Male Infertility Database

Search Result

Gene id

6662

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

SOX9 Gene UCSC Ensembl

Aliases

CMD1, CMPD1, SRA1, SRXX2, SRXY10

Gene name

SRY-box 9

Alternate names

transcription factor SOX-9, SRY (sex determining region Y)-box9, SRY (sex-determining region Y)-box 9 protein, SRY-related HMG-box, gene 9,

Gene location

17q24.3 (72121019: 72126419) Exons: 3 NC_000017.11

Gene summary(Entrez)

The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muelleria

OMIM

608160

Protein Summary

Protein general information

P48436

Name: Transcription factor SOX 9

Length: 509 Mass: 56,137

Sequence

MNLLDPFMKMTDEQEKGLSGAPSPTMSEDSAGSPCPSGSGSDTENTRPQENTFPKGEPDLKKESEEDKFPVCIRE
AVSQVLKGYDWTLVPMPVRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNAELSKTLGKLWRLLNESE
KRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEAEEATEQTHISPNAIFKALQADSPHSSSGMSEVHSPG
EHSGQSQGPPTPPTTPKTDVQPGKADLKREGRPLPEGGRQPPIDFRDVDIGELSSDVISNIETFDVNEFDQYLPP
NGHPGVPATHGQVTYTGSYGISSTAATPASAGHVWMSKQQAPPPPPQQPPQAPPAPQAPPQPQAAPPQQPAAPPQ
QPQAHTLTTLSSEPGQSQRTHIKTEQLSPSHYSEQQQHSPQQIAYSPFNLPHYSPSYPPITRSQYDYTDHQNSSS
YYSHAAGQGTGLYSTFTYMNPAQRPMYTPIADTSGVPSIPQTHSPQHWEQPVYTQLTRP

Structural information

Interpro:	IPR009071 IPR036910 IPR029548 IPR022151
Prosite:	PS50118
PDB:	1S9M 1SX9 4EUW
PDBsum:	1S9M 1SX9 4EUW
DIP:	61319
STRING:	ENSP00000245479

