ITGA8 (integrin subunit alpha 8)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 8516
Gene name Integrin subunit alpha 8
Gene symbol ITGA8
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10p13
Summary 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
SNPs SNP information provided by dbSNP.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
SNP ID Visualize variation Clinical significance Consequence
rs374664941 C>T Pathogenic Coding sequence variant, missense variant
rs587777279 A>G Pathogenic Genic downstream transcript variant, splice donor variant
rs587777280 ACCTC>- Pathogenic Coding sequence variant, frameshift variant
rs748467820 G>A,T Likely-benign, pathogenic Coding sequence variant, synonymous variant, missense variant
rs1554775668 ->A Pathogenic Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (38)
miRTarBase ID miRNA Experiments Reference
MIRT047150 hsa-miR-183-5p CLASH 23622248
MIRT040247 hsa-miR-615-3p CLASH 23622248
MIRT547808 hsa-miR-6844 HITS-CLIP 21572407
MIRT547807 hsa-miR-4709-3p HITS-CLIP 21572407
MIRT547808 hsa-miR-6844 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001656 Process Metanephros development IEA
GO:0001704 Process Formation of primary germ layer IEA
GO:0001822 Process Kidney development IEA
GO:0001822 Process Kidney development IMP 24439109
GO:0005783 Component Endoplasmic reticulum IDA 24439109
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604063 6144 ENSG00000077943
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P53708
Protein name Integrin alpha-8 [Cleaved into: Integrin alpha-8 heavy chain; Integrin alpha-8 light chain]
Protein function Integrin alpha-8/beta-1 functions in the genesis of kidney and probably of other organs by regulating the recruitment of mesenchymal cells into epithelial structures. It recognizes the sequence R-G-D in a wide array of ligands including TNC, FN1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01839 FG-GAP 321 → 363 FG-GAP repeat Repeat
PF01839 FG-GAP 386 → 422 FG-GAP repeat Repeat
PF08441 Integrin_alpha2 483 → 934 Integrin alpha Family
PF00357 Integrin_alpha 1035 → 1049 Integrin alpha cytoplasmic region Family
Tissue specificity 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:0000269|PubMed:10504498, ECO:0000269|PubMed:7768999}.
Sequence 
MSPGASRGPRGSQAPLIAPLCCAAAALGMLLWSPACQAFNLDVEKLTVYSGPKGSYFGYA
VDFHIPDARTASVLVGAPKANTSQPDIVEGGAVYYCPWPAEGSAQCRQIPFDTTNNRKIR
VNGTKEPIEFKSNQWFGATVKAHKGKVVACAPLYHWRTLKPTPEKDPVGTCYVAIQNFSA
YAEFSPCRNSNADPEGQGYCQAGFSLDFYKNGDLIVGGPGSFYWQGQVITASVADIIANY
SFKDILRKLAGEKQTEVAPASYDDSYLGYSVAAGEFTGDSQQELVAGIPRGAQNFGYVSI
INSTDMTFIQNFTGEQMASYFGYTVVVSDVNSDGLDDVLVGAPLFMEREFESNPREVGQI
YLYLQVSSLLFRDPQILTGTETFGRFGSAMAHLGDLNQDGYNDIAIGVPFAGKDQRGKVL
IYNGNKDGLNTKPSQVLQGVWASHAVPSGFGFTLRGDSDIDKNDYPDLIVGAFGTGKVAV
YRARPVVTVDAQLLLHPMIINLENKTCQVPDSMTSAACFSLRVCASVTGQSIANTIVLMA
EVQLDSLKQKGAIKRTLFLDNHQAHRVFPLVIKRQKSHQCQDFIVYLRDETEFRDKLSPI
NISLNYSLDESTFKEGLEVKPILNYYRENIVSEQAHILVDCGEDNLCVPDLKLSARPDKH
QVIIGDENHLMLIINARNEGEGAYEAELFVMIPEEADYVGIERNNKGFRPLSCEYKMENV
TRMVVCDLGNPMVSGTNYSLGLRFAVPRLEKTNMSINFDLQIRSSNKDNPDSNFVSLQIN
ITAVAQVEIRGVSHPPQIVLPIHNWEPEEEPHKEEEVGPLVEHIYELHNIGPSTISDTIL
EVGWPFSARDEFLLYIFHIQTLGPLQCQPNPNINPQDIKPAASPEDTPELSAFLRNSTIP
HLVRKRDVHVVEFHRQSPAKILNCTNIECLQISCAVGRLEGGESAVLKVRSRLWAHTFLQ
RKNDPYALASLVSFEVKKMPYTDQPAKLPEGSIVIKTSVIWATPNVSFSIPLWVIILAIL
LGLLVLAILTLALWKCGFFDRARPPQEDMTDREQLTNDKTPEA
Sequence length 1063
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
ECM proteoglycans
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ITGA8-related disorder Pathogenic rs374664941 RCV004755774
Renal hypodysplasia/aplasia 1 Likely pathogenic; Pathogenic rs765166981, rs587777279, rs587777280, rs374664941, rs2491851327, rs2491052121, rs749220565 RCV001782316
RCV000114393
RCV000114394
RCV000114395
RCV002285095
RCV003388702
RCV003989402
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hepatocellular carcinoma Benign rs6602051 RCV005920166
Show/Hide Text Mining Associations (20)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30106131, 36911684
Cakut Associate 29197384, 37499630
Carcinoma Hepatocellular Associate 12174369
Carcinoma Renal Cell Associate 26198048
Carcinoma Renal Cell Inhibit 36911684
Colonic Neoplasms Associate 31322253
Colorectal Neoplasms Associate 25997610
COVID 19 Associate 33413422
Fibrosis Associate 17652099
Fraser Syndrome Associate 29197384