TSPAN12 (tetraspanin 12)

2012-05-01  

Identity

HGNC
TSPAN12
LOCATION
7q31.31
LOCUSID
23554
ALIAS
EVR5,NET-2,NET2,TM4SF12
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23554
MIM: 613138
HGNC: 21641
Ensembl: ENSG00000106025

Variants:

dbSNP: 23554
ClinVar: 23554
TCGA: ENSG00000106025
COSMIC: TSPAN12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106025ENST00000222747O95859
ENSG00000106025ENST00000222747A0A024R740
ENSG00000106025ENST00000415871O95859
ENSG00000106025ENST00000415871A0A024R740
ENSG00000106025ENST00000424710C9JC05
ENSG00000106025ENST00000430985C9JQM0
ENSG00000106025ENST00000433758C9IZ82
ENSG00000106025ENST00000441017C9J9U1
ENSG00000106025ENST00000450414H7C0X9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
198370332009TSPAN12 regulates retinal vascular development by promoting Norrin- but not Wnt-induced FZD4/beta-catenin signaling.124
201591112010Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.79
201591122010Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.53
194016822010High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.52
216407902011Differential expression of miRNA-146a-regulated inflammatory genes in human primary neural, astroglial and microglial cells.52
195872942009Tetraspanin12 regulates ADAM10-dependent cleavage of amyloid precursor protein.47
224275762012Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).25
239555702014Tetraspanin TSPAN12 regulates tumor growth and metastasis and inhibits β-catenin degradation.24
255125062014TSPAN12 is a critical factor for cancer-fibroblast cell contact-mediated cancer invasion.20
215524752011Novel TSPAN12 mutations in patients with familial exudative vitreoretinopathy and their associated phenotypes.13

Citation

Dessen P

TSPAN12 (tetraspanin 12)

Atlas Genet Cytogenet Oncol Haematol. 2012-05-01

Online version: http://atlasgeneticsoncology.org/gene/52718/tspan12