Other Databases

GeneCards: SOX9 Malacards: SOX9

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological process
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001158	enhancer sequence-specifi c DNA binding	ISS	molecular function
GO:0001501	skeletal system developme nt	IMP	biological process
GO:0001502	cartilage condensation	ISS	biological process
GO:0001503	ossification	IEA	biological process
GO:0001658	branching involved in ure teric bud morphogenesis	IEA	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001894	tissue homeostasis	ISS	biological process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological process
GO:0001942	hair follicle development	ISS	biological process
GO:0002053	positive regulation of me senchymal cell proliferat ion	ISS	biological process
GO:0002683	negative regulation of im mune system process	ISS	biological process
GO:0003170	heart valve development	ISS	biological process
GO:0003179	heart valve morphogenesis	ISS	biological process
GO:0003188	heart valve formation	IEA	biological process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological process
GO:0003413	chondrocyte differentiati on involved in endochondr al bone morphogenesis	IMP	biological process
GO:0003415	chondrocyte hypertrophy	ISS	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IMP	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0004672	protein kinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006334	nucleosome assembly	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological process
GO:0006461	protein complex assembly	IDA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007165	signal transduction	ISS	biological process
GO:0007173	epidermal growth factor r eceptor signaling pathway	ISS	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008284	positive regulation of ce ll proliferation	IMP	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0010564	regulation of cell cycle process	IMP	biological process
GO:0010634	positive regulation of ep ithelial cell migration	IMP	biological process
GO:0014032	neural crest cell develop ment	IEA	biological process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	ISS	biological process
GO:0016337	single organismal cell-ce ll adhesion	IEA	biological process
GO:0019100	male germ-line sex determ ination	ISS	biological process
GO:0019933	cAMP-mediated signaling	IDA	biological process
GO:0030155	regulation of cell adhesi on	IEA	biological process
GO:0030198	extracellular matrix orga nization	IEA	biological process
GO:0030279	negative regulation of os sification	ISS	biological process
GO:0030502	negative regulation of bo ne mineralization	IEA	biological process
GO:0030850	prostate gland developmen t	IEP	biological process
GO:0030857	negative regulation of ep ithelial cell differentia tion	IEA	biological process
GO:0030858	positive regulation of ep ithelial cell differentia tion	ISS	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030903	notochord development	IEA	biological process
GO:0030916	otic vesicle formation	ISS	biological process
GO:0031018	endocrine pancreas develo pment	IEA	biological process
GO:0032331	negative regulation of ch ondrocyte differentiation	ISS	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IMP	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IDA	biological process
GO:0034236	protein kinase A catalyti c subunit binding	IPI	molecular function
GO:0034504	protein localization to n ucleus	IEA	biological process
GO:0035019	somatic stem cell populat ion maintenance	ISS	biological process
GO:0035326	enhancer binding	IDA	molecular function
GO:0035622	intrahepatic bile duct de velopment	IEA	biological process
GO:0042127	regulation of cell prolif eration	ISS	biological process
GO:0042981	regulation of apoptotic p rocess	ISS	biological process
GO:0043066	negative regulation of ap optotic process	ISS	biological process
GO:0043066	negative regulation of ap optotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043425	bHLH transcription factor binding	IEA	molecular function
GO:0043491	protein kinase B signalin g	IEA	biological process
GO:0044798	nuclear transcription fac tor complex	IEA	cellular component
GO:0045662	negative regulation of my oblast differentiation	ISS	biological process
GO:0045732	positive regulation of pr otein catabolic process	IEA	biological process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0046533	negative regulation of ph otoreceptor cell differen tiation	ISS	biological process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular function
GO:0048709	oligodendrocyte different iation	IEA	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEP	biological process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0051216	cartilage development	ISS	biological process
GO:0060008	Sertoli cell differentiat ion	ISS	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060018	astrocyte fate commitment	IEA	biological process
GO:0060041	retina development in cam era-type eye	ISS	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0060221	retinal rod cell differen tiation	ISS	biological process
GO:0060441	epithelial tube branching involved in lung morphog enesis	IEA	biological process
GO:0060487	lung epithelial cell diff erentiation	IEA	biological process
GO:0060517	epithelial cell prolifera tion involved in prostati c bud elongation	ISS	biological process
GO:0060532	bronchus cartilage develo pment	IEA	biological process
