• Gene id: 8516

Gene Summary

• Gene Symbol: ITGA8   Gene   UCSC   Ensembl
• Gene name: integrin subunit alpha 8
• Alternate names: integrin alpha-8, integrin, alpha 8,
• Gene location: 10p13 (15720334: 15513948)     Exons: 31     NC_000010.11
• Gene summary(Entrez): Integrins are heterodimeric transmembrane receptor proteins that mediate numerous cellular processes including cell adhesion, cytoskeletal rearrangement, and activation of cell signaling pathways. Integrins are composed of alpha and beta subunits. This ge

Protein Summary

• Protein general information: P53708  
  • Name: Integrin alpha 8 [Cleaved into: Integrin alpha 8 heavy chain; Integrin alpha 8 light chain]
  • Length: 1063  
  • Mass: 117474
  • Tissue specificity: Expressed in mesenchymal cells, including alveolar myofibroblasts, kidney mesangial cells and hepatic stellar cells and vascular and visceral smooth muscle (at protein level). {ECO
• Sequence:

  MSPGASRGPRGSQAPLIAPLCCAAAALGMLLWSPACQAFNLDVEKLTVYSGPKGSYFGYAVDFHIPDARTASVLV
  GAPKANTSQPDIVEGGAVYYCPWPAEGSAQCRQIPFDTTNNRKIRVNGTKEPIEFKSNQWFGATVKAHKGKVVAC
  APLYHWRTLKPTPEKDPVGTCYVAIQNFSAYAEFSPCRNSNADPEGQGYCQAGFSLDFYKNGDLIVGGPGSFYWQ
  GQVITASVADIIANYSFKDILRKLAGEKQTEVAPASYDDSYLGYSVAAGEFTGDSQQELVAGIPRGAQNFGYVSI
  INSTDMTFIQNFTGEQMASYFGYTVVVSDVNSDGLDDVLVGAPLFMEREFESNPREVGQIYLYLQVSSLLFRDPQ
  ILTGTETFGRFGSAMAHLGDLNQDGYNDIAIGVPFAGKDQRGKVLIYNGNKDGLNTKPSQVLQGVWASHAVPSGF
  GFTLRGDSDIDKNDYPDLIVGAFGTGKVAVYRARPVVTVDAQLLLHPMIINLENKTCQVPDSMTSAACFSLRVCA
  SVTGQSIANTIVLMAEVQLDSLKQKGAIKRTLFLDNHQAHRVFPLVIKRQKSHQCQDFIVYLRDETEFRDKLSPI
  NISLNYSLDESTFKEGLEVKPILNYYRENIVSEQAHILVDCGEDNLCVPDLKLSARPDKHQVIIGDENHLMLIIN
  ARNEGEGAYEAELFVMIPEEADYVGIERNNKGFRPLSCEYKMENVTRMVVCDLGNPMVSGTNYSLGLRFAVPRLE
  KTNMSINFDLQIRSSNKDNPDSNFVSLQINITAVAQVEIRGVSHPPQIVLPIHNWEPEEEPHKEEEVGPLVEHIY
  ELHNIGPSTISDTILEVGWPFSARDEFLLYIFHIQTLGPLQCQPNPNINPQDIKPAASPEDTPELSAFLRNSTIP
  HLVRKRDVHVVEFHRQSPAKILNCTNIECLQISCAVGRLEGGESAVLKVRSRLWAHTFLQRKNDPYALASLVSFE
  VKKMPYTDQPAKLPEGSIVIKTSVIWATPNVSFSIPLWVIILAILLGLLVLAILTLALWKCGFFDRARPPQEDMT
  DREQLTNDKTPEA

• Structural information:
  • Interpro: IPR013517  IPR013519  IPR000413  IPR013649  IPR018184   IPR028994  IPR032695  
  • Prosite: PS51470 PS00242
  • STRING: ENSP00000367316
• Other Databases: GeneCards:  ITGA8  Malacards:  ITGA8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007155	cell adhesion	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
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:0030198	extracellular matrix organization	TAS	biological process
GO:0001656	metanephros development	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0030030	cell projection organization	IEA	biological process
GO:0042472	inner ear morphogenesis	IEA	biological process
GO:0045177	apical part of cell	IEA	cellular component
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0032591	dendritic spine membrane	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0045184	establishment of protein localization	IEA	biological process
GO:2000721	positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0014069	postsynaptic density	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0034678	integrin alpha8-beta1 complex	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0048333	mesodermal cell differentiation	IEP	biological process
GO:0007160	cell-matrix adhesion	IMP	biological process
GO:0034446	substrate adhesion-dependent cell spreading	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0001822	kidney development	IMP	biological process
GO:0008305	integrin complex	TAS	cellular component
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0007160	cell-matrix adhesion	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04514	Cell adhesion molecules
hsa05414	Dilated cardiomyopathy
hsa04512	ECM-receptor interaction
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy

Diseases

Associated diseases	References
Potter syndrome	KEGG:H01728
Renal hypodysplasia and aplasia	KEGG:H00822
Potter syndrome	KEGG:H01728
Renal hypodysplasia and aplasia	KEGG:H00822
Ovarian cancer	PMID:17303177
Schizophrenia	PMID:23153507
autosomal dominant polycystic kidney disease	PMID:18277079
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray