TESPA1 (thymocyte expressed, positive selection associated 1)

2014-11-01  

Identity

HGNC
TESPA1
LOCATION
12q13.2
LOCUSID
9840
ALIAS
HSPC257,ITPRID3,KIAA0748

Other Information

Locus ID:

NCBI: 9840
MIM: 615664
HGNC: 29109
Ensembl: ENSG00000135426

Variants:

dbSNP: 9840
ClinVar: 9840
TCGA: ENSG00000135426
COSMIC: TESPA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135426ENST00000316577A2RU30
ENSG00000135426ENST00000316577A0A024RB73
ENSG00000135426ENST00000449076A2RU30
ENSG00000135426ENST00000449076A0A024RB73
ENSG00000135426ENST00000524622A2RU30
ENSG00000135426ENST00000524622A0A024RB00
ENSG00000135426ENST00000524668E9PHY9
ENSG00000135426ENST00000524923E9PN46
ENSG00000135426ENST00000525978H0YDP3
ENSG00000135426ENST00000526532E9PM24
ENSG00000135426ENST00000528240H0YEX3
ENSG00000135426ENST00000531122A2RU30
ENSG00000135426ENST00000531122A0A024RB00
ENSG00000135426ENST00000532757E9PPW8
ENSG00000135426ENST00000532804A2RU30
ENSG00000135426ENST00000532804A0A024RB00
ENSG00000135426ENST00000533446E9PIN8
ENSG00000135426ENST00000533607E9PIT9

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
235011032013Tespa1 is a novel component of mitochondria-associated endoplasmic reticulum membranes and affects mitochondrial calcium flux.11
285984202017Tespa1 regulates T cell receptor-induced calcium signals by recruiting inositol 1,4,5-trisphosphate receptors.5
235415772013Tespa1 protein is phosphorylated in response to store-operated calcium entry.2
257360382015Tespa1 is associated with susceptibility but not severity of rheumatoid arthritis in the Zhejiang Han population in China.1
248935802014Lack of association between TESPA1 gene polymorphisms (rs1801876, rs2171497, rs4758994, and rs997173) and ankylosing spondylitis in a Chinese population.0

Citation

Dessen P

TESPA1 (thymocyte expressed, positive selection associated 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74626/tespa1