CA13 Gene - Carbonic Anhydrase 13
Comprehensive gene card for CA13, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | CA13 |
|---|---|
| Full Name | Carbonic anhydrase 13 |
| Gene Type | protein-coding |
| Chromosomal Location | 8q21.2 |
| NCBI Gene ID | 377677 ncbi.nlm.nih.gov/gene/377677 |
| Ensembl ID | ENSG00000185049 |
| UniProt ID | Q8N1Q1 |
| OMIM ID | 609843 |
| HGNC ID | 24438 |
| Aliases | CAXIII, CA-XIII |
Description
CA13 encodes carbonic anhydrase XIII, a member of the alpha-carbonic anhydrase family that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons. This enzyme is involved in pH regulation, ion transport, and fluid secretion. CA13 is expressed in several tissues including the gastrointestinal tract, kidney, and reproductive organs.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric cancer | Altered expression may contribute to tumorigenesis via pH modulation. | PMID: 25451967 |
| Renal cell carcinoma | Dysregulation of CA13 expression observed in clear cell RCC. | PMID: 28481369 |
| Sjögren's syndrome | Autoantibodies against CA13 detected in patients. | PMID: 19877009 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Stomach | 9.8 | Medium |
| Duodenum | 8.3 | Medium |
| Colon | 6.7 | Low |
| Prostate | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.1 | High expression |
| A-549 | 8.4 | Medium expression |
| MCF7 | 4.3 | Low expression |
| HepG2 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon |
| c.374C>T (p.Thr125Met) | missense | <0.01% | Unknown significance |
| c.538G>A (p.Gly180Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Metabolism (Reactome: R-HSA-1430728)
• Carbonic anhydrase activity (Reactome: R-HSA-1475029)
Protein Summary
Carbonic anhydrase XIII is a cytosolic enzyme of 262 amino acids (29.5 kDa) that catalyzes the reversible hydration of CO2 to HCO3- and H+. It is highly expressed in the kidney, stomach, and duodenum, where it contributes to acid-base balance and ion transport. The protein contains a zinc-binding active site and is inhibited by sulfonamides such as acetazolamide.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCA13 Knockout HEK293 Cell Line | EDJ-KQ12245 | Human | 154664 | Details Get a Quote |
| CA13 Knockout HEK293 Cell Line | EDJ-KQ12702 | Human | 377677 | Details Get a Quote |
| CA13 Knockout HCT 116 Cell Line | EDJ-KQ41787 | Human | 377677 | Details Get a Quote |
| CA13 Knockout HeLa Cell Line | EDJ-KQ41788 | Human | 377677 | Details Get a Quote |
| ABCA13 Knockout HeLa Cell Line | EDJ-KQ58741 | Human | 154664 | Details Get a Quote |
| ABCA13 Knockout A-549 Cell Line | EDJ-KQ67227 | Human | 154664 | Details Get a Quote |
| CA13 Knockout A-549 Cell Line | EDJ-KQ68401 | Human | 377677 | Details Get a Quote |
| ABCA13 Knockout HCT 116 Cell Line | EDJ-KQ75625 | Human | 154664 | Details Get a Quote |
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