CA2 (carbonic anhydrase 2)

2007-02-01  

Identity

HGNC
CA2
LOCATION
8q21.2
LOCUSID
760
ALIAS
CA-II,CAC,CAII,Car2,HEL-76,HEL-S-282
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 760
MIM: 611492
HGNC: 1373
Ensembl: ENSG00000104267

Variants:

dbSNP: 760
ClinVar: 760
TCGA: ENSG00000104267
COSMIC: CA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104267ENST00000285379P00918
ENSG00000104267ENST00000285379V9HW21
ENSG00000104267ENST00000520127E5RID5
ENSG00000104267ENST00000522742E5RK37

Expression (GTEx)

0
50
100
150
200
250
300
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
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Collecting duct acid secretionKEGGko04966
Collecting duct acid secretionKEGGhsa04966
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
MetabolismREACTOMER-HSA-1430728
O2/CO2 exchange in erythrocytesREACTOMER-HSA-1480926
Erythrocytes take up carbon dioxide and release oxygenREACTOMER-HSA-1237044
Erythrocytes take up oxygen and release carbon dioxideREACTOMER-HSA-1247673
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
384115502024XFEL structure of carbonic anhydrase II: a comparative study of XFEL, NMR, X-ray and neutron structures.0
385206522024(1)H, (15)N and(13)C resonance assignments of S2A mutant of human carbonic anhydrase II.0
384115502024XFEL structure of carbonic anhydrase II: a comparative study of XFEL, NMR, X-ray and neutron structures.0
385206522024(1)H, (15)N and(13)C resonance assignments of S2A mutant of human carbonic anhydrase II.0
367099142023Carbonic anhydrase II deficiency.4
378951852023Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms.3
367099142023Carbonic anhydrase II deficiency.4
378951852023Unlocking the Potential of the CA2, CA7, and ITM2C Gene Signatures for the Early Detection of Colorectal Cancer: A Comprehensive Analysis of RNA-Seq Data by Utilizing Machine Learning Algorithms.3
354776862022Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.7
354776862022Carbon Dioxide Sensing by Immune Cells Occurs through Carbonic Anhydrase 2-Dependent Changes in Intracellular pH.7
335554972021A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.3
336626302021Quantitative Secretome Analysis Reveals Clinical Values of Carbonic Anhydrase II in Hepatocellular Carcinoma.2
346362832021Carbonic Anhydrases II and IX in Non-ampullary Duodenal Adenomas and Adenocarcinoma.3
350164062021Carbonic anhydrase 2 and 3 as risk biomarkers for dilated cardiomyopathy associated heart failure.10
335554972021A novel homozygous nonsense mutation in the CA2 gene (c.368G>A, p.W123X) linked to carbonic anhydrase II deficiency syndrome in a Chinese family.3

Citation

Dessen P

CA2 (carbonic anhydrase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46552/js/img/welcome