• Gene id: 2778

Gene Summary

• Gene Symbol: GNAS   Gene   UCSC   Ensembl
• Aliases: AHO, C20orf45, GNAS1, GPSA, GSA, GSP, NESP, PITA3, POH, SCG6, SgVI
• Gene name: GNAS complex locus
• Alternate names: protein ALEX, protein GNAS, protein SCG6 (secretogranin VI), G protein subunit alpha S, adenylate cyclase-stimulating G alpha protein, alternative gene product encoded by XL-exon, extra large alphas protein, guanine nucleotide binding protein (G protein),,
• Gene location: 20q13.32 (58839680: 58911195)     Exons: 23     NC_000020.11
• Gene summary(Entrez): This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' exons. Some transcripts contain a differentially methyla
• OMIM: 139320

Protein Summary

• Protein general information: O95467  
  • Name: Neuroendocrine secretory protein 55 (NESP55) [Cleaved into: LHAL tetrapeptide; GPIPIRRH peptide]
  • Length: 245  
  • Mass: 28,029
  • Tissue specificity: Brain, heart, placenta, pancreas and skeletal muscle. Expressed to a lesser extent in lung, liver and kidney.
• Sequence:

  MDRRSRAQQWRRARHNYNDLCPPIGRRAATALLWLSCSIALLRALATSNARAQQRAAAQQRRSFLNAHHRSGAQV
  FPESPESESDHEHEEADLELSLPECLEYEEEFDYETESETESEIESETDFETEPETAPTTEPETEPEDDRGPVVP
  KHSTFGQSLTQRLHALKLRSPDASPSRAPPSTQEPQSPREGEELKPEDKDPRDPEESKEPKEEKQRRRCKPKKPT
  RRDASPESPSKKGPIPIRRH

• Structural information:
  • Interpro: IPR009434  
• Other Databases: GeneCards:  GNAS  Malacards:  GNAS
• Protein general information: P63092  
  
  Name: Guanine nucleotide binding protein G(s) subunit alpha isoforms short (Adenylate cyclase stimulating G alpha protein)
  
  Length: 394  Mass: 45,665
• Sequence: MGCLGNSKTEDQRNEEKAQREANKKIEKQLQKDKQVYRATHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEE
  DPQAARSNSDGEKATKVQDIKNNLKEAIETIVAAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHA
  KALWEDEGVRACYERSNEYQLIDCAQYFLDKIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVG
  GQRDERRKWIQCFNDVTAIIFVVASSSYNMVIREDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEK
  VLAGKSKIEDYFPEFARYTTPEDATPEPGEDPRVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRV
  FNDCRDIIQRMHLRQYELL
• Structural information:

  Interpro:	IPR000367  IPR001019  IPR011025  IPR027417
  CDD:	cd00066
  PDB:	5G53 5UZ7 5VAI
  PDBsum:	5G53 5UZ7 5VAI
  MINT:

• Other Databases: GeneCards:  GNAS  Malacards:  GNAS
• Protein general information: P84996  
  
  Name: Protein ALEX (Alternative gene product encoded by XL exon)
  
  Length: 626  Mass: 67,948
• Sequence: MMARPVDPQRSPDPTFRSSTRHSGKLEPMEATAHLLRKQCPSRLNSPAWEASGLHWSSLDSPVGSMQALRPSAQH
  SWSPEPSVVPDQAWEDTALHQKKLCPLSLTSLPREAAVNFSYRSQTLLQEAQVLQGSPELLPRSPKPSGLQRLAP
  EEATALPLRRLCHLSLMEKDLGTTAHPRGFPELSHKSTAAASSRQSRPRVRSASLPPRTRLPSGSQAPSAAHPKR
  LSDLLLTSRAAAPGWRSPDPRSRLAAPPLGSTTLPSTWTAPQSRLTARPSRSPEPQIRESEQRDPQLRRKQQRWK
  EPLMPRREEKYPLRGTDPLPPGQPQRIPLPGQPLQPQPILTPGQPQKIPTPGQHQPILTPGHSQPIPTPGQPLPP
  QPIPTPGRPLTPQPIPTPGRPLTPQPIQMPGRPLRLPPPLRLLRPGQPMSPQLRQTQGLPLPQPLLPPGQPKSAG
  RPLQPLPPGPDARSISDPPAPRSRLPIRLLRGLLARLPGGASPRAAAAAACTTMKGWPAATMTPAETSPTMGPPD
  ASAGFSIGEIAAAESPSATYSATFSCKPSGAASVDLRVPSPKPRALSRSRRYPWRRSADRCAKKPWRSGPRSAQR
  RNAVSSSTNNSRTKRWATCVRTACCF
• Other Databases: GeneCards:  GNAS  Malacards:  GNAS
• Protein general information: Q5JWF2  
  
