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TSPAN6 tetraspanin 6 [ Homo sapiens (human) ]

Gene ID: 7105, updated on 2-Nov-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 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 Variation Viewer (GRCh37.p13)

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

  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

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