TSPAN6 - tetraspanin 6 Gene

Homo sapiens

Also known as T245; TM4SF6; TSPAN-6

Gene ID: 7105 | Gene type: protein coding

About TSPAN6

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:100,627,108-100,637,104 (from NCBI)

This gene has 5 transcripts (splice variants), 211 orthologues and 32 paralogues. Ubiquitous expression in colon (RPKM 15.1), ovary (RPKM 15.0) and 24 other tissues.

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]

TSPAN6 Products(5)

mRNA	Protein	Name
NM_001278740.2	NP_001265669.1	tetraspanin-6 isoform b precursor
NM_001278741.1	NP_001265670.1	tetraspanin-6 isoform b precursor
NM_001278742.1	NP_001265671.1	tetraspanin-6 isoform c precursor
NM_001278743.1	NP_001265672.1	tetraspanin-6 isoform d precursor
NM_003270.4	NP_003261.1	tetraspanin-6 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22908223	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	22908223	GOA
involved in negative regulation of cytoplasmic pattern recognition receptor signaling pathway	IMP IMP: Inferred from mutant phenotype	22908223	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TSPAN6 Protein Structure

Tetraspannin

0
100
200
245 a.a.

Protein Preferred Names

Protein Names

tetraspanin-6

A15 homolog

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 9

Efmr	Epileptic Encephalopathy, Early Infantile, 9
Eiee9	DEE9
Juberg-Hellman Syndrome	Epilepsy, Female-Restricted, With Mental Retardation
Developmental And Epileptic Encephalopathy, 9	Early Infantile Epileptic Encephalopathy 9
Early Infantile Female-Limited Epilecptic Encephalopathy	Female Restricted Epilepsy With Mental Retardation
Juberg Hellman Syndrome	Pcdh19-Related Female-Limited Epilepsy
Epilepsy And Intellectual Disability Limited To Females	Epilepsy, Female Restricted, With Intellectual Disability
Familial Epilepsy And Intellectual Disability Limited To Females	Female Restricted Epilepsy With Intellectual Delays
Pcdh19-Related Fle	Pcdh19-Related Infantile Epileptic Encephalopathy
Female Restricted Epilepsy With Intellectual Disability	Encephalopathy, Epileptic, Early Infantile, Type 9

Malignant Choroid Melanoma

Malignant Melanoma Of Choroid

Melanoma Of The Choroid

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15172	TSPAN6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TSPAN6	VGNC	VGNC:47924
Mus musculus	TSPAN6	MGD	MGI:1926264
Rattus norvegicus	TSPAN6	RGD	RGD:1560160
Felis catus	TSPAN6	VGNC	VGNC:66636
Macaca mulatta	TSPAN6	VGNC	VGNC:78565
Bos taurus	TSPAN6	VGNC	VGNC:36441

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