ITGA8 integrin subunit alpha 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ITGA8provided by HGNC
Official Full Name: integrin subunit alpha 8provided by HGNC
Primary source: HGNC:HGNC:6144
See related: Ensembl:ENSG00000077943 MIM:604063; AllianceGenome:HGNC:6144
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 gene encodes the alpha 8 subunit of the heterodimeric integrin alpha8beta1 protein. The encoded protein is a single-pass type 1 membrane protein that contains multiple FG-GAP repeats. This repeat is predicted to fold into a beta propeller structure. This gene regulates the recruitment of mesenchymal cells into epithelial structures, mediates cell-cell interactions, and regulates neurite outgrowth of sensory and motor neurons. The integrin alpha8beta1 protein thus plays an important role in wound-healing and organogenesis. Mutations in this gene have been associated with renal hypodysplasia/aplasia-1 (RHDA1) and with several animal models of chronic kidney disease. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2014]
Expression: Broad expression in prostate (RPKM 17.7), lung (RPKM 11.8) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10p13

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (15513954..15719922, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (15531985..15737921, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (15555953..15761921, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Expression Profiles of ITGA8 and VANGL2 Are Altered in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Title: Expression Profiles of ITGA8 and VANGL2 Are Altered in Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
M2 macrophage-derived exosomal circTMCO3 acts through miR-515-5p and ITGA8 to enhance malignancy in ovarian cancer.
Title: M2 macrophage-derived exosomal circTMCO3 acts through miR-515-5p and ITGA8 to enhance malignancy in ovarian cancer.
Hypermethylated ITGA8 Facilitate Bladder Cancer Cell Proliferation and Metastasis.
Title: Hypermethylated ITGA8 Facilitate Bladder Cancer Cell Proliferation and Metastasis.
LINC01798/miR-17-5p axis regulates ITGA8 and causes changes in tumor microenvironment and stemness in lung adenocarcinoma.
Title: LINC01798/miR-17-5p axis regulates ITGA8 and causes changes in tumor microenvironment and stemness in lung adenocarcinoma.
Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
Title: Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology.
Glucocorticoids increase the risk of preterm premature rupture of membranes possibly by inducing ITGA8 gene expression in the amnion.
Title: Glucocorticoids increase the risk of preterm premature rupture of membranes possibly by inducing ITGA8 gene expression in the amnion.
ITGA8 positive cells in the conventional outflow tissue exhibit Schlemm's canal endothelial cell properties.
Title: ITGA8 positive cells in the conventional outflow tissue exhibit Schlemm's canal endothelial cell properties.
Integrin alpha8beta1 is the most fibroblast specific integrin and its contribution to fibrosis remains controversial. Recently, we demonstrated that alpha8beta1 plays a role in liver fibrosis in 4 different settings of mouse models; 3 with a neutralizing monoclonal antibody and one with Tam-inducible knockout mice. The mechanisms for the pro-fibrotic roles are through myofibroblast differentiation and TGF-beta activation.
Title: Induced hepatic stellate cell integrin, α8β1, enhances cellular contractility and TGFβ activity in liver fibrosis.
ITGA2B and ITGA8 have roles in prognosis in clear cell renal cell carcinoma patients
Title: ITGA2B and ITGA8 are predictive of prognosis in clear cell renal cell carcinoma patients.
In 15 of 590 families, we identified recessive mutations in the genes FRAS1, FREM2, GRIP1, FREM1, ITGA8, and GREM1, all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
Title: Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Renal hypodysplasia/aplasia 1 MedGen: C1619700 OMIM: 191830 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of chronic periodontitis in a general German population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study reveals genetic risk underlying Parkinson's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of integrin, alpha 8 (ITGA8) in primary human brain microvascular endothelial cells	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48069 (e-PCR)
- UniSTS:33299

D10S1312E (e-PCR)
- UniSTS:151344

D10S1653 (e-PCR), detects polymorphism
- UniSTS:34171

AFMA191WH5 (e-PCR)
- UniSTS:76950

CHLC.GGAT21B04 (e-PCR)
- UniSTS:55447

SHGC-147889 (e-PCR)
- UniSTS:176076

SHGC-150836 (e-PCR)
- UniSTS:173519

SHGC-81229 (e-PCR)
- UniSTS:102365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables integrin binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion mediated by integrin	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in establishment of protein localization	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix organization	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in integrin-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in memory	IEA Inferred from Electronic Annotation more info
involved_in mesodermal cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in metanephros development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in smooth muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in substrate adhesion-dependent cell spreading	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transforming growth factor beta receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in dendritic spine membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
part_of integrin alpha8-beta1 complex	TAS Traceable Author Statement more info	PubMed
part_of integrin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of integrin complex	TAS Traceable Author Statement more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: integrin alpha-8

Names: integrin, alpha 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_034116.1 RefSeqGene

Range

5414..211382

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001291494.2 → NP_001278423.1 integrin alpha-8 isoform 2 preproprotein

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. It encodes a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AK297740, AL590636, BU735798, DB237365, DC425586

UniProtKB/TrEMBL

B4DN28

Conserved Domains (3) summary

smart00191
Location:368 → 422

Int_alpha; Integrin alpha (beta-propellor repeats)

pfam00357
Location:1020 → 1034

Integrin_alpha; Integrin alpha cytoplasmic region

pfam08441
Location:468 → 919

Integrin_alpha2; Integrin alpha
NM_003638.3 → NP_003629.2 integrin alpha-8 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_003629.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK297740, AL590636, BU735798, DB237365, DC425586, L36531

Consensus CDS

CCDS31155.1

UniProtKB/Swiss-Prot

B0YJ31, P53708, Q5VX94

UniProtKB/TrEMBL

B4DN28

Related

ENSP00000367316.3, ENST00000378076.4

Conserved Domains (3) summary

smart00191
Location:383 → 437

Int_alpha; Integrin alpha (beta-propellor repeats)

pfam00357
Location:1035 → 1049

Integrin_alpha; Integrin alpha cytoplasmic region

pfam08441
Location:483 → 934

Integrin_alpha2; Integrin alpha

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000010.11 Reference GRCh38.p14 Primary Assembly

Range

15513954..15719922 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011519752.3 → XP_011518054.1 integrin alpha-8 isoform X1

Conserved Domains (2) summary

smart00191
Location:383 → 437

Int_alpha; Integrin alpha (beta-propellor repeats)

pfam08441
Location:483 → 797

Integrin_alpha2; Integrin alpha