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    ITGB8 integrin subunit beta 8 [ Homo sapiens (human) ]

    Gene ID: 3696, updated on 13-Mar-2020

    Summary

    Official Symbol
    ITGB8provided by HGNC
    Official Full Name
    integrin subunit beta 8provided by HGNC
    Primary source
    HGNC:HGNC:6163
    See related
    Ensembl:ENSG00000105855 MIM:604160
    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
    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 general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney (RPKM 12.1), brain (RPKM 11.6) and 19 other tissues See more
    Orthologs

    Genomic context

    See ITGB8 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (20329819..20415754)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20370345..20455382)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC100506098 Neighboring gene uncharacterized LOC101927769 Neighboring gene uncharacterized LOC101927811 Neighboring gene Sharpr-MPRA regulatory region 1382 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 27

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    NOT cell-matrix adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
     
    ganglioside metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    placenta blood vessel development TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transforming growth factor beta activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integrin alphav-beta8 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integrin complex TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    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.

    mRNA and Protein(s)

    1. NM_002214.3NP_002205.1  integrin beta-8 precursor

      See identical proteins and their annotated locations for NP_002205.1

      Status: REVIEWED

      Source sequence(s)
      AC004130, AW516961, BC002630, BI861225, M73780
      Consensus CDS
      CCDS5370.1
      UniProtKB/Swiss-Prot
      P26012
      UniProtKB/TrEMBL
      Q9BUG9
      Related
      ENSP00000222573.3, ENST00000222573.5
      Conserved Domains (1) summary
      smart00187
      Location:54469
      INB; Integrin beta subunits (N-terminal portion of extracellular region)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      20329819..20415754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515393.2XP_011513695.1  integrin beta-8 isoform X2

      Conserved Domains (1) summary
      smart00187
      Location:46461
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    2. XM_017012179.1XP_016867668.1  integrin beta-8 isoform X1

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      smart00187
      Location:54469
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    3. XM_011515394.2XP_011513696.1  integrin beta-8 isoform X3

      Conserved Domains (1) summary
      smart00187
      Location:43458
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    4. XM_017012183.1XP_016867672.1  integrin beta-8 isoform X4

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      cl00057
      Location:1334
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    5. XM_017012180.1XP_016867669.1  integrin beta-8 isoform X4

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      cl00057
      Location:1334
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    6. XM_017012181.1XP_016867670.1  integrin beta-8 isoform X4

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      cl00057
      Location:1334
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    7. XM_011515396.1XP_011513698.1  integrin beta-8 isoform X4

      See identical proteins and their annotated locations for XP_011513698.1

      UniProtKB/Swiss-Prot
      P26012
      Related
      ENSP00000441561.1, ENST00000537992.5
      Conserved Domains (1) summary
      cl00057
      Location:1334
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    8. XM_017012178.1XP_016867667.1  integrin beta-8 isoform X1

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      smart00187
      Location:54469
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    9. XM_017012182.1XP_016867671.1  integrin beta-8 isoform X4

      UniProtKB/Swiss-Prot
      P26012
      Conserved Domains (1) summary
      cl00057
      Location:1334
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
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