• Gene id: 4089

Gene Summary

• Gene Symbol: SMAD4   Gene   UCSC   Ensembl
• Aliases: DPC4, JIP, MADH4, MYHRS
• Gene name: SMAD family member 4
• Alternate names: mothers against decapentaplegic homolog 4, MAD homolog 4, SMAD, mothers against DPP homolog 4, deleted in pancreatic carcinoma locus 4, deletion target in pancreatic carcinoma 4, mothers against decapentaplegic, Drosophila, homolog of, 4,
• Gene location: 18q21.2 (51030212: 51085041)     Exons: 12     NC_000018.10
• Gene summary(Entrez): This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of
• OMIM: 600993

Protein Summary

• Protein general information: Q13485  
  • Name: Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4)
  • Length: 552  
  • Mass: 60439
• Sequence:

  MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSKCVTIQ
  RTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPGIDLSGLTLQS
  NAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQP
  ASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH
  YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGDRFCLGQLSNVHRTEA
  IERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGRAPGDAVHKIYPSAYIKVFDLRQCHRQMQQQ
  AATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWI
  EIHLHRALQLLDEVLHTMPIADPQPLD

• Structural information:
  • Protein Domains: (18..14-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (323..55-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • PDB: 1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
  • PDBsum: 1DD1 1G88 1MR1 1U7F 1U7V 1YGS 5C4V 5MEY 5MEZ 5MF0 5UWU
  • DIP: 31512
  • STRING: ENSP00000341551
• Other Databases: GeneCards:  SMAD4  Malacards:  SMAD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0071559	response to transforming growth factor beta	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	TAS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0016579	protein deubiquitination	TAS	biological process
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0035019	somatic stem cell population maintenance	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0014033	neural crest cell differentiation	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0009653	anatomical structure morphogenesis	IEA	biological process
GO:0008585	female gonad development	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0007492	endoderm development	IEA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003251	positive regulation of cell proliferation involved in heart valve morphogenesis	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0001822	kidney development	IEA	biological process
GO:0001702	gastrulation with mouth forming second	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001085	RNA polymerase II transcription factor binding	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0098772	molecular function regulator	IEA	molecular function
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0072520	seminiferous tubule development	IEA	biological process
GO:0072134	nephrogenic mesenchyme morphogenesis	IEA	biological process
GO:0072133	metanephric mesenchyme morphogenesis	IEA	biological process
GO:0070102	interleukin-6-mediated signaling pathway	IEA	biological process
GO:0061040	female gonad morphogenesis	IEA	biological process
GO:0060548	negative regulation of cell death	IEA	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	IEA	biological process
GO:0048859	formation of anatomical boundary	IEA	biological process
GO:0048729	tissue morphogenesis	IEA	biological process
GO:0048382	mesendoderm development	IEA	biological process
GO:0046881	positive regulation of follicle-stimulating hormone secretion	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0036302	atrioventricular canal development	IEA	biological process
GO:0033686	positive regulation of luteinizing hormone secretion	IEA	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IEA	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005518	collagen binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003360	brainstem development	IEA	biological process
GO:0003279	cardiac septum development	IEA	biological process
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	IEA	biological process
GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:0003190	atrioventricular valve formation	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001658	branching involved in ureteric bud morphogenesis	IEA	biological process
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:2000617	positive regulation of histone H3-K9 acetylation	IEA	biological process
GO:1905305	negative regulation of cardiac myofibril assembly	IEA	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0062009	secondary palate development	IEA	biological process
GO:0061614	pri-miRNA transcription by RNA polymerase II	IEA	biological process
GO:0060956	endocardial cell differentiation	IEA	biological process
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	IEA	biological process
GO:0060065	uterus development	IEA	biological process
GO:0051797	regulation of hair follicle development	IEA	biological process
GO:0051098	regulation of binding	IEA	biological process
GO:0048733	sebaceous gland development	IEA	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048589	developmental growth	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042733	embryonic digit morphogenesis	IEA	biological process
GO:0042118	endothelial cell activation	IEA	biological process
GO:0032525	somite rostral/caudal axis specification	IEA	biological process
GO:0030509	BMP signaling pathway	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	ISS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:2000617	positive regulation of histone H3-K9 acetylation	ISS	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	ISS	biological process
GO:0070102	interleukin-6-mediated signaling pathway	ISS	biological process
GO:0071773	cellular response to BMP stimulus	NAS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	TAS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0003700	DNA-binding transcription factor activity	IDA	contributes to
GO:0043565	sequence-specific DNA binding	IDA	contributes to
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003251	positive regulation of cell proliferation involved in heart valve morphogenesis	ISS	biological process
GO:0036302	atrioventricular canal development	ISS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0003677	DNA binding	IDA	contributes to
GO:0003190	atrioventricular valve formation	ISS	biological process
GO:0060956	endocardial cell differentiation	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0070411	I-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0070412	R-SMAD binding	IPI	molecular function
GO:0006879	cellular iron ion homeostasis	ISS	biological process
GO:0007183	SMAD protein complex assembly	IDA	biological process
GO:0030308	negative regulation of cell growth	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0060395	SMAD protein signal transduction	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0001666	response to hypoxia	IMP	biological process
GO:0017015	regulation of transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0030513	positive regulation of BMP signaling pathway	IMP	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005667	transcription regulator complex	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0030509	BMP signaling pathway	IDA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0032444	activin responsive factor complex	IDA	cellular component
GO:0010718	positive regulation of epithelial to mesenchymal transition	ISS	biological process
GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation	ISS	biological process
GO:0032909	regulation of transforming growth factor beta2 production	IMP	biological process
GO:0062009	secondary palate development	ISS	biological process
GO:0060391	positive regulation of SMAD protein signal transduction	ISS	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0003220	left ventricular cardiac muscle tissue morphogenesis	ISS	biological process
GO:0070373	negative regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0010614	negative regulation of cardiac muscle hypertrophy	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:1905305	negative regulation of cardiac myofibril assembly	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0071141	SMAD protein complex	IMP	cellular component
GO:0043199	sulfate binding	IMP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0071141	SMAD protein complex	IDA	cellular component
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0005667	transcription regulator complex	IPI	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa04310	Wnt signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04371	Apelin signaling pathway
hsa05226	Gastric cancer
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04110	Cell cycle
hsa04068	FoxO signaling pathway
hsa04659	Th17 cell differentiation
hsa04350	TGF-beta signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa04520	Adherens junction

