TSPAN12 - tetraspanin 12 Gene

Also Known as EVR5; NET2; NET-2; TM4SF12

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23554

About TSPAN12

Cytogenetic location: 7q31.31 Genomic coordinates (GRCh38): 7:120,787,320-120,858,335 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues, 32 paralogues and is associated with 2 phenotypes. Broad expression in kidney (RPKM 32.8), adrenal (RPKM 28.5) and 21 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. [provided by RefSeq, Jul 2008]

TSPAN12 Products (1)

mRNA Protein Name
NM_012338.4 NP_036470.1 tetraspanin-12
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
19587294 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

TSPAN12 Protein Structure

Tetraspannin

Tetraspannin: Tetraspanin family (9 - 244)

  • 0
  • 100
  • 200
  • 305 a.a.
Protein Preferred Names Protein Names

tetraspanin-12

  • tetraspan NET-2

TSPAN12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
TSPAN12 O95859 TMEM182 Homo sapiens Q6ZP80 32296183
Intra
TSPAN12 O95859 NINJ2 Homo sapiens Q9NZG7 32296183
Intra
TSPAN12 O95859 MARCHF2 Homo sapiens Q9P0N8 32296183
Intra
TSPAN12 O95859 TEX264 Homo sapiens Q9Y6I9 32296183
Intra
TSPAN12 O95859 CTXN3 Homo sapiens Q4LDR2 32296183
Intra
TSPAN12 O95859 ADAM10 Homo sapiens O14672 19587294
Intra
TSPAN12 O95859 ADAM10 Homo sapiens O14672 19587294
Intra
TSPAN12 O95859 O14672-PRO_0000029067 Homo sapiens O14672-PRO_0000029067 19587294
Intra
TSPAN12 O95859 RNF152 Homo sapiens Q8N8N0 32296183
Intra
TSPAN12 O95859 CYBC1 Homo sapiens Q9BQA9 32296183
Intra
TSPAN12 O95859 TMEM140 Homo sapiens Q9NV12 32296183
Intra
TSPAN12 O95859 PMP22 Homo sapiens Q01453 32296183
Intra
TSPAN12 O95859 TMEM147 Homo sapiens Q9BVK8 32296183
Intra
TSPAN12 O95859 EMP3 Homo sapiens P54852 32296183
Intra
TSPAN12 O95859 RFT1 Homo sapiens Q96AA3 32296183
Intra
TSPAN12 O95859 IGFBP5 Homo sapiens P24593 32296183
Intra
TSPAN12 O95859 STX8 Homo sapiens Q9UNK0 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Exudative Vitreoretinopathy 5
  • EVR5

  • Vitreoretinopathy, Exudative 5

  • Vitreoretinopathy, Exudative, Type 5

Vitreoretinopathy
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
  • PHPVAR

  • Retinal Nonattachment, Nonsyndromic Congenital

  • Rnanc

  • Persistent Fetal Vasculature

  • Retinal Nonattachment And Falciform Detachment

  • Congenital Non-Syndromic Retinal Non-Attachment

  • Ncrna

  • Retinal Detachment Congenital

  • Retinal Non-Attachment And Falciform Detachment

  • Vitreous, Primary, Hyperplastic, Persistent, Autosomal Recessive

Vitreoretinal Degeneration
Norrie Disease
  • Atrophia Bulborum Hereditaria

  • Episkopi Blindness

  • Pseudoglioma

  • ND

  • Norrie-Warburg Disease

  • Anderson-Warburg Syndrome

  • Fetal Iritis Syndrome

  • Norrie Syndrome

  • Norrie-Warburg Syndrome

  • Ndp

  • Congenital Progressive Oculo-Acoustico-Cerebral Degeneration

  • Norrie'S Disease

  • Oligophrenia Microphthalmus

  • Pseudoglioma Congenita

  • Whitnall-Norman Syndrome

Exudative Vitreoretinopathy
  • Familial Exudative Vitreoretinopathy

  • Fevr

  • Criswick-Schepens Syndrome

  • Exudative Vitreoretinopathy, Familial

  • Vitreoretinopathy, Exudative )

  • Exudative Vitreoretinopathy 1

Retinal Detachment
  • Retinal Detachments

  • Rhegmatogenous Retinal Detachment

  • Ruptured Retina With Detachment

  • Retinal Hole With Detachment

Leukocoria
  • Leucocoria

Retinal Telangiectasia
Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

Exudative Vitreoretinopathy 1
  • Retinopathy Of Prematurity

  • Retrolental Fibroplasia

  • EVR1

  • Criswick-Schepens Syndrome

  • Rop

  • Exudative Vitreoretinopathy, Familial, Autosomal Dominant

  • Fevr, Autosomal Dominant

  • Premature Retinopathy

  • Vitreoretinopathy, Exudative 1

  • Autosomal Dominant Familial Exudative Vitreoretinopathy

  • Fevr

  • Vitreoretinopathy, Exudative, Type 1

  • Retinopathy Of Prematurity Nos

  • Rlf- [Retrolental Fibroplasia]

  • Rop - [Retinopathy Of Prematurity]

  • Terry Syndrome

Persistent Hyperplastic Primary Vitreous
  • Congenital Retinal Detachment

  • Ncrna Disease

  • Non-Syndromic Congenital Retinal Non-Attachment

  • Pfvs

  • Phpv

  • Persistent Fetal Vasculature Syndrome

Coats Disease
  • Exudative Retinopathy

  • Retinal Telangiectasis

  • Coats' Disease

  • Leber Miliary Aneurysm

  • Coats' Syndrome

  • Congenital Retinal Telangiectasia

Peripheral Retinal Degeneration
  • Peripheral Degeneration Of Retina

  • Degeneration Of Retina Nos

  • Reticular Retinal Degeneration

  • Retinal Degeneration

Hypotropia
Retinal Vascular Disease
  • Retinal Vascular

  • Retinal Vascular Disorder

  • Retina Circulation Disorder

Vitreoretinal Dystrophy
  • Vitreoretinal Dystrophies

Strabismus
  • Strabismus, Susceptibility To

  • Strabismus, Susceptibility To, 1

  • Strabismus 1

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Mus musculus TSPAN12 MGD MGI:1889818
Macaca mulatta TSPAN12 VGNC VGNC:79328
Rattus norvegicus TSPAN12 RGD RGD:1311102
Felis catus TSPAN12 VGNC VGNC:66626
Bos taurus TSPAN12 VGNC VGNC:36427
Canis familiaris TSPAN12 VGNC VGNC:47912
Others TSPAN12 NCBI