CA4 (carbonic anhydrase 4)

2014-09-01  

Identity

HGNC
LOCATION
17q23.1
LOCUSID
ALIAS
CAIV,Car4,RP17
FUSION GENES

Other Information

Locus ID:

NCBI: 762
MIM: 114760
HGNC: 1375
Ensembl: ENSG00000167434

Variants:

dbSNP: 762
ClinVar: 762
TCGA: ENSG00000167434
COSMIC: CA4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167434ENST00000300900P22748
ENSG00000167434ENST00000586876P22748
ENSG00000167434ENST00000587265K7EIH9
ENSG00000167434ENST00000590203K7EKY5
ENSG00000167434ENST00000591725K7ENI8

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Nitrogen metabolismKEGGko00910
Nitrogen metabolismKEGGhsa00910
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
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

References

Pubmed IDYearTitleCitations
119942992002The extracellular component of a transport metabolon. Extracellular loop 4 of the human AE1 Cl-/HCO3- exchanger binds carbonic anhydrase IV.46
145676932003Direct extracellular interaction between carbonic anhydrase IV and the human NBC1 sodium/bicarbonate co-transporter.38
150906522004Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa.35
155635082005Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.27
260711322016Carbonic anhydrase IV inhibits colon cancer development by inhibiting the Wnt signalling pathway through targeting the WTAP-WT1-TBL1 axis.27
216807352011Transport activity of the high-affinity monocarboxylate transporter MCT2 is enhanced by extracellular carbonic anhydrase IV but not by intracellular carbonic anhydrase II.25
192118032009Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV.18
243380192014Intracellular and extracellular carbonic anhydrases cooperate non-enzymatically to enhance activity of monocarboxylate transporters.17
176527132007Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.14
178814262008Familial pure proximal renal tubular acidosis--a clinical and genetic study.12

Citation

Dessen P

CA4 (carbonic anhydrase 4)

Atlas Genet Cytogenet Oncol Haematol. 2014-09-01

Online version: http://atlasgeneticsoncology.org/gene/54890/ca4