GO:0060534	trachea cartilage develop ment	IEA	biological process
GO:0060729	intestinal epithelial str ucture maintenance	ISS	biological process
GO:0060784	regulation of cell prolif eration involved in tissu e homeostasis	ISS	biological process
GO:0061036	positive regulation of ca rtilage development	IDA	biological process
GO:0061046	regulation of branching i nvolved in lung morphogen esis	IEA	biological process
GO:0061138	morphogenesis of a branch ing epithelium	ISS	biological process
GO:0061145	lung smooth muscle develo pment	IEA	biological process
GO:0070168	negative regulation of bi omineral tissue developme nt	ISS	biological process
GO:0070371	ERK1 and ERK2 cascade	ISS	biological process
GO:0070384	Harderian gland developme nt	IEA	biological process
GO:0071260	cellular response to mech anical stimulus	ISS	biological process
GO:0071300	cellular response to reti noic acid	IEP	biological process
GO:0071347	cellular response to inte rleukin-1	IEP	biological process
GO:0071364	cellular response to epid ermal growth factor stimu lus	ISS	biological process
GO:0071504	cellular response to hepa rin	ISS	biological process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IDA	biological process
GO:0072034	renal vesicle induction	ISS	biological process
GO:0072190	ureter urothelium develop ment	IEA	biological process
GO:0072193	ureter smooth muscle cell differentiation	IEA	biological process
GO:0072197	ureter morphogenesis	IEA	biological process
GO:0072289	metanephric nephron tubul e formation	ISS	biological process
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	ISS	biological process
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:0090184	positive regulation of ki dney development	ISS	biological process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological process
GO:0097157	pre-mRNA intronic binding	IEA	molecular function
GO:1901203	positive regulation of ex tracellular matrix assemb ly	IEA	biological process
GO:2000020	positive regulation of ma le gonad development	IDA	biological process
GO:2000138	positive regulation of ce ll proliferation involved in heart morphogenesis	IEA	biological process
GO:2000741	positive regulation of me senchymal stem cell diffe rentiation	IDA	biological process
GO:2000794	regulation of epithelial cell proliferation involv ed in lung morphogenesis	IEA	biological process
GO:2001054	negative regulation of me senchymal cell apoptotic process	IEA	biological process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IEA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IEA	molecular function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IEA	molecular function
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001158	enhancer sequence-specifi c DNA binding	IEA	molecular function
GO:0001158	enhancer sequence-specifi c DNA binding	ISS	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IEA	molecular function
GO:0001501	skeletal system developme nt	IMP	biological process
GO:0001502	cartilage condensation	IEA	biological process
GO:0001502	cartilage condensation	ISS	biological process
GO:0001503	ossification	IEA	biological process
GO:0001658	branching involved in ure teric bud morphogenesis	IEA	biological process
GO:0001708	cell fate specification	IEA	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001837	epithelial to mesenchymal transition	IEA	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001894	tissue homeostasis	IEA	biological process
GO:0001894	tissue homeostasis	ISS	biological process
GO:0001934	positive regulation of pr otein phosphorylation	IEA	biological process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological process
GO:0001942	hair follicle development	IEA	biological process
GO:0001942	hair follicle development	ISS	biological process
GO:0002053	positive regulation of me senchymal cell proliferat ion	IEA	biological process
GO:0002053	positive regulation of me senchymal cell proliferat ion	ISS	biological process
GO:0002062	chondrocyte differentiati on	IEA	biological process
GO:0002063	chondrocyte development	IEA	biological process
GO:0002683	negative regulation of im mune system process	IEA	biological process
GO:0002683	negative regulation of im mune system process	ISS	biological process
GO:0003170	heart valve development	IEA	biological process
GO:0003170	heart valve development	ISS	biological process
GO:0003179	heart valve morphogenesis	IEA	biological process
GO:0003179	heart valve morphogenesis	ISS	biological process
GO:0003188	heart valve formation	IEA	biological process
GO:0003203	endocardial cushion morph ogenesis	IEA	biological process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological process
GO:0003413	chondrocyte differentiati on involved in endochondr al bone morphogenesis	IMP	biological process
GO:0003415	chondrocyte hypertrophy	IEA	biological process
GO:0003415	chondrocyte hypertrophy	ISS	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IMP	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IEA	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005667	transcription factor comp lex	IEA	cellular component
GO:0006334	nucleosome assembly	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006351	transcription, DNA-templa ted	IEA	biological process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IEA	biological process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological process