Diseases

Associated diseases	References
Colorectal cancer	KEGG:H00020
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Pancreatic cancer	KEGG:H00019
Juvenile polyposis syndrome	KEGG:H01023
Myhre syndrome	KEGG:H02102
Colorectal cancer	KEGG:H00020
Hereditary hemorrhagic telangiectasia	KEGG:H00533
Pancreatic cancer	KEGG:H00019
Juvenile polyposis syndrome	KEGG:H01023
Myhre syndrome	KEGG:H02102
juvenile polyposis syndrome	PMID:11583957
juvenile polyposis syndrome	PMID:21465659
juvenile polyposis syndrome	PMID:9582123
Colorectal adenoma	PMID:11480790
colorectal carcinoma	PMID:26861460
Non-alcoholic steatohepatitis	PMID:29696816
Juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome	PMID:20101697
urinary bladder cancer	PMID:11783019
hereditary hemorrhagic telangiectasia	PMID:16613914
pancreatic cancer	PMID:18772397
Ovarian cancer	PMID:16951150
Ovarian cancer	PMID:10451707
Transitional cell carcinoma	PMID:16859125
Endometrial carcinoma	PMID:15385128
Endometrial carcinoma	PMID:10331746
gastrointestinal system cancer	PMID:25389115
pancreatic ductal carcinoma	PMID:15173084
Lynch syndrome	PMID:10819637
cervical cancer	PMID:12894231
seminoma	PMID:10706106
renal cell carcinoma	PMID:11332076
intrahepatic cholangiocarcinoma	PMID:23981608
intrahepatic cholangiocarcinoma	PMID:16917866
Aortic disease	PMID:25931195
hepatocellular carcinoma	PMID:22799322
chronic myeloid leukemia	PMID:29951173
prostate carcinoma in situ	PMID:15017584
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)