CA7 Gene - Carbonic Anhydrase 7
Comprehensive gene card for CA7, including genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CA7 |
|---|---|
| Full Name | carbonic anhydrase 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 766 ncbi.nlm.nih.gov/gene/766 |
| Ensembl ID | ENSG00000140678 |
| UniProt ID | P43166 |
| OMIM ID | 114860 |
| HGNC ID | 1382 |
| Aliases | CA-VII, CAVII |
Description
The CA7 gene encodes carbonic anhydrase 7, a zinc metalloenzyme that catalyzes the reversible hydration of carbon dioxide to bicarbonate and protons. This enzyme is involved in pH regulation, ion transport, and fluid secretion. CA7 is expressed in various tissues, including the brain, kidney, and gastrointestinal tract, and plays a role in neuronal signaling and acid-base balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carbonic anhydrase deficiency (CA7-related) | Loss-of-function mutations in CA7 impair bicarbonate production, leading to metabolic acidosis and neurological symptoms. | OMIM #114860; ClinVar |
| Intellectual disability | CA7 deficiency disrupts neuronal pH homeostasis and synaptic transmission, contributing to cognitive impairment. | OMIM #114860; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Colon | 6.1 | Low |
| Liver | 2.4 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| HEK293 (embryonic kidney) | 9.7 | High expression |
| Caco-2 (colorectal) | 5.4 | Intestinal epithelial |
| HepG2 (hepatocellular) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.232C>T (p.Arg78Trp) | Missense | Rare | Loss of catalytic activity; associated with CA7 deficiency |
| c.499G>A (p.Gly167Arg) | Missense | Rare | Impaired enzyme function; reported in intellectual disability |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Most reported CA7 mutations are loss-of-function, reducing or abolishing carbonic anhydrase activity, leading to metabolic acidosis and neurological phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CA7.
Dominant Negative (DN)
No dominant-negative effects have been described for CA7 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carbonic anhydrase-mediated bicarbonate transport (Reactome: R-HSA-1475029)
• Metabolism of carbon dioxide (Reactome: R-HSA-1475017)
Protein Summary
Carbonic anhydrase 7 (CA7) is a 259-amino acid zinc metalloenzyme that catalyzes the reversible hydration of CO2 to HCO3- and H+. It is a cytosolic protein expressed in multiple tissues, with highest levels in the brain and kidney. CA7 is essential for pH homeostasis, neuronal excitability, and renal acid-base regulation. Mutations in CA7 cause a rare autosomal recessive disorder characterized by metabolic acidosis, intellectual disability, and developmental delay.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA7 Knockout HEK293 Cell Line | EDJ-KQ4180 | Human | 766 | Details Get a Quote |
| ABCA7 Knockout HEK293 Cell Line | EDJ-KQ7016 | Human | 10347 | Details Get a Quote |
| SPACA7 Knockout HEK293 Cell Line | EDJ-KQ8147 | Human | 122258 | Details Get a Quote |
| CDCA7 Knockout HEK293 Cell Line | EDJ-KQ9916 | Human | 83879 | Details Get a Quote |
| CDCA7L Knockout HEK293 Cell Line | EDJ-KQ12081 | Human | 55536 | Details Get a Quote |
| CDCA7L Knockout A-549 Cell Line | EDJ-KQ41984 | Human | 55536 | Details Get a Quote |
| CDCA7L Knockout HCT 116 Cell Line | EDJ-KQ41986 | Human | 55536 | Details Get a Quote |
| CDCA7L Knockout HeLa Cell Line | EDJ-KQ41987 | Human | 55536 | Details Get a Quote |
| ABCA7 Knockout A-549 Cell Line | EDJ-KQ31756 | Human | 10347 | Details Get a Quote |
| ABCA7 Knockout HCT 116 Cell Line | EDJ-KQ31757 | Human | 10347 | Details Get a Quote |
| ABCA7 Knockout HeLa Cell Line | EDJ-KQ31758 | Human | 10347 | Details Get a Quote |
| CDCA7 Knockout A-549 Cell Line | EDJ-KQ36817 | Human | 83879 | Details Get a Quote |
| CDCA7 Knockout HCT 116 Cell Line | EDJ-KQ36818 | Human | 83879 | Details Get a Quote |
| CDCA7 Knockout HeLa Cell Line | EDJ-KQ36819 | Human | 83879 | Details Get a Quote |
| CA7 Knockout HeLa Cell Line | EDJ-KQ52766 | Human | 766 | Details Get a Quote |
Displaying Records 1 To 15 Of 20 Records