GO:0006461	protein complex assembly	IDA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	ISS	biological process
GO:0007173	epidermal growth factor r eceptor signaling pathway	IEA	biological process
GO:0007173	epidermal growth factor r eceptor signaling pathway	ISS	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007417	central nervous system de velopment	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0008013	beta-catenin binding	IEA	molecular function
GO:0008284	positive regulation of ce ll proliferation	IEA	biological process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0010564	regulation of cell cycle process	IMP	biological process
GO:0010628	positive regulation of ge ne expression	IEA	biological process
GO:0010629	negative regulation of ge ne expression	IEA	biological process
GO:0010634	positive regulation of ep ithelial cell migration	IEA	biological process
GO:0010634	positive regulation of ep ithelial cell migration	IMP	biological process
GO:0014032	neural crest cell develop ment	IEA	biological process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	IEA	biological process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	ISS	biological process
GO:0016337	single organismal cell-ce ll adhesion	IEA	biological process
GO:0019100	male germ-line sex determ ination	IEA	biological process
GO:0019100	male germ-line sex determ ination	ISS	biological process
GO:0019933	cAMP-mediated signaling	IEA	biological process
GO:0019933	cAMP-mediated signaling	IDA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030155	regulation of cell adhesi on	IEA	biological process
GO:0030198	extracellular matrix orga nization	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030279	negative regulation of os sification	IEA	biological process
GO:0030279	negative regulation of os sification	ISS	biological process
GO:0030502	negative regulation of bo ne mineralization	IEA	biological process
GO:0030850	prostate gland developmen t	IEA	biological process
GO:0030850	prostate gland developmen t	IEP	biological process
GO:0030857	negative regulation of ep ithelial cell differentia tion	IEA	biological process
GO:0030858	positive regulation of ep ithelial cell differentia tion	IEA	biological process
GO:0030858	positive regulation of ep ithelial cell differentia tion	ISS	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030903	notochord development	IEA	biological process
GO:0030916	otic vesicle formation	IEA	biological process
GO:0030916	otic vesicle formation	ISS	biological process
GO:0031018	endocrine pancreas develo pment	IEA	biological process
GO:0032331	negative regulation of ch ondrocyte differentiation	IEA	biological process
GO:0032331	negative regulation of ch ondrocyte differentiation	ISS	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IEA	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IMP	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IDA	biological process
GO:0032808	lacrimal gland developmen t	IEA	biological process
GO:0034236	protein kinase A catalyti c subunit binding	IPI	molecular function
GO:0034504	protein localization to n ucleus	IEA	biological process
GO:0035019	somatic stem cell populat ion maintenance	IEA	biological process
GO:0035019	somatic stem cell populat ion maintenance	ISS	biological process
GO:0035326	enhancer binding	IEA	molecular function
GO:0035326	enhancer binding	IDA	molecular function
GO:0035622	intrahepatic bile duct de velopment	IEA	biological process
GO:0042127	regulation of cell prolif eration	IEA	biological process
GO:0042127	regulation of cell prolif eration	ISS	biological process
GO:0042981	regulation of apoptotic p rocess	ISS	biological process
GO:0043066	negative regulation of ap optotic process	IEA	biological process
GO:0043066	negative regulation of ap optotic process	ISS	biological process
GO:0043066	negative regulation of ap optotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0043425	bHLH transcription factor binding	IEA	molecular function
GO:0043491	protein kinase B signalin g	IEA	biological process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IEA	molecular function
GO:0044798	nuclear transcription fac tor complex	IEA	cellular component
GO:0045165	cell fate commitment	IEA	biological process
GO:0045595	regulation of cell differ entiation	IEA	biological process
GO:0045662	negative regulation of my oblast differentiation	IEA	biological process
GO:0045662	negative regulation of my oblast differentiation	ISS	biological process
GO:0045732	positive regulation of pr otein catabolic process	IEA	biological process
GO:0045892	negative regulation of tr anscription, DNA-template d	IEA	biological process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IEA	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IEA	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0046533	negative regulation of ph otoreceptor cell differen tiation	IEA	biological process
GO:0046533	negative regulation of ph otoreceptor cell differen tiation	ISS	biological process
GO:0046982	protein heterodimerizatio n activity	IEA	molecular function
GO:0048709	oligodendrocyte different iation	IEA	biological process
GO:0048873	homeostasis of number of cells within a tissue	IEA	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEA	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEP	biological process
GO:0050680	negative regulation of ep ithelial cell proliferati on	IEA	biological process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051216	cartilage development	ISS	biological process
