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

Gene ID: 8516, updated on 5-Mar-2024

Summary

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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
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Genomic context

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Location:
10p13
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (15513954..15719922, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (15531985..15737921, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (15555953..15761921, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376433 Neighboring gene uncharacterized LOC107984211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15290229-15290730 Neighboring gene family with sequence similarity 171 member A1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:15297713-15298356 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15310079-15310579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3094 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr10:15366997-15368196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2172 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2173 Neighboring gene Sharpr-MPRA regulatory region 1502 Neighboring gene MPRA-validated peak874 silencer Neighboring gene Sharpr-MPRA regulatory region 6046 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:15514928-15515649 Neighboring gene MPRA-validated peak875 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2174 Neighboring gene Sharpr-MPRA regulatory region 12763 Neighboring gene Sharpr-MPRA regulatory region 7083 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:15731307-15731808 Neighboring gene MPRA-validated peak877 silencer Neighboring gene uncharacterized LOC124902383 Neighboring gene MPRA-validated peak878 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3095 Neighboring gene MINDY lysine 48 deubiquitinase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3096 Neighboring gene Sharpr-MPRA regulatory region 8556 Neighboring gene small nucleolar RNA U13

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. LINC01798/miR-17-5p axis regulates ITGA8 and causes changes in tumor microenvironment and stemness in lung adenocarcinoma. Li X, et al. Front Immunol, 2023. PMID 36911684, Free PMC Article
  2. Bi-allelic pathogenic variants in ITGA8 cause slowly progressive renal disease of unknown etiology. Gómez-Conde S, et al. Clin Genet, 2023 Jan. PMID 36089563
  3. Glucocorticoids increase the risk of preterm premature rupture of membranes possibly by inducing ITGA8 gene expression in the amnion. Okazaki Y, et al. Placenta, 2022 Oct. PMID 36088840
  4. ITGA8 positive cells in the conventional outflow tissue exhibit Schlemm's canal endothelial cell properties. Wang Y, et al. Life Sci, 2021 Aug 1. PMID 33961857
  5. Induced hepatic stellate cell integrin, α8β1, enhances cellular contractility and TGFβ activity in liver fibrosis. Nishimichi N, et al. J Pathol, 2021 Apr. PMID 33433924, Free PMC Article

See all (46) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Hypermethylated ITGA8 Facilitate Bladder Cancer Cell Proliferation and Metastasis.
    Title: Hypermethylated ITGA8 Facilitate Bladder Cancer Cell Proliferation and Metastasis.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Mutations of ITGA8 are a genetic cause of bilateral renal agenesis and that, at least in some cases, bilateral renal agenesis is an autosomal-recessive disease.
    Title: Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
  10. the ITGA8 gene might have gender-specific roles in the development of schizophrenia.
    Title: A missense mutation in the ITGA8 gene, a cell adhesion molecule gene, is associated with schizophrenia in Japanese female patients.
Submit: New GeneRIF Correction See all GeneRIFs (21)

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
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

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 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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NEW Try the new Transcript table

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

  1. NG_034116.1 RefSeqGene

    Range
    5414..211382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

  2. 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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    15513954..15719922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    15531985..15737921 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367051.1 → XP_054223026.1  integrin alpha-8 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P53708.3 GenPept UniProtKB/Swiss-Prot:P53708

Gene LinkOut

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