ITGA8 (integrin subunit alpha 8)

Gene

• 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 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

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
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	21572407
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	21572407
MIRT547808	hsa-miR-6844	PAR-CLIP	21572407
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	21572407
MIRT547808	hsa-miR-6844	HITS-CLIP	21572407
MIRT547807	hsa-miR-4709-3p	HITS-CLIP	21572407
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	20371350
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	20371350
MIRT547808	hsa-miR-6844	PAR-CLIP	21572407
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	21572407
MIRT547808	hsa-miR-6844	PAR-CLIP	21572407
MIRT547807	hsa-miR-4709-3p	PAR-CLIP	21572407

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IMP	24439109
GO:0007160	Process	Cell-matrix adhesion	NAS	7768999
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IEA
GO:0007229	Process	Integrin-mediated signaling pathway	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007613	Process	Memory	IEA
GO:0008305	Component	Integrin complex	IBA
GO:0008305	Component	Integrin complex	IEA
GO:0008305	Component	Integrin complex	TAS	7768999
GO:0009888	Process	Tissue development	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	24439109
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0031589	Process	Cell-substrate adhesion	IEA
GO:0032591	Component	Dendritic spine membrane	IEA
GO:0034446	Process	Substrate adhesion-dependent cell spreading	IMP	24439109
GO:0034678	Component	Integrin alpha8-beta1 complex	TAS	21335239
GO:0038023	Function	Signaling receptor activity	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048333	Process	Mesodermal cell differentiation	IEP	23154389
GO:0048745	Process	Smooth muscle tissue development	IEA
GO:0051145	Process	Smooth muscle cell differentiation	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	NAS	7768999
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 604063
• HGNC: 6144
• e!Ensembl: ENSG00000077943

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Reactome:

Molecules associated with elastic fibres
Integrin cell surface interactions
ECM proteoglycans

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ITGA8-related disorder	Pathogenic	rs374664941	RCV004755774	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal hypodysplasia/aplasia 1	Likely pathogenic; Pathogenic	rs765166981, rs587777279, rs587777280, rs374664941, rs2491851327, rs2491052121, rs749220565	RCV001782316 RCV000114393 RCV000114394 RCV000114395 RCV002285095 RCV003388702 RCV003989402	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL RENAL AGENESIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ABSENCE OF KIDNEYS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30106131		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	29197384, 37499630	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	12174369	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26198048	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36911684	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	31322253	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25997610	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	24439109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	ORPHANET_DG	24439109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	28701000		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	28701000		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30551734		★☆☆☆☆ Found in Text Mining only
Fraser Syndrome	Fraser syndrome	Pubtator	29197384	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29544224		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	17786296		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18277079		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	24439109	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	18277079		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36911684	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	34166375	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17303177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	17303177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	17786296		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23178378, 28008160	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28008160		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	17303177		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	22438815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	29290481		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	29290481	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	18277079		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	LHGDN	18277079		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36911684	Inhibit	★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	UNIPROT_DG	24439109		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal agenesis, bilateral	Renal Agenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	23153507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	23153507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sirenomelia	Sirenomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	17786296		★★☆☆☆ Found in Text Mining + Unknown/Other Associations