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

    Gene ID: 93185, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:17813
    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
    mouse all
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    Genomic context

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    See IGSF8 in Genome Data Viewer
    Location:
    1q23.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (160091339..160099468, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159228416..159236545, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160061129..160068618, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 2622 Neighboring gene potassium inwardly rectifying channel subfamily J member 10 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_419 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1457 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160054388-160054918 Neighboring gene potassium inwardly rectifying channel subfamily J member 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066015-160066541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160066542-160067070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160067071-160067597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160070686-160071186 Neighboring gene Sharpr-MPRA regulatory region 5459 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160079539-160080060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160081809-160082428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160082429-160083048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160083669-160084287 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160085040-160085823 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 Neighboring gene ATPase Na+/K+ transporting subunit alpha 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1914 Neighboring gene ATPase Na+/K+ transporting subunit alpha 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:160135860-160136392 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:160138857-160139851 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876

    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 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. EWI2 and its relatives in Tetraspanin-enriched membrane domains regulate malignancy. Ding Y, et al. Oncogene, 2023 Mar. PMID 36788350
    2. EWI-2 negatively regulates TGF-β signaling leading to altered melanoma growth and metastasis. Wang HX, et al. Cell Res, 2015 Mar. PMID 25656846, Free PMC Article
    3. EWI-2 is a new component of the tetraspanin web in hepatocytes and lymphoid cells. Charrin S, et al. Biochem J, 2003 Jul 15. PMID 12708969, Free PMC Article
    4. Glioblastoma inhibition by cell surface immunoglobulin protein EWI-2, in vitro and in vivo. Kolesnikova TV, et al. Neoplasia, 2009 Jan. PMID 19107234, Free PMC Article
    5. EWI2 promotes endolysosome-mediated turnover of growth factor receptors and integrins to suppress lung cancer. Wang J, et al. Cancer Lett, 2022 Jun 28. PMID 35339615, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IGSF8 is an innate immune checkpoint and cancer immunotherapy target.
      Title: IGSF8 is an innate immune checkpoint and cancer immunotherapy target.
    2. EWI2 and its relatives in Tetraspanin-enriched membrane domains regulate malignancy.
      Title: EWI2 and its relatives in Tetraspanin-enriched membrane domains regulate malignancy.
    3. EWI2 prevents EGFR from clustering and endocytosis to reduce tumor cell movement and proliferation.
      Title: EWI2 prevents EGFR from clustering and endocytosis to reduce tumor cell movement and proliferation.
    4. EWI2 promotes endolysosome-mediated turnover of growth factor receptors and integrins to suppress lung cancer.
      Title: EWI2 promotes endolysosome-mediated turnover of growth factor receptors and integrins to suppress lung cancer.
    5. EWI-2 controls nucleocytoplasmic shuttling of EGFR signaling molecules and miRNA sorting in exosomes to inhibit prostate cancer cell metastasis.
      Title: EWI-2 controls nucleocytoplasmic shuttling of EGFR signaling molecules and miRNA sorting in exosomes to inhibit prostate cancer cell metastasis.
    6. EWI-2 Inhibits Cell-Cell Fusion at the HIV-1 Virological Presynapse.
      Title: EWI-2 Inhibits Cell-Cell Fusion at the HIV-1 Virological Presynapse.
    7. EWI-2 negatively regulates TGF-beta signaling and its downstream events including cytostasis (in vitro and in vivo), EMT-like changes, cell migration, CD271-dependent invasion, and lung metastasis (in vivo).
      Title: EWI-2 negatively regulates TGF-β signaling leading to altered melanoma growth and metastasis.
    8. Authors demonstrated that EWI-2wint promotes CD81 clustering and confinement in CD81-enriched areas.
      Title: EWI-2wint promotes CD81 clustering that abrogates Hepatitis C Virus entry.
    9. The EWI-2/alpha-actinin complex is involved in regulation of the actin cytoskeleton at T cell immune and virological synapses, providing a link between membrane microdomains and the formation of polarized membrane structures involved in T cell recognition.
      Title: EWI-2 association with α-actinin regulates T cell immune synapses and HIV viral infection.
    10. A protein encoded by this locus was found to be differentially expressed in postmortem brains from patients with atypical frontotemporal lobar degeneration.
      Title: Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.
    Submit: New GeneRIF Correction See all GeneRIFs (18)

    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

    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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    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables signaling receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell motility NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in nervous system development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in single fertilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in skeletal muscle tissue development NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in plasma membrane IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in presynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    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

    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

    1. NG_030031.1 RefSeqGene

      Range
      5210..12486
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001193594.1

      Status: REVIEWED

      Source sequence(s)
      AK308115, AL121987, BU172537
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Related
      ENSP00000477565.1, ENST00000614243.4
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    2. NM_001320247.2 → NP_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
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Related
      ENSP00000357065.1, ENST00000368086.5
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    3. NM_052868.6 → NP_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
      Consensus CDS
      CCDS1195.1
      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Related
      ENSP00000316664.7, ENST00000314485.12
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      160091339..160099468 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017002836.2 → XP_016858325.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    2. XM_017002835.2 → XP_016858324.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    3. XM_024450947.2 → XP_024306715.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6 → 127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296 → 397
      Ig; Immunoglobulin domain

    4. XM_017002839.2 → XP_016858328.1  immunoglobulin superfamily member 8 isoform X3

      Conserved Domains (2) summary
      pfam07686
      Location:6 → 127
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:296 → 397
      Ig; Immunoglobulin domain

    5. XM_047434554.1 → XP_047290510.1  immunoglobulin superfamily member 8 isoform X3

    6. XM_024450945.2 → XP_024306713.1  immunoglobulin superfamily member 8 isoform X2

      Conserved Domains (2) summary
      pfam07686
      Location:11 → 132
      V-set; Immunoglobulin V-set domain
      cl11960
      Location:301 → 402
      Ig; Immunoglobulin domain

    7. XM_017002837.2 → XP_016858326.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9
      Conserved Domains (3) summary
      pfam07686
      Location:28 → 149
      V-set; Immunoglobulin V-set domain
      cd00096
      Location:456 → 464
      Ig; Ig strand B [structural motif]
      cl11960
      Location:451 → 545
      Ig; Immunoglobulin domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      159228416..159236545 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339647.1 → XP_054195622.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9

    2. XM_054339646.1 → XP_054195621.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9

    3. XM_054339649.1 → XP_054195624.1  immunoglobulin superfamily member 8 isoform X2

    4. XM_054339653.1 → XP_054195628.1  immunoglobulin superfamily member 8 isoform X3

    5. XM_054339652.1 → XP_054195627.1  immunoglobulin superfamily member 8 isoform X3

    6. XM_054339651.1 → XP_054195626.1  immunoglobulin superfamily member 8 isoform X3

    7. XM_054339648.1 → XP_054195623.1  immunoglobulin superfamily member 8 isoform X1

      UniProtKB/Swiss-Prot
      Q8NG09, Q969P0, Q96DP4, Q9BTG9

    8. XM_054339650.1 → XP_054195625.1  immunoglobulin superfamily member 8 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q969P0.1 GenPept UniProtKB/Swiss-Prot:Q969P0

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