GO:0060008	Sertoli cell differentiat ion	IEA	biological process
GO:0060008	Sertoli cell differentiat ion	ISS	biological process
GO:0060009	Sertoli cell development	IEA	biological process
GO:0060018	astrocyte fate commitment	IEA	biological process
GO:0060041	retina development in cam era-type eye	IEA	biological process
GO:0060041	retina development in cam era-type eye	ISS	biological process
GO:0060174	limb bud formation	IEA	biological process
GO:0060221	retinal rod cell differen tiation	IEA	biological process
GO:0060221	retinal rod cell differen tiation	ISS	biological process
GO:0060350	endochondral bone morphog enesis	IEA	biological process
GO:0060441	epithelial tube branching involved in lung morphog enesis	IEA	biological process
GO:0060487	lung epithelial cell diff erentiation	IEA	biological process
GO:0060512	prostate gland morphogene sis	IEA	biological process
GO:0060517	epithelial cell prolifera tion involved in prostati c bud elongation	IEA	biological process
GO:0060517	epithelial cell prolifera tion involved in prostati c bud elongation	ISS	biological process
GO:0060532	bronchus cartilage develo pment	IEA	biological process
GO:0060534	trachea cartilage develop ment	IEA	biological process
GO:0060729	intestinal epithelial str ucture maintenance	IEA	biological process
GO:0060729	intestinal epithelial str ucture maintenance	ISS	biological process
GO:0060784	regulation of cell prolif eration involved in tissu e homeostasis	IEA	biological process
GO:0060784	regulation of cell prolif eration involved in tissu e homeostasis	ISS	biological process
GO:0061036	positive regulation of ca rtilage development	IEA	biological process
GO:0061036	positive regulation of ca rtilage development	IDA	biological process
GO:0061046	regulation of branching i nvolved in lung morphogen esis	IEA	biological process
GO:0061138	morphogenesis of a branch ing epithelium	IEA	biological process
GO:0061138	morphogenesis of a branch ing epithelium	ISS	biological process
GO:0061145	lung smooth muscle develo pment	IEA	biological process
GO:0070168	negative regulation of bi omineral tissue developme nt	IEA	biological process
GO:0070168	negative regulation of bi omineral tissue developme nt	ISS	biological process
GO:0070371	ERK1 and ERK2 cascade	IEA	biological process
GO:0070371	ERK1 and ERK2 cascade	ISS	biological process
GO:0070384	Harderian gland developme nt	IEA	biological process
GO:0071260	cellular response to mech anical stimulus	IEA	biological process
GO:0071260	cellular response to mech anical stimulus	ISS	biological process
GO:0071300	cellular response to reti noic acid	IEA	biological process
GO:0071300	cellular response to reti noic acid	IEP	biological process
GO:0071347	cellular response to inte rleukin-1	IEP	biological process
GO:0071364	cellular response to epid ermal growth factor stimu lus	IEA	biological process
GO:0071364	cellular response to epid ermal growth factor stimu lus	ISS	biological process
GO:0071504	cellular response to hepa rin	IEA	biological process
GO:0071504	cellular response to hepa rin	ISS	biological process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IDA	biological process
GO:0071599	otic vesicle development	IEA	biological process
GO:0072034	renal vesicle induction	IEA	biological process
GO:0072034	renal vesicle induction	ISS	biological process
GO:0072170	metanephric tubule develo pment	IEA	biological process
GO:0072189	ureter development	IEA	biological process
GO:0072190	ureter urothelium develop ment	IEA	biological process
GO:0072193	ureter smooth muscle cell differentiation	IEA	biological process
GO:0072197	ureter morphogenesis	IEA	biological process
GO:0072289	metanephric nephron tubul e formation	IEA	biological process
GO:0072289	metanephric nephron tubul e formation	ISS	biological process
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	IEA	biological process
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	ISS	biological process
GO:0090103	cochlea morphogenesis	IEA	biological process
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:0090184	positive regulation of ki dney development	IEA	biological process
GO:0090184	positive regulation of ki dney development	ISS	biological process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	IEA	biological process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological process
GO:0097157	pre-mRNA intronic binding	IEA	molecular function
GO:1901203	positive regulation of ex tracellular matrix assemb ly	IEA	biological process
GO:2000020	positive regulation of ma le gonad development	IDA	biological process
GO:2000138	positive regulation of ce ll proliferation involved in heart morphogenesis	IEA	biological process
GO:2000741	positive regulation of me senchymal stem cell diffe rentiation	IDA	biological process
GO:2000794	regulation of epithelial cell proliferation involv ed in lung morphogenesis	IEA	biological process
GO:2001054	negative regulation of me senchymal cell apoptotic process	IEA	biological process
GO:0001046	core promoter sequence-sp ecific DNA binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular function
GO:0001158	enhancer sequence-specifi c DNA binding	ISS	molecular function
GO:0001501	skeletal system developme nt	IMP	biological process
GO:0001502	cartilage condensation	ISS	biological process
GO:0001708	cell fate specification	ISS	biological process
