CA14

Chr 1

carbonic anhydrase 14

Also known as: CAXiV

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
11
Pubs (1 yr)
P/LP submissions
P/LP missense
1.46
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.46LOEUF
pLI 0.000
Z-score -0.13
OE 1.03 (0.741.46)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.95 (0.841.08)
172 obs / 181.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.03 (0.741.46)
00.351.4
Missense OE?0.95 (0.841.08)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 23 / 22.3Missense obs/exp: 172 / 181.1Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CA14 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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