TSPAN6 tetraspanin 6 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: Xq22.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (100627108..100637104, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (99069540..99081815, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (99882105..99892101, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TSPAN6 is a suppressor of Ras-driven cancer.
Title: TSPAN6 is a suppressor of Ras-driven cancer.
Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer.
Title: Tetraspanin 6 is a regulator of carcinogenesis in colorectal cancer.
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.
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.
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

RH76329 (e-PCR)
- UniSTS:90526

TM4SF6__5271 (e-PCR)
- UniSTS:463325

DXS8329 (e-PCR)
- UniSTS:63967

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 more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
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

NG_012534.1 RefSeqGene

Range

4992..14690

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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 ...
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 ...
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 ...
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

100627108..100637104 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...