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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
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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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