TSPAN6 - tetraspanin 6 Gene

Also Known as T245; TM4SF6; TSPAN-6

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 7105

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

Tetraspannin: Tetraspanin family (16 - 237)

  • 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

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
Others TSPAN6 NCBI