  Name: Guanine nucleotide binding protein G(s) subunit alpha isoforms XLas (Adenylate cyclase stimulating G alpha protein) (Extra large alphas protein) (XLalphas)
  
  Length: 1037  Mass: 111,025
• Sequence: MGVRNCLYGNNMSGQRDIPPEIGEQPEQPPLEAPGAAAPGAGPSPAEEMETEPPHNEPIPVENDGEACGPPEVSR
  PNFQVLNPAFREAGAHGSYSPPPEEAMPFEAEQPSLGGFWPTLEQPGFPSGVHAGLEAFGPALMEPGAFSGARPG
  LGGYSPPPEEAMPFEFDQPAQRGCSQLLLQVPDLAPGGPGAAGVPGAPPEEPQALRPAKAGSRGGYSPPPEETMP
  FELDGEGFGDDSPPPGLSRVIAQVDGSSQFAAVAASSAVRLTPAANAPPLWVPGAIGSPSQEAVRPPSNFTGSSP
  WMEISGPPFEIGSAPAGVDDTPVNMDSPPIALDGPPIKVSGAPDKRERAERPPVEEEAAEMEGAADAAEGGKVPS
  PGYGSPAAGAASADTAARAAPAAPADPDSGATPEDPDSGTAPADPDSGAFAADPDSGAAPAAPADPDSGAAPDAP
  ADPDSGAAPDAPADPDAGAAPEAPAAPAAAETRAAHVAPAAPDAGAPTAPAASATRAAQVRRAASAAPASGARRK
  IHLRPPSPEIQAADPPTPRPTRASAWRGKSESSRGRRVYYDEGVASSDDDSSGDESDDGTSGCLRWFQHRRNRRR
  RKPQRNLLRNFLVQAFGGCFGRSESPQPKASRSLKVKKVPLAEKRRQMRKEALEKRAQKRAEKKRSKLIDKQLQD
  EKMGYMCTHRLLLLGAGESGKSTIVKQMRILHVNGFNGEGGEEDPQAARSNSDGEKATKVQDIKNNLKEAIETIV
  AAMSNLVPPVELANPENQFRVDYILSVMNVPDFDFPPEFYEHAKALWEDEGVRACYERSNEYQLIDCAQYFLDKI
  DVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHMFDVGGQRDERRKWIQCFNDVTAIIFVVASSSYNMVI
  REDNQTNRLQEALNLFKSIWNNRWLRTISVILFLNKQDLLAEKVLAGKSKIEDYFPEFARYTTPEDATPEPGEDP
  RVTRAKYFIRDEFLRISTASGDGRHYCYPHFTCAVDTENIRRVFNDCRDIIQRMHLRQYELL
• Structural information:

  Interpro:	IPR000367  IPR001019  IPR011025  IPR027417
  CDD:	cd00066
  MINT:
  STRING:	ENSP00000360141