GO:0001837	epithelial to mesenchymal transition	ISS	biological process
GO:0001894	tissue homeostasis	ISS	biological process
GO:0001934	positive regulation of pr otein phosphorylation	ISS	biological process
GO:0001942	hair follicle development	ISS	biological process
GO:0002053	positive regulation of me senchymal cell proliferat ion	ISS	biological process
GO:0002683	negative regulation of im mune system process	ISS	biological process
GO:0003170	heart valve development	ISS	biological process
GO:0003179	heart valve morphogenesis	ISS	biological process
GO:0003203	endocardial cushion morph ogenesis	ISS	biological process
GO:0003413	chondrocyte differentiati on involved in endochondr al bone morphogenesis	IMP	biological process
GO:0003415	chondrocyte hypertrophy	ISS	biological process
GO:0003682	chromatin binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IMP	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0003705	transcription factor acti vity, RNA polymerase II d istal enhancer sequence-s pecific binding	IDA	molecular function
GO:0004672	protein kinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006334	nucleosome assembly	IDA	biological process
GO:0006338	chromatin remodeling	IDA	biological process
GO:0006461	protein complex assembly	IDA	biological process
GO:0007165	signal transduction	ISS	biological process
GO:0007173	epidermal growth factor r eceptor signaling pathway	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0008284	positive regulation of ce ll proliferation	IMP	biological process
GO:0008584	male gonad development	IEP	biological process
GO:0008584	male gonad development	IMP	biological process
GO:0010564	regulation of cell cycle process	IMP	biological process
GO:0010634	positive regulation of ep ithelial cell migration	IMP	biological process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	ISS	biological process
GO:0019100	male germ-line sex determ ination	ISS	biological process
GO:0019933	cAMP-mediated signaling	IDA	biological process
GO:0030279	negative regulation of os sification	ISS	biological process
GO:0030850	prostate gland developmen t	IEP	biological process
GO:0030858	positive regulation of ep ithelial cell differentia tion	ISS	biological process
GO:0030916	otic vesicle formation	ISS	biological process
GO:0032331	negative regulation of ch ondrocyte differentiation	ISS	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IMP	biological process
GO:0032332	positive regulation of ch ondrocyte differentiation	IDA	biological process
GO:0034236	protein kinase A catalyti c subunit binding	IPI	molecular function
GO:0035019	somatic stem cell populat ion maintenance	ISS	biological process
GO:0035326	enhancer binding	IDA	molecular function
GO:0042127	regulation of cell prolif eration	ISS	biological process
GO:0042981	regulation of apoptotic p rocess	ISS	biological process
GO:0043066	negative regulation of ap optotic process	ISS	biological process
GO:0043066	negative regulation of ap optotic process	IMP	biological process
GO:0043234	protein complex	IDA	cellular component
GO:0045662	negative regulation of my oblast differentiation	ISS	biological process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological process
GO:0046533	negative regulation of ph otoreceptor cell differen tiation	ISS	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0050679	positive regulation of ep ithelial cell proliferati on	IEP	biological process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological process
GO:0051216	cartilage development	ISS	biological process
GO:0060008	Sertoli cell differentiat ion	ISS	biological process
GO:0060041	retina development in cam era-type eye	ISS	biological process
GO:0060221	retinal rod cell differen tiation	ISS	biological process
GO:0060517	epithelial cell prolifera tion involved in prostati c bud elongation	ISS	biological process
GO:0060729	intestinal epithelial str ucture maintenance	ISS	biological process
GO:0060784	regulation of cell prolif eration involved in tissu e homeostasis	ISS	biological process
GO:0061036	positive regulation of ca rtilage development	IDA	biological process
GO:0061138	morphogenesis of a branch ing epithelium	ISS	biological process
GO:0070168	negative regulation of bi omineral tissue developme nt	ISS	biological process
GO:0070371	ERK1 and ERK2 cascade	ISS	biological process
GO:0071260	cellular response to mech anical stimulus	ISS	biological process
GO:0071300	cellular response to reti noic acid	IEP	biological process
GO:0071347	cellular response to inte rleukin-1	IEP	biological process
GO:0071364	cellular response to epid ermal growth factor stimu lus	ISS	biological process
GO:0071504	cellular response to hepa rin	ISS	biological process
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IDA	biological process
GO:0072034	renal vesicle induction	ISS	biological process
GO:0072289	metanephric nephron tubul e formation	ISS	biological process
GO:0090090	negative regulation of ca nonical Wnt signaling pat hway	ISS	biological process
GO:0090103	cochlea morphogenesis	ISS	biological process
GO:0090184	positive regulation of ki dney development	ISS	biological process
GO:0090190	positive regulation of br anching involved in urete ric bud morphogenesis	ISS	biological process
GO:2000020	positive regulation of ma le gonad development	IDA	biological process
GO:2000741	positive regulation of me senchymal stem cell diffe rentiation	IDA	biological process

