CA8 - carbonic anhydrase 8 Gene
Also Known as CALS; CARP; CA-RP; CAMRQ3; CA-VIII
Species: Homo sapiens
About CA8
This gene has 4 transcripts (splice variants), 222 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 2.4), placenta (RPKM 2.4) and 20 other tissues.
Summary
The protein encoded by this gene was initially named CA-related protein because of sequence similarity to Other known Carbonic Anhydrase genes. However, the gene product lacks Carbonic Anhydrase activity (i.e., the reversible hydration of carbon dioxide). The gene product continues to carry a Carbonic Anhydrase designation based on clear sequence identity to Other members of the Carbonic Anhydrase gene family. The absence of CA8 gene transcription in the cerebellum of the lurcher mutant in mice with a neurologic defect suggests an important role for this acatalytic form. Mutations in this gene are associated with cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3). Polymorphisms in this gene are associated with osteoporosis, and overexpression of this gene in osteosarcoma cells suggests an oncogenic role. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
CA8 Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001321837.2 | NP_001308766.1 | carbonic anhydrase-related protein isoform a |
| NM_001321838.2 | NP_001308767.1 | carbonic anhydrase-related protein isoform b |
| NM_001321839.2 | NP_001308768.1 | carbonic anhydrase-related protein isoform c |
| NM_001412131.1 | NP_001399060.1 | carbonic anhydrase-related protein isoform d |
| NM_004056.6 | NP_004047.3 | carbonic anhydrase-related protein isoform a |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
CA8 Protein Structure
Carb_anhydrase: Eukaryotic-type carbonic anhydrase (29 - 289)
- 0
- 100
- 200
- 290 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
carbonic anhydrase-related protein |
|
CA8 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CA8 | P35219 | INTS7 | Homo sapiens | Q9NVH2 | 25910212 | |
|
Intra
|
CA8 | P35219 | INTS7 | Homo sapiens | Q9NVH2 | 