Entity Details

Primary name CA4
Entity type gene
Source Source Link

Details

PrimaryID762
RefseqGeneNG_012050
SymbolCA4
Namecarbonic anhydrase 4
Chromosome17
Location17q23.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCAH4_HUMAN

GO terms

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GOName
GO:0004089 carbonate dehydratase activity
GO:0005791 rough endoplasmic reticulum
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005802 trans-Golgi network
GO:0005886 plasma membrane
GO:0006730 one-carbon metabolic process
GO:0008270 zinc ion binding
GO:0009986 cell surface
GO:0015701 bicarbonate transport
GO:0016020 membrane
GO:0016324 apical plasma membrane
GO:0016836 hydro-lyase activity
GO:0030658 transport vesicle membrane
GO:0030667 secretory granule membrane
GO:0031362 anchored component of external side of plasma membrane
GO:0031526 brush border membrane
GO:0048471 perinuclear region of cytoplasm
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
600852 OMIMRetinitis pigmentosa 17 (RP17)A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by variants affecting the gene represented in this entry. Defective acid overload removal from retina and retinal epithelium, due to mutant CA4, is responsible for photoreceptor degeneration, indicating that impaired pH homeostasis is the most likely cause underlying the RP17 phenotype.

Interactions

10 interactions

InteractorPartnerSourcesPublicationsLink
CA4PRDX2BioGRID, IntAct21988832 details
CA4PIH1D1BioGRID, IntAct21988832 details
CA4SLC4A4UniProt15563508 details
CA4SLC4A1BioGRID, HPRD11994299 details
CA4WTAPBioGRID26071132 details
CA4SLC4A3HPRD11994299 details
CA4HTTIntAct17500595 details
CA4CD177UniProt21193407 details
CA4TEX101BioGRID, UniProt30097533 details
CA4CDK18BioGRID28514442 details