KEGG pathways

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Pathway id	Pathway name
hsa04024	cAMP signaling pathway

Diseases

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Associated diseases	References
Cancer (ovarian)	GAD: 20628624
Campomelic dysplasia	KEGG: H00442
Cleft defects	GAD: 20634891
Asthma	GAD: 22424883
Bone diseases	GAD: 19453261
Hypospadias	GAD: 15266301
Complete androgen insensitivity syndrome (CAIS)	INFBASE: 19539906
Gonad development	INFBASE: 15120973
Congenital adrenal hyperplasia	KEGG: H00216
Testicular developmental defects	MIK: 26405262
Sertoli cell only syndrome (SCOS)	MIK: 24098470
Androgen insensitivity syndrome (AIS)	MIK: 24098470
Klinefelter syndrome	INFBASE: 26405262
Hypogonadotropic hypogonadism	MIK: 27086651
Idiopathic hypogonadotropic�hypogonadism�(IHH)	MIK: 27086651
Male infertility	MIK: 27498191
May regulate steroidogenesis and spermatogenesis	MIK: 26045173
Role in coordinating epididymal function	MIK: 24006278
Sertoli-cells-onlysyndrome�(SCOS)	MIK: 24098470
Androgen�insensitivity�syndrome�(AIS)	MIK: 24098470
Teratozoospermia	MIK: 17327269
Testicular abnormalities	MIK: 26536904
Male infertility	MIK: 26536904

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
24098470	Sertoli-ce lls-onlysy ndrome�(SC OS) and�an drogen�ins ensitivity �syndrome� (AIS)	77 (23 men with obstructive az oospermia, 33 m en with SCOS az oospermia and 2 1 volunteers wi th normal semin ograms)	Male infertility		Show abstract
27086651	Idiopathic hypogonad otropic�hy pogonadism �(IHH)		Male infertility		Show abstract
27498191	Male infer tility		Male infertility		Show abstract
26536904	Testicular abnormali ties, Male infertili ty		Male infertility		Show abstract
26045173	May regula te steroid ogenesis a nd spermat ogenesis		Male infertility		Show abstract
24006278	Role in co ordinating epididyma l function		Male infertility		Show abstract
17327269	Teratozoos permia	13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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