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

    Gene ID: 3696, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:6163
    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
    NEW
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    Genomic context

    See ITGB8 in Genome Data Viewer
    Location:
    7p21.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (20329766..20415754)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (20464766..20550710)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (20370523..20455377)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:20256832-20258031 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:20259517-20260046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25691 Neighboring gene glutamine insufficiency regulator of glutaminase lncRNA Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25692 Neighboring gene uncharacterized LOC101927769 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:20369144-20369756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17991 Neighboring gene ITGB8 antisense RNA 1 Neighboring gene small nucleolar RNA SNORD56 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:20434600-20435799 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:20526689-20527188 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:20599105-20599605 Neighboring gene Sharpr-MPRA regulatory region 1382 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 27 Neighboring gene RAS like proto-oncogene A pseudogene

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables extracellular matrix protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 Langerhans cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cartilage development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell adhesion mediated by integrin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    NOT 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 ganglioside metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in hard palate development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in immune response IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in integrin-mediated signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in integrin-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in placenta blood vessel development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in positive regulation of angiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in response to virus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vasculogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in focal adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of integrin alphav-beta8 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of integrin alphav-beta8 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of integrin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    NCBI Reference Sequences (RefSeq)

    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.

    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
      A4D133, B4DHD4, P26012
      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: 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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      20329766..20415754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515393.3XP_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_017012179.2XP_016867668.1  integrin beta-8 isoform X1

      UniProtKB/Swiss-Prot
      A4D133, B4DHD4, P26012
      Conserved Domains (1) summary
      smart00187
      Location:54469
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    3. XM_047420345.1XP_047276301.1  integrin beta-8 isoform X4

    4. XM_047420341.1XP_047276297.1  integrin beta-8 isoform X4

    5. XM_011515394.3XP_011513696.1  integrin beta-8 isoform X3

      Conserved Domains (1) summary
      smart00187
      Location:43458
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    6. XM_017012178.2XP_016867667.1  integrin beta-8 isoform X1

      UniProtKB/Swiss-Prot
      A4D133, B4DHD4, P26012
      Conserved Domains (1) summary
      smart00187
      Location:54469
      INB; Integrin beta subunits (N-terminal portion of extracellular region)
    7. XM_047420342.1XP_047276298.1  integrin beta-8 isoform X4

    8. XM_047420343.1XP_047276299.1  integrin beta-8 isoform X4

    9. XM_017012183.2XP_016867672.1  integrin beta-8 isoform X4

      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 ...
    10. XM_017012182.2XP_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 ...
    11. XM_017012180.2XP_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 ...
    12. XM_047420344.1XP_047276300.1  integrin beta-8 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      20464766..20550710
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358160.1XP_054214135.1  integrin beta-8 isoform X2

    2. XM_054358162.1XP_054214137.1  integrin beta-8 isoform X4

    3. XM_054358161.1XP_054214136.1  integrin beta-8 isoform X3

    4. XM_054358163.1XP_054214138.1  integrin beta-8 isoform X4

    5. XM_054358164.1XP_054214139.1  integrin beta-8 isoform X4

    6. XM_054358165.1XP_054214140.1  integrin beta-8 isoform X4