CA10 Gene: Carbonic Anhydrase 10
A comprehensive resource on CA10 gene function, expression, and clinical significance
Gene Information Card
| Symbol | CA10 |
|---|---|
| Full Name | Carbonic anhydrase 10 |
| Gene Type | protein-coding |
| Chromosomal Location | 17q21.2 |
| NCBI Gene ID | 56934 ncbi.nlm.nih.gov/gene/56934 |
| Ensembl ID | ENSG00000108515 |
| UniProt ID | Q9NS85 |
| OMIM ID | 604642 |
| HGNC ID | 1368 |
| Aliases | CA-RP X, CA10_HUMAN, carbonic anhydrase-related protein 10 |
Description
CA10 (carbonic anhydrase 10) is a protein-coding gene located on chromosome 17q21.2. It encodes a member of the carbonic anhydrase family, but lacks catalytic activity due to the absence of key histidine residues required for zinc binding. The protein is predominantly expressed in the brain and is involved in neuronal development and function. CA10 has been implicated in various neurological disorders and cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered CA10 expression may affect neuronal signaling and synaptic plasticity, contributing to disease pathology. | NCBI Gene, OMIM |
| Bipolar disorder | Differential expression of CA10 in brain regions associated with mood regulation suggests a role in bipolar disorder. | NCBI Gene, OMIM |
| Colorectal cancer | CA10 overexpression in colorectal tumors may promote cell proliferation and metastasis through unknown mechanisms. | COSMIC, NCBI Gene |
| Lung cancer | CA10 expression changes observed in lung cancer tissues, potentially influencing tumor growth. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Testis | 4.1 | Medium |
| Lung | 1.2 | Low |
| Colon | 0.8 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression in neuronal cell line |
| U-87 MG (glioblastoma) | 12.8 | High expression in glioma cells |
| A549 (lung carcinoma) | 2.1 | Low expression |
| HCT116 (colorectal carcinoma) | 1.5 | Low expression |
| HEK293 (embryonic kidney) | 0.5 | Not detected |
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, predicted loss of function |
| c.100G>A (p.Gly34Arg) | missense | <0.01% | Unknown effect, rare variant |
| c.200C>T (p.Thr67Ile) | missense | <0.01% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC for CA10.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Carbonic anhydrase family (Reactome: R-HSA-1475029)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
The CA10 protein (UniProt Q9NS85) is a 328-amino acid carbonic anhydrase-related protein lacking catalytic activity. It is localized to the plasma membrane and cytoplasm, with highest expression in the brain. The protein is involved in axon guidance and nervous system development. Its structure includes a carbonic anhydrase domain but lacks the zinc-binding histidine residues essential for enzymatic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CA10 Knockout HEK293 Cell Line | EDJ-KQ4179 | Human | 56934 | Details Get a Quote |
| ABCA10 Knockout HEK293 Cell Line | EDJ-KQ7017 | Human | 10349 | Details Get a Quote |
| ABCA10 Knockout HeLa Cell Line | EDJ-KQ55388 | Human | 10349 | Details Get a Quote |
| CA10 Knockout HeLa Cell Line | EDJ-KQ56769 | Human | 56934 | Details Get a Quote |
| ABCA10 Knockout A-549 Cell Line | EDJ-KQ63868 | Human | 10349 | Details Get a Quote |
| CA10 Knockout A-549 Cell Line | EDJ-KQ65272 | Human | 56934 | Details Get a Quote |
| ABCA10 Knockout HCT 116 Cell Line | EDJ-KQ72326 | Human | 10349 | Details Get a Quote |
| CA10 Knockout HCT 116 Cell Line | EDJ-KQ73715 | Human | 56934 | Details Get a Quote |
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