Gene Gene information from NCBI Gene database.
Entrez ID 3696
Gene name Integrin subunit beta 8
Gene symbol ITGB8
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7p21.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
893
miRTarBase ID miRNA Experiments Reference
MIRT004104 hsa-miR-93-5p Luciferase reporter assayqRT-PCRWestern blot 20956944
MIRT004104 hsa-miR-93-5p Luciferase reporter assayqRT-PCRWestern blot 20956944
MIRT006279 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006279 hsa-miR-19b-1-5p Luciferase reporter assay 22197821
MIRT006494 hsa-miR-145-5p ImmunofluorescenceLuciferase reporter assayqRT-PCR 21701675
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ATF2 Unknown 21878622
JUN Unknown 21878622
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0001570 Process Vasculogenesis IMP 12050137
GO:0001573 Process Ganglioside metabolic process IEA
GO:0005178 Function Integrin binding IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604160 6163 ENSG00000105855
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P26012
Protein name Integrin beta-8
Protein function Integrin alpha-V:beta-8 (ITGAV:ITGB8) is a receptor for fibronectin (PubMed:1918072). It recognizes the sequence R-G-D in its ligands (PubMed:1918072). Integrin alpha-V:beta-6 (ITGAV:ITGB6) mediates R-G-D-dependent release of transforming growth
PDB 6DJP , 6OM1 , 6OM2 , 6UJA , 6UJB , 6UJC , 7Y1T , 8TCF , 8VS6 , 8VSD , 9IND
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17205 PSI_integrin 45 95 Integrin plexin domain Domain
PF00362 Integrin_beta 142 388 Integrin beta chain VWA domain Domain
PF07974 EGF_2 553 583 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Placenta, kidney, brain, ovary, uterus and in several transformed cells. Transiently expressed in 293 human embryonic kidney cells. {ECO:0000269|PubMed:1918072}.
Sequence
MCGSALAFFTAAFVCLQNDRRGPASFLWAAWVFSLVLGLGQGEDNRCASSNAASCARCLA
LGPECGWCVQEDFISGGSRSERCDIVSNLISKGCS
VDSIEYPSVHVIIPTENEINTQVTP
GEVSIQLRPGAEANFMLKVHPLKKYPVDLYYLVDVSASMHNNIEKLNSVGNDLSRKMAFF
SRDFRLGFGSYVDKTVSPYISIHPERIHNQCSDYNLDCMPPHGYIHVLSLTENITEFEKA
VHRQKISGNIDTPEGGFDAMLQAAVCESHIGWRKEAKRLLLVMTDQTSHLALDSKLAGIV
VPNDGNCHLKNNVYVKSTTMEHPSLGQLSEKLIDNNINVIFAVQGKQFHWYKDLLPLLPG
TIAGEIESKAANLNNLVVEAYQKLISEV
KVQVENQVQGIYFNITAICPDGSRKPGMEGCR
NVTSNDEVLFNVTVTMKKCDVTGGKNYAIIKPIGFNETAKIHIHRNCSCQCEDNRGPKGK
CVDETFLDSKCFQCDENKCHFDEDQFSSESCKSHKDQPVCSGRGVCVCGKCSCHKIKLGK
VYGKYCEKDDFSCPYHHGNLCAGHGECEAGRCQCFSGWEGDRCQCPSAAAQHCVNSKGQV
CSGRGTCVCGRCECTDPRSIGRFCEHCPTCYTACKENWNCMQCLHPHNLSQAILDQCKTS
CALMEQQHYVDQTSECFSSPSYLRIFFIIFIVTFLIGLLKVLIIRQVILQWNSNKIKSSS
DYRVSASKKDKLILQSVCTRAVTYRREKPEEIKMDISKLNAHETFRCNF
Sequence length 769
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cell adhesion molecules
Regulation of actin cytoskeleton
Cytoskeleton in muscle cells
Human papillomavirus infection
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
  Molecules associated with elastic fibres
Integrin cell surface interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
25
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arteriovenous Malformations, Cerebral Cerebral arteriovenous malformation BEFREE 20019187
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 30929738, 31619474
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary Atresia Biliary Atresia BEFREE 25079481
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 30266751
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 12174369, 12679910, 35238496, 37603520 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 22753015
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 35836806 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 30275756 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 30531684
★☆☆☆☆
Found in Text Mining only
Childhood asthma Asthma GWASCAT_DG 30929738, 31036433
★☆☆☆☆
Found in Text Mining only