CRACR2A (calcium release activated channel regulator 2A)

2014-11-01  

Identity

HGNC
CRACR2A
LOCATION
12p13.32
LOCUSID
84766
ALIAS
EFCAB4B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84766
MIM: 614178
HGNC: 28657
Ensembl: ENSG00000130038

Variants:

dbSNP: 84766
ClinVar: 84766
TCGA: ENSG00000130038
COSMIC: CRACR2A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130038ENST00000252322Q9BSW2
ENSG00000130038ENST00000333750H7BXT2
ENSG00000130038ENST00000440314Q9BSW2
ENSG00000130038ENST00000535292H0YFI5

Expression (GTEx)

0
5
10
15
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

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

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
207080052010Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.97
204188712010A novel EF-hand protein, CRACR2A, is a cytosolic Ca2+ sensor that stabilizes CRAC channels in T cells.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
270165262016A large Rab GTPase encoded by CRACR2A is a component of subsynaptic vesicles that transmit T cell activation signals.9
272211602017A large Rab GTPase family in a small GTPase world.6
254757302015Expression of a long variant of CRACR2A that belongs to the Rab GTPase protein family in endothelial cells.5
302847422018A genome-wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population.1
304640202019Vigorous Physical Activity Is Associated with Lower Risk of Metastatic-Lethal Progression in Prostate Cancer and Hypomethylation in the CRACR2A Gene.1
310925582019Rab46 integrates Ca2+ and histamine signaling to regulate selective cargo release from Weibel-Palade bodies.1

Citation

Dessen P

CRACR2A (calcium release activated channel regulator 2A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62075/cracr2a-(calcium-release-activated-channel-regulator-2a)