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    IGSF8 immunoglobulin superfamily member 8 [ Homo sapiens (human) ]

    Gene ID: 93185, updated on 8-Jul-2018
    Official Symbol
    IGSF8provided by HGNC
    Official Full Name
    immunoglobulin superfamily member 8provided by HGNC
    Primary source
    HGNC:HGNC:17813
    See related
    Ensembl:ENSG00000162729 MIM:606644; Vega:OTTHUMG00000024075
    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
    Also known as
    EWI2; PGRL; CD316; EWI-2; KCT-4; CD81P3; LIR-D1
    Summary
    This gene encodes a member the EWI subfamily of the immunoglobulin protein superfamily. Members of this family contain a single transmembrane domain, an EWI (Glu-Trp-Ile)-motif and a variable number of immunoglobulin domains. This protein interacts with the tetraspanins CD81 and CD9 and may regulate their role in certain cellular functions including cell migration and viral infection. The encoded protein may also function as a tumor suppressor by inhibiting the proliferation of certain cancers. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]
    Expression
    Ubiquitous expression in brain (RPKM 17.6), skin (RPKM 9.6) and 24 other tissues See more
    Orthologs
    See IGSF8 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (160091339..160099442, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160061129..160068650, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class M Neighboring gene potassium voltage-gated channel subfamily J member 10 Neighboring gene potassium voltage-gated channel subfamily J member 9 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of IGSF8 PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell motility NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell proliferation NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nervous system development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    single fertilization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    skeletal muscle tissue development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    integral component of membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane HDA PubMed 
    Preferred Names
    immunoglobulin superfamily member 8
    Names
    CD81 partner 3
    glu-Trp-Ile EWI motif-containing protein 2
    keratinocytes-associated transmembrane protein 4
    prostaglandin regulatory-like protein

    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_030031.1 RefSeqGene

      Range
      5001..12490
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001206665.2NP_001193594.1  immunoglobulin superfamily member 8 precursor

      See identical proteins and their annotated locations for NP_001193594.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AK308115, AL121987, BU172537
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q969P0
      Related
      ENSP00000477565.1, ENST00000614243.4
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain
    2. NM_001320247.1NP_001307176.1  immunoglobulin superfamily member 8 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 3' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      AY044845, AY157579, BM544492, BU172537
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q969P0
      Related
      ENSP00000357065.1, OTTHUMP00000025753, ENST00000368086.5, OTTHUMT00000060636
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain
    3. NM_052868.5NP_443100.1  immunoglobulin superfamily member 8 precursor

      See identical proteins and their annotated locations for NP_443100.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
      Source sequence(s)
      BC053881, BM544492, BU172537
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q969P0
      Related
      ENSP00000316664.7, OTTHUMP00000025751, ENST00000314485.11, OTTHUMT00000060634
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

      Range
      160091339..160099442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002836.1XP_016858325.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q969P0
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain
    2. XM_017002835.1XP_016858324.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q969P0
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain
    3. XM_017002837.1XP_016858326.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q969P0
      Conserved Domains (2) summary
      pfam07686
      Location:28149
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:318419
      Ig; Immunoglobulin domain
    4. XM_024450945.1XP_024306713.1  immunoglobulin superfamily member 8 isoform X2

      Conserved Domains (2) summary
      pfam07686
      Location:11132
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:301402
      Ig; Immunoglobulin domain
    5. XM_006711631.3XP_006711694.1  immunoglobulin superfamily member 8 isoform X2

      Conserved Domains (2) summary
      pfam07686
      Location:11132
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:301402
      Ig; Immunoglobulin domain
    6. XM_024450947.1XP_024306715.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296397
      Ig; Immunoglobulin domain
    7. XM_017002840.2XP_016858329.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296397
      Ig; Immunoglobulin domain
    8. XM_017002839.1XP_016858328.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296397
      Ig; Immunoglobulin domain
    9. XM_017002838.1XP_016858327.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296397
      Ig; Immunoglobulin domain
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