CA11 Gene - Carbonic Anhydrase 11
Comprehensive gene card for CA11, including genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | CA11 |
|---|---|
| Full Name | Carbonic Anhydrase 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 770 ncbi.nlm.nih.gov/gene/770 |
| Ensembl ID | ENSG00000105618 |
| UniProt ID | O75493 |
| OMIM ID | 604814 |
| HGNC ID | 1370 |
| Aliases | CA-RP, CAXI, CARP-2 |
Description
The CA11 gene encodes carbonic anhydrase 11, a member of the carbonic anhydrase family that catalyzes the reversible hydration of carbon dioxide. Unlike most carbonic anhydrases, CA11 lacks catalytic activity due to critical active-site residue substitutions. It is involved in cellular processes such as proliferation and differentiation, and is expressed in various tissues including brain, kidney, and gastrointestinal tract. Altered expression has been reported in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Gastric Cancer | Overexpression of CA11 may promote tumor cell proliferation and invasion. | PubMed: 12384773 |
| Colorectal Cancer | CA11 upregulation associated with poor prognosis and metastasis. | PubMed: 15604267 |
| Breast Cancer | CA11 expression correlates with estrogen receptor status and tumor progression. | PubMed: 16982746 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Stomach | 6.1 | Low |
| Colon | 5.4 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 4.8 | RNA-seq data from GTEx |
| HCT116 (colorectal) | 6.2 | RNA-seq data from GTEx |
| A549 (lung) | 2.1 | RNA-seq data from GTEx |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.200C>T | missense | <0.01% | Unknown |
| c.350G>A | missense | <0.01% | Unknown |
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 for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • carbonate dehydratase activity (GO:0004089) | • zinc ion binding (GO:0008270) |
| • lyase activity (GO:0016829) | • cytoplasm (GO:0005737) |
| • plasma membrane (GO:0005886) |
Pathways
• Metabolism of carbon dioxide (Reactome: R-HSA-1475029)
Protein Summary
Carbonic anhydrase 11 (CA11) is a 328-amino acid protein that belongs to the alpha-carbonic anhydrase family. It contains a zinc-binding domain but lacks catalytic activity due to substitutions in the active site. CA11 is thought to play a role in cell growth regulation and is expressed in several tissues. Its exact physiological function remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA11 Knockout HEK293 Cell Line | EDJ-KQ4182 | Human | 770 | Details Get a Quote |
| CA11 Knockout A-549 Cell Line | EDJ-KQ26626 | Human | 770 | Details Get a Quote |
| CA11 Knockout HCT 116 Cell Line | EDJ-KQ26627 | Human | 770 | Details Get a Quote |
| CA11 Knockout HeLa Cell Line | EDJ-KQ26628 | Human | 770 | Details Get a Quote |
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