CA10

Chr 17

carbonic anhydrase 10 (inactive)

Also known as: CA-RPX, CARPX, HUCEP-15

NCBI Gene: 56934UniProt: Q9NS85

This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

0
Active trials
52
ClinVar variants
11
Pathogenic / LP
1.1
Missense Z
0.46
LOEUF
6
Pubs (2 yr)
Clinical Summary— CA10
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.57) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
11 Pathogenic / Likely Pathogenic· 40 VUS of 52 total submissions
Some data sources returned errors (1)

ensembl: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.46LOEUF
pLI 0.567
Z-score 3.30
OE 0.20 (0.10–0.46)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.11Z-score
OE missense 0.77 (0.67–0.89)
144 obs / 186.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.20 (0.10–0.46)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.77 (0.67–0.89)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.98
0≤1.21.6
LoF obs/exp: 4 / 19.9Missense obs/exp: 144 / 186.7Syn Z: 0.12

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic1
VUS40
Likely Benign1
10
Pathogenic
1
Likely Pathogenic
40
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
1
0
1
VUS
0
37
3
0
40
Likely Benign
0
0
1
0
1
Benign
0
0
0
0
0
Total03715052

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CA10 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
CA10 and CA11 negatively regulate neuronal activity-dependent growth of gliomas.
Tao B et al.·Mol Oncol
2019
Proteomic networks and related genetic variants associated with smoking and chronic obstructive pulmonary disease.
Konigsberg IR et al.·BMC Genomics
2024
Potential drug targets for ovarian cancer identified through Mendelian randomization and colocalization analysis.
Liu S et al.·J Ovarian Res
2025
A tumor-associated heparan sulfate-related glycosaminoglycan promotes the generation of functional regulatory T cells.
Martín-Cruz L et al.·Cell Mol Immunol
2023Functional
Synthetic Hydroxyapatite as a Biomimetic Oral Care Agent.
Enax J et al.·Oral Health Prev Dent
2018Review
Epidemiology of hand, foot and mouth disease and genomic surveillance of coxsackievirus A10 circulating in Zhejiang Province, China during 2017 to 2022.
Sun Y et al.·J Clin Virol
2023
Pharmacogenomics of intravenous immunoglobulin response in Kawasaki disease.
Shrestha S et al.·Front Immunol
2024
Clinical and molecular characterization of hand-foot-and-mouth disease in Thailand, 2008-2009.
Chatproedprai S et al.·Jpn J Infect Dis
2010
Polymorphisms in recent GWA identified asthma genes CA10, SGK493, and CTNNA3 are associated with disease severity and treatment response in childhood asthma.
Perin P et al.·Immunogenetics
2014
Genome-wide DNA methylation profiling identifies two novel genes in cervical neoplasia.
El-Zein M et al.·Int J Cancer
2020
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Janus membrane with asymmetric wettability for efficient oil/water separation
Tian B et al.·Heliyon
2023
Non-invasive regional cerebral blood flow quantification in the 123I-IMP autoradiography using artificial neural network
Kaga T et al.·PLoS One
2023
Study of biomethanol as sustainable replacement of Autogas at variable ignition timing
Pandey JK et al.·Heliyon
2022
Thermoluminescence dosimeter (TLD) studies of Ca10 K(PO4 )7 :Dy phosphor for applications in radiation dosimetry.
Chand S et al.·Luminescence
2023
Exploring Multifunctional Response of Ca10(PO4)6(OH)2-K0.5Na0.5NbO3 Ceramic Composite for Biomedical Applications.
Pandey S et al.·ACS Biomater Sci Eng
2023Functional
Variable Range Hopping in SrTiO3-Ca10(PO4)6(OH)2 Bio-Ceramic Composites
Das A et al.·ACS Omega
2021
Influence of Terbium Ions and Their Concentration on the Photoluminescence Properties of Hydroxyapatite for Biomedical Applications
Paduraru AV et al.·Nanomaterials (Basel)
2021
Effect of Citric Acid on Swelling Resistance and Physicochemical Properties of Post-Crosslinked Electrospun Polyvinyl Alcohol Fibrous Membrane
Huang SM et al.·Polymers (Basel)
2023
Top 8 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients