CA5B (carbonic anhydrase 5B)

2014-11-01  

Identity

HGNC
CA5B
LOCATION
Xp22.2
LOCUSID
11238
ALIAS
CA-VB,CAVB
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11238
MIM: 300230
HGNC: 1378
Ensembl: ENSG00000169239

Variants:

dbSNP: 11238
ClinVar: 11238
TCGA: ENSG00000169239
COSMIC: CA5B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000169239ENST00000318636Q9Y2D0
ENSG00000169239ENST00000318636A0A024RBW9
ENSG00000169239ENST00000454127Q9Y2D0
ENSG00000169239ENST00000454127A0A024RBW9
ENSG00000169239ENST00000478341H7C4G3
ENSG00000169239ENST00000479740C9JA11
ENSG00000169239ENST00000498004C9IZP3

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
Nitrogen metabolismKEGGko00910
Nitrogen metabolismKEGGhsa00910
MetabolismREACTOMER-HSA-1430728
Reversible hydration of carbon dioxideREACTOMER-HSA-1475029

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
171740922007Carbonic anhydrase activators: an activation study of the human mitochondrial isoforms VA and VB with amino acids and amines.6
269139202016Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis.2

Citation

Dessen P

CA5B (carbonic anhydrase 5B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61343/ca5b