CABP2 (calcium binding protein 2)

2014-11-01  

Identity

HGNC
CABP2
LOCATION
11q13.2
LOCUSID
51475
ALIAS
DFNB93
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51475
MIM: 607314
HGNC: 1385
Ensembl: ENSG00000167791

Variants:

dbSNP: 51475
ClinVar: 51475
TCGA: ENSG00000167791
COSMIC: CABP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167791ENST00000294288Q9NPB3
ENSG00000167791ENST00000353903Q9NPB3
ENSG00000167791ENST00000545205F5H458
ENSG00000167791ENST00000636477A0A1B0GW24

Expression (GTEx)

0
1
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

References

Pubmed IDYearTitleCitations
229811192012A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment.33

Citation

Dessen P

CABP2 (calcium binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61348/cabp2-(calcium-binding-protein-2)