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    TSPAN6 tetraspanin 6 [ Homo sapiens (human) ]

    Gene ID: 7105, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TSPAN6provided by HGNC
    Official Full Name
    tetraspanin 6provided by HGNC
    Primary source
    HGNC:HGNC:11858
    See related
    Ensembl:ENSG00000000003 MIM:300191; AllianceGenome:HGNC:11858
    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
    T245; TM4SF6; TSPAN-6
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The protein encoded by this gene is a cell surface glycoprotein and is highly similar in sequence to the transmembrane 4 superfamily member 2 protein. It functions as a negative regulator of retinoic acid-inducible gene I-like receptor-mediated immune signaling via its interaction with the mitochondrial antiviral signaling-centered signalosome. This gene uses alternative polyadenylation sites, and multiple transcript variants result from alternative splicing. [provided by RefSeq, Jul 2013]
    Expression
    Ubiquitous expression in colon (RPKM 15.1), ovary (RPKM 15.0) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See TSPAN6 in Genome Data Viewer
    Location:
    Xq22.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (100627108..100637104, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99069540..99081815, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (99882105..99892101, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373298 Neighboring gene tenomodulin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20914 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:99890767-99891382 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:99891383-99891998 Neighboring gene Sharpr-MPRA regulatory region 6756 Neighboring gene Sharpr-MPRA regulatory region 14263 Neighboring gene sushi repeat containing protein X-linked 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20915 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20916 Neighboring gene synaptotagmin like 4 Neighboring gene Sharpr-MPRA regulatory region 15282 Neighboring gene peptidylprolyl isomerase A pseudogene 89

    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
    • 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. The tetraspanin superfamily: molecular facilitators. Maecker HT, et al. FASEB J, 1997 May. PMID 9194523
    2. Cloning and characterization of a novel human gene, TM4SF6, encoding a protein belonging to the transmembrane 4 superfamily, and mapped to Xq22. Maeda K, et al. Genomics, 1998 Sep 1. PMID 9782095
    3. Tetraspanin proteins as organisers of membrane microdomains and signalling complexes. Yunta M, et al. Cell Signal, 2003 Jun. PMID 12681443
    4. Tetraspanin functions and associated microdomains. Hemler ME. Nat Rev Mol Cell Biol, 2005 Oct. PMID 16314869
    5. Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer. Perot BP, et al. Med Microbiol Immunol, 2020 Aug. PMID 32468130

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
      Title: New insights into the role of tetraspanin 6, 7, and 8 in physiology and pathology.
    2. TSPAN6 reinforces the malignant progression of glioblastoma via interacting with CDK5RAP3 and regulating STAT3 signaling pathway.
      Title: TSPAN6 reinforces the malignant progression of glioblastoma via interacting with CDK5RAP3 and regulating STAT3 signaling pathway.
    3. TSPAN6 is a suppressor of Ras-driven cancer.
      Title: TSPAN6 is a suppressor of Ras-driven cancer.
    4. Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer.
      Title: Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer.
    5. Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
      Title: Tetraspanin 7 and its closest paralog tetraspanin 6: membrane organizers with key functions in brain development, viral infection, innate immunity, diabetes and cancer.
    6. Results shows that TSPAN6 is a crucial player in Amyloid Precursor Protein-C-terminal fragment turnover
      Title: Tetraspanin 6: a pivotal protein of the multiple vesicular body determining exosome release and lysosomal degradation of amyloid precursor protein fragments.
    7. TSPAN6 functions as a negative regulator of the RLR pathway by interacting with MAVS in a ubiquitination-dependent manner.
      Title: Tetraspanin 6 (TSPAN6) negatively regulates retinoic acid-inducible gene I-like receptor-mediated immune signaling in a ubiquitination-dependent manner.
    Submit: New GeneRIF Correction

    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)

    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 
    Process Evidence Code Pubs
    involved_in negative regulation of canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cytoplasmic pattern recognition receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetraspanin-6
    Names
    A15 homolog
    putative NF-kappa-B-activating protein 321
    tetraspan TM4SF
    tetraspanin TM4-D
    transmembrane 4 superfamily member 6

    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_012534.1 RefSeqGene

      Range
      4992..14690
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001278740.2 → NP_001265669.1  tetraspanin-6 isoform b

      See identical proteins and their annotated locations for NP_001265669.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AK309581, AL035608, DA147330, N64145
      Conserved Domains (1) summary
      cd03161
      Location:24 → 121
      TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    2. NM_001278741.1 → NP_001265670.1  tetraspanin-6 isoform b

      See identical proteins and their annotated locations for NP_001265670.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR, lacks a portion of the 5' coding region, and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a. Both variants 2 and 3 encode isoform b.
      Source sequence(s)
      AL035608, BI458635, CX868833, N64145
      Conserved Domains (1) summary
      cd03161
      Location:24 → 121
      TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    3. NM_001278742.1 → NP_001265671.1  tetraspanin-6 isoform c

      See identical proteins and their annotated locations for NP_001265671.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in its 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and lacks an exon that results in an alternate 3' coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus and contains a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AL035608, BI458635, CN274931, N64145
      Conserved Domains (1) summary
      cd03161
      Location:24 → 121
      TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    4. NM_001278743.1 → NP_001265672.1  tetraspanin-6 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in its 5' UTR, lacks a portion of the 5' coding region, uses a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AB097016, AL035608, BI458635, DA038474, N64145
      Consensus CDS
      CCDS76001.1
      UniProtKB/TrEMBL
      A0A087WYV6
      Related
      ENSP00000482130.1, ENST00000612152.4
      Conserved Domains (1) summary
      cl02781
      Location:24 → 107
      tetraspanin_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL). Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment model spans the ...

    5. NM_003270.4 → NP_003261.1  tetraspanin-6 isoform a

      See identical proteins and their annotated locations for NP_003261.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AL035608, AY358825, CX760536, N64145
      Consensus CDS
      CCDS14470.1
      UniProtKB/Swiss-Prot
      O43657, Q54A42, Q6IAN9
      UniProtKB/TrEMBL
      B3KQJ7
      Related
      ENSP00000362111.4, ENST00000373020.9
      Conserved Domains (1) summary
      pfam00335
      Location:17 → 236
      Tetraspannin; Tetraspanin family

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      100627108..100637104 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531018.2 → XP_011529320.1  tetraspanin-6 isoform X1

      See identical proteins and their annotated locations for XP_011529320.1

      Conserved Domains (1) summary
      cd03161
      Location:24 → 121
      TM4SF2_6_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF2_6_like subfamily. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99069540..99081815 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327659.1 → XP_054183634.1  tetraspanin-6 isoform X2

      UniProtKB/TrEMBL
      B3KQJ7

    2. XM_054327660.1 → XP_054183635.1  tetraspanin-6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O43657.1 GenPept UniProtKB/Swiss-Prot:O43657

    Gene LinkOut

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