• Gene id: 3696

Gene Summary

• Gene Symbol: ITGB8   Gene   UCSC   Ensembl
• Gene name: integrin subunit beta 8
• Alternate names: integrin beta-8,
• Gene location: 7p21.1 (20329818: 20415753)     Exons: 20     NC_000007.14
• Gene summary(Entrez): This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In
• OMIM: 604160

Protein Summary

• Protein general information: P26012  
  • Name: Integrin beta 8
  • Length: 769  
  • Mass: 85632
  • Tissue specificity: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells. {ECO
• Sequence:

  MCGSALAFFTAAFVCLQNDRRGPASFLWAAWVFSLVLGLGQGEDNRCASSNAASCARCLALGPECGWCVQEDFIS
  GGSRSERCDIVSNLISKGCSVDSIEYPSVHVIIPTENEINTQVTPGEVSIQLRPGAEANFMLKVHPLKKYPVDLY
  YLVDVSASMHNNIEKLNSVGNDLSRKMAFFSRDFRLGFGSYVDKTVSPYISIHPERIHNQCSDYNLDCMPPHGYI
  HVLSLTENITEFEKAVHRQKISGNIDTPEGGFDAMLQAAVCESHIGWRKEAKRLLLVMTDQTSHLALDSKLAGIV
  VPNDGNCHLKNNVYVKSTTMEHPSLGQLSEKLIDNNINVIFAVQGKQFHWYKDLLPLLPGTIAGEIESKAANLNN
  LVVEAYQKLISEVKVQVENQVQGIYFNITAICPDGSRKPGMEGCRNVTSNDEVLFNVTVTMKKCDVTGGKNYAII
  KPIGFNETAKIHIHRNCSCQCEDNRGPKGKCVDETFLDSKCFQCDENKCHFDEDQFSSESCKSHKDQPVCSGRGV
  CVCGKCSCHKIKLGKVYGKYCEKDDFSCPYHHGNLCAGHGECEAGRCQCFSGWEGDRCQCPSAAAQHCVNSKGQV
  CSGRGTCVCGRCECTDPRSIGRFCEHCPTCYTACKENWNCMQCLHPHNLSQAILDQCKTSCALMEQQHYVDQTSE
  CFSSPSYLRIFFIIFIVTFLIGLLKVLIIRQVILQWNSNKIKSSSDYRVSASKKDKLILQSVCTRAVTYRREKPE
  EIKMDISKLNAHETFRCNF

• Structural information:
  • Protein Domains: (146..38-)
    (/note="VWFA"-)
  • Interpro: IPR013032  IPR013111  IPR033760  IPR015812  IPR015442   IPR002369  IPR032695  IPR016201  IPR036465  
  • Prosite: PS00022 PS01186 PS00243
  • PDB: 6DJP 6OM1 6OM2
  • PDBsum: 6DJP 6OM1 6OM2
  • STRING: ENSP00000222573
• Other Databases: GeneCards:  ITGB8  Malacards:  ITGB8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	TAS	biological process
GO:0008305	integrin 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:0030198	extracellular matrix organization	TAS	biological process
GO:0001573	ganglioside metabolic process	IEA	biological process
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0034686	integrin alphav-beta8 complex	IEA	cellular component
GO:1901388	regulation of transforming growth factor beta activation	IEA	biological process
GO:0060674	placenta blood vessel development	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IMP	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:1990430	extracellular matrix protein binding	IDA	molecular function
GO:0009986	cell surface	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0034686	integrin alphav-beta8 complex	IDA	cellular component
GO:0034686	integrin alphav-beta8 complex	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051216	cartilage development	IMP	biological process
GO:0007160	cell-matrix adhesion	IMP	NOT|biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0033627	cell adhesion mediated by integrin	IBA	biological process
GO:0016477	cell migration	IBA	biological process
GO:0007229	integrin-mediated signaling pathway	IBA	biological process
GO:0005925	focal adhesion	IBA	cellular component
GO:0005178	integrin binding	IBA	molecular function
GO:0001570	vasculogenesis	IMP	biological process
GO:1901388	regulation of transforming growth factor beta activation	ISS	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0008305	integrin complex	IEA	cellular component

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
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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