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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CA4
carbonic anhydrase 4
Chromosome 17 Β· 17q23.1
NCBI Gene: 762Ensembl: ENSG00000167434.11HGNC: HGNC:1375UniProt: P22748
62PubMed Papers
21Diseases
7Drugs
14Pathogenic Variants
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
basolateral plasma membranesecretory granule membranebrush border membraneperinuclear region of cytoplasmretinitis pigmentosaepilepsyaltitude sicknessglaucoma
✦AI Summary

CA4 (carbonic anhydrase 4) is a membrane-associated enzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons, playing a crucial role in pH homeostasis 1. The enzyme is essential for maintaining both intracellular and extracellular pH balance and may stimulate sodium/bicarbonate transporter activity of SLC4A4 in pH regulation 1. CA4 demonstrates particular importance in ocular physiology, where it is essential for acid overload removal from the retina and retinal epithelium, as well as acid release in the choriocapillaris of the choroid 1. The protein localizes to various cellular compartments including plasma membranes, transport vesicles, and secretory granules, with specific enrichment at apical and basolateral surfaces. Clinically, CA4 is associated with retinitis pigmentosa 17, indicating its critical role in retinal function. Beyond its primary enzymatic function, CA4 has emerged as a biomarker in various pathological conditions. In parathyroid carcinoma, CA4 shows differential nuclear expression compared to adenomas, with significantly lower nuclear percentage serving as a potential diagnostic marker 2. The enzyme's expression patterns also show relevance in neurodegenerative diseases, with spatial transcriptomic studies revealing region-specific alterations in Alzheimer's disease hippocampal regions 3.

Sources cited
1
CA4 catalyzes reversible CO2 hydration, maintains pH homeostasis, stimulates SLC4A4 transporter activity, and is essential for retinal acid removal
PMID: 15563508
2
CA4 shows significantly lower nuclear percentage in parathyroid carcinoma compared to adenoma, serving as a potential diagnostic biomarker
PMID: 36995894
3
CA4 expression shows spatial alterations in Alzheimer's disease hippocampal regions based on transcriptomic mapping studies
PMID: 40168986
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
retinitis pigmentosaOpen Targets
0.69Moderate
epilepsyOpen Targets
0.61Moderate
altitude sicknessOpen Targets
0.60Moderate
glaucomaOpen Targets
0.60Moderate
SeizureOpen Targets
0.60Moderate
migraine disorderOpen Targets
0.59Moderate
angle-closure glaucomaOpen Targets
0.59Moderate
edemaOpen Targets
0.59Moderate
alcohol dependenceOpen Targets
0.56Moderate
Lennox-Gastaut syndromeOpen Targets
0.49Moderate
congestive heart failureOpen Targets
0.46Moderate
open-angle glaucomaOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.44Moderate
obesityOpen Targets
0.41Moderate
partial epilepsyOpen Targets
0.38Weak
HeadacheOpen Targets
0.37Weak
duodenal ulcerOpen Targets
0.37Weak
Retinal dystrophyOpen Targets
0.37Weak
bipolar disorderOpen Targets
0.36Weak
cocaine dependenceOpen Targets
0.36Weak
Retinitis pigmentosa 17UniProt
Pathogenic Variants14
NM_000717.5(CA4):c.113-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000717.5(CA4):c.415-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000717.5(CA4):c.656G>A (p.Arg219His)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 219
NM_000717.5(CA4):c.138C>A (p.Cys46Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 46
NM_000717.5(CA4):c.102C>A (p.Tyr34Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 34
NM_000717.5(CA4):c.250C>T (p.Gln84Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 84
NM_000717.5(CA4):c.687C>A (p.Cys229Ter)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 229
NM_000717.5(CA4):c.937T>C (p.Ter313Arg)Likely pathogenic
Retinal dystrophy
β˜…β˜†β˜†β˜†2023β†’ Residue 313
NM_000717.5(CA4):c.513+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_000717.5(CA4):c.415-2_416delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_000717.5(CA4):c.58G>T (p.Glu20Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 20
NM_000717.5(CA4):c.268+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_000717.5(CA4):c.112+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_000717.5(CA4):c.368del (p.Tyr123fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 123
View on ClinVar β†—
Drug Targets7
ACETAZOLAMIDEApproved
Carbonic anhydrase I inhibitor
Seizure
ACETAZOLAMIDE SODIUMApproved
Carbonic anhydrase I inhibitor
angle-closure glaucoma
DICHLORPHENAMIDEApproved
Carbonic anhydrase I inhibitor
ETHOXZOLAMIDEApproved
Carbonic anhydrase inhibitor
METHAZOLAMIDEApproved
Carbonic anhydrase I inhibitor
glaucoma
SULTHIAMEApproved
Carbonic anhydrase inhibitor
epilepsy
TOPIRAMATEApproved
Glutamate receptor ionotropic AMPA antagonist
epilepsy
Related Genes
CYB5RLShared pathway100%CYB5R1Shared pathway100%CYB5R2Shared pathway100%FSCN2Protein interaction85%SLC4A4Protein interaction82%CA3Protein interaction77%
Tissue Expression6 tissues
Lung
100%
Heart
45%
Bone Marrow
16%
Brain
13%
Ovary
6%
Liver
1%
Gene Interaction Network
Click a node to explore
CA4CYB5RLCYB5R1CYB5R2FSCN2SLC4A4CA3
PROTEIN STRUCTURE
Preparing viewer…
PDB3FW3 Β· 1.72 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.51–0.97]
RankingsWhere CA4 stands among ~20K protein-coding genes
  • #7,432of 20,598
    Most Researched62
  • #235of 1,025
    FDA-Approved Drug Targets7 Β· top quartile
  • #2,522of 5,498
    Most Pathogenic Variants14
  • #9,277of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedCA4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular pathways and diagnosis in spatially resolved Alzheimer's hippocampal atlas.
PMID: 40168986
Neuron Β· 2025
1.00
2
Review of Cytotoxic CA4 Analogues that Do Not Target Microtubules: Implications for CA4 Development.
PMID: 27156516
Mini Rev Med Chem Β· 2017
0.90
3
International consensus classification of hippocampal sclerosis in temporal lobe epilepsy: a Task Force report from the ILAE Commission on Diagnostic Methods.
PMID: 23692496
Epilepsia Β· 2013
0.80
4
Combretastatin A4 phosphate.
PMID: 15014350
Anticancer Drugs Β· 2004
0.70
5
Association Between Hippocampal Volumes and Cognition in Cerebral Amyloid Angiopathy.
PMID: 38165326
Neurology Β· 2024
0.60