• Other Databases: GeneCards:  GNAS  Malacards:  GNAS

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003674	molecular_function	ND	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007565	female pregnancy	NAS	biological process
GO:0009306	protein secretion	NAS	biological process
GO:0030133	transport vesicle	IEA	cellular component
GO:0040015	negative regulation of multicellular organism growth	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0071107	response to parathyroid hormone	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007565	female pregnancy	NAS	biological process
GO:0009306	protein secretion	NAS	biological process
GO:0030133	transport vesicle	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0040015	negative regulation of multicellular organism growth	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0071107	response to parathyroid hormone	IEA	biological process
GO:0071107	response to parathyroid hormone	IMP	biological process
GO:0003674	molecular_function	ND	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0007565	female pregnancy	NAS	biological process
GO:0009306	protein secretion	NAS	biological process
GO:0040015	negative regulation of multicellular organism growth	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0071107	response to parathyroid hormone	IMP	biological process
GO:0003091	renal water homeostasis	TAS	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005834	heterotrimeric G-protein complex	ISS	cellular component
GO:0005834	heterotrimeric G-protein complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	ISS	biological process
GO:0007608	sensory perception of smell	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030819	positive regulation of cAMP biosynthetic process	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046907	intracellular transport	NAS	biological process
GO:0048589	developmental growth	IDA	biological process
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0050890	cognition	IDA	biological process
GO:0060348	bone development	IDA	biological process
GO:0060789	hair follicle placode formation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IDA	biological process
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:0071380	cellular response to prostaglandin E stimulus	ISS	biological process
GO:0071870	cellular response to catecholamine stimulus	ISS	biological process
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003091	renal water homeostasis	TAS	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004871	signal transducer activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005834	heterotrimeric G-protein complex	ISS	cellular component
GO:0005834	heterotrimeric G-protein complex	TAS	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	ISS	biological process
GO:0007608	sensory perception of smell	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0030819	positive regulation of cAMP biosynthetic process	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046907	intracellular transport	NAS	biological process
GO:0048589	developmental growth	IDA	biological process
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0050890	cognition	IDA	biological process
GO:0060348	bone development	IDA	biological process
GO:0060789	hair follicle placode formation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IDA	biological process
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:0071380	cellular response to prostaglandin E stimulus	ISS	biological process
GO:0071870	cellular response to catecholamine stimulus	ISS	biological process
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	biological process
GO:0003091	renal water homeostasis	TAS	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0004871	signal transducer activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005834	heterotrimeric G-protein complex	ISS	cellular component
GO:0005834	heterotrimeric G-protein complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IDA	biological process
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	ISS	biological process
GO:0007608	sensory perception of smell	TAS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0030819	positive regulation of cAMP biosynthetic process	IDA	biological process
GO:0031224	intrinsic component of membrane	IDA	cellular component
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0043950	positive regulation of cAMP-mediated signaling	IDA	biological process
GO:0046907	intracellular transport	NAS	biological process
GO:0048589	developmental growth	IDA	biological process
GO:0050796	regulation of insulin secretion	TAS	biological process
GO:0050890	cognition	IDA	biological process
GO:0060348	bone development	IDA	biological process
GO:0060789	hair follicle placode formation	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IDA	biological process
GO:0071377	cellular response to glucagon stimulus	TAS	biological process
GO:0071380	cellular response to prostaglandin E stimulus	ISS	biological process
GO:0071870	cellular response to catecholamine stimulus	ISS	biological process
GO:0071880	adenylate cyclase-activating adrenergic receptor signaling pathway	IDA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0009966	regulation of signal transduction	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0048589	developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070527	platelet aggregation	IMP	biological process
GO:0001726	ruffle	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0009966	regulation of signal transduction	IMP	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0048589	developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070527	platelet aggregation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0009966	regulation of signal transduction	IMP	biological process
GO:0016020	membrane	IDA	cellular component
GO:0048589	developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070527	platelet aggregation	IMP	biological process
GO:0001894	tissue homeostasis	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0005159	insulin-like growth factor receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006112	energy reserve metabolic process	IEA	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IBA	biological process
GO:0007606	sensory perception of chemical stimulus	IBA	biological process
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0031698	beta-2 adrenergic receptor binding	IBA	molecular function
GO:0031748	D1 dopamine receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035255	ionotropic glutamate receptor binding	IBA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0040032	post-embryonic body morphogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048589	developmental growth	IMP	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0050890	cognition	IMP	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:0071514	genetic imprinting	IEA	biological process
GO:2000828	regulation of parathyroid hormone secretion	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001501	skeletal system development	IEA	biological process
GO:0001894	tissue homeostasis	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0004871	signal transducer activity	IEA	molecular function
GO:0005159	insulin-like growth factor receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006112	energy reserve metabolic process	IEA	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IEA	biological process
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IEA	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IBA	biological process
GO:0007606	sensory perception of chemical stimulus	IBA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0019001	guanyl nucleotide binding	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0031683	G-protein beta/gamma-subunit complex binding	IEA	molecular function
GO:0031698	beta-2 adrenergic receptor binding	IBA	molecular function
GO:0031748	D1 dopamine receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0035116	embryonic hindlimb morphogenesis	IEA	biological process
GO:0035255	ionotropic glutamate receptor binding	IBA	molecular function
GO:0035264	multicellular organism growth	IEA	biological process
GO:0040032	post-embryonic body morphogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0045669	positive regulation of osteoblast differentiation	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0048589	developmental growth	IMP	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0050890	cognition	IMP	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process
GO:0071514	genetic imprinting	IEA	biological process
GO:2000828	regulation of parathyroid hormone secretion	IEA	biological process
GO:0005159	insulin-like growth factor receptor binding	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	ISS	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007189	adenylate cyclase-activating G-protein coupled receptor signaling pathway	IMP	biological process
GO:0007191	adenylate cyclase-activating dopamine receptor signaling pathway	IBA	biological process
GO:0007606	sensory perception of chemical stimulus	IBA	biological process
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0031698	beta-2 adrenergic receptor binding	IBA	molecular function
GO:0031748	D1 dopamine receptor binding	IBA	molecular function
GO:0031852	mu-type opioid receptor binding	IBA	molecular function
GO:0035255	ionotropic glutamate receptor binding	IBA	molecular function
GO:0048589	developmental growth	IMP	biological process
GO:0050890	cognition	IMP	biological process
GO:0051430	corticotropin-releasing hormone receptor 1 binding	IBA	molecular function
GO:0060348	bone development	IMP	biological process
GO:0060789	hair follicle placode formation	IMP	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070527	platelet aggregation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04020	Calcium signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04024	cAMP signaling pathway
hsa04540	Gap junction
hsa04611	Platelet activation
hsa04911	Insulin secretion
hsa04922	Glucagon signaling pathway
hsa04923	Regulation of lipolysis in adipocytes
hsa04912	GnRH signaling pathway
hsa04913	Ovarian steroidogenesis
hsa04915	Estrogen signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04926	Relaxin signaling pathway
hsa04918	Thyroid hormone synthesis
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04916	Melanogenesis
hsa04924	Renin secretion
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04270	Vascular smooth muscle contraction
hsa04970	Salivary secretion
hsa04971	Gastric acid secretion
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa04962	Vasopressin-regulated water reabsorption
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04724	Glutamatergic synapse
hsa04728	Dopaminergic synapse
hsa04726	Serotonergic synapse
hsa04730	Long-term depression
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04713	Circadian entrainment
hsa04714	Thermogenesis
hsa05200	Pathways in cancer
hsa05030	Cocaine addiction
hsa05031	Amphetamine addiction
hsa05032	Morphine addiction
hsa05034	Alcoholism
hsa05414	Dilated cardiomyopathy
hsa04934	Cushing syndrome
hsa05110	Vibrio cholerae infection
hsa05163	Human cytomegalovirus infection
hsa05165	Human papillomavirus infection
hsa05146	Amoebiasis
hsa05142	Chagas disease
hsa01522	Endocrine resistance

Diseases

Associated diseases	References
Cancer	GAD: 20027678
Cancer (Adenoma)	GAD: 19169048
Cancer (bladder)	GAD: 15824158
Cancer (colorectal)	GAD: 16033819
Cancer (esophageal)	GAD: 19274060
Cancer (fibrosarcoma)	GAD: 19287459
Cancer (gastric)	GAD: 20027678
Cancer (kidney)	GAD: 16467086
Cancer (leukemia)	GAD: 17020971
Cancer (liver)	GAD: 17356712
Cancer (melanoma)	GAD: 21156401
Cancer (pancreatic)	GAD: 19351817
Cancer (prostate)	GAD: 19189654
Cancer (Squamous cell)	GAD: 18347176
Cancer (breast)	GAD: 17186357
Atherosclerosis	GAD: 19948975
Cardiovascular disease	GAD: 20023040
Hypertension	GAD: 12215464
Hypertension	GAD: 15479166
Hypotension	GAD: 11910300
Blood pressure	GAD: 16210433
Pseudohypoparathyroidism	KEGG: H00244
Cushing's syndrome	KEGG: H01431
Asthma	GAD: 12724032
Obesity	GAD: 17062894
Diabetes	GAD: 15894831
Acromegaly	KEGG: H01483
Bone diseases	GAD: 18553568
Migraine disorder	GAD: 17388805
Autonomic nervous system diseases	GAD: 19243996
Psychological disorders	GAD: 12116190
Schizophrenia	GAD: 16406317
Bulimia	GAD: 20468064
Depression	GAD: 12116190
Polycystic ovary syndrome (PCOS)	INFBASE: 17062894
Hypothyroidism	INFBASE: 20979189
Pseudohypohyperparathyroidism Combined With Turner Syndrome	INFBASE: 26488942
Robinow syndrome	KEGG: H0085
Male factor infertility	MIK: 25762640
Male factor infertility	MIK: 26804237
Hypogonadotropic hypogonadism	MIK: 20979189
Male factor infertility	MIK: 26804237
Azoospermia	MIK: 25762640
Defective human spermatozoa	MIK: 26804237
Globozoospermia	MIK: 25762640
Albright hereditary osteodystrophy	GAD: 12621129
Progressive osseous heteroplasia	KEGG: H00441
Non-obstructive azoospermia	MIK: 8579477
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Asthenozoospermia	MIK: 26804237
Male infertility	MIK: 26804237
Azoospermia	MIK: 25762640
Globozoospermia	MIK: 25762640
Cryptorchidism	MIK: 28606200
Defective human spermatozoa	MIK: 26804237
Hypogonadism	MIK: 20979189
Hypothyroidism	MIK: 20979189
Male infertility	MIK: 26804237
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20979189	Hypogonadism, hypothyroidism	Gs? R231H		3 obesity, intellectual disability, hypogonadism, hypothyroidism	Male infertility, Female infertility
25762640	Azoospermia, Globozoospermia				Male infertility	GDAP1L1 GNAS KCNK9 LIN28B RB1 RTL1 SLC22A18 ZDBF2
26804237	Asthenozoospermia, Male infertility			95 (46 Asthenozoospermia patients and 49 age-matched normal controls)	Male infertility
30373665	Idiopathic male infertility		Han Chi nese	135 (normozoospermia (n?=?39), moderate oligozoospermia (n?=?45), and severe oligozoospermia (n?=?51), and fertile controls (n?=?59))	Male infertility	NGS (Methylation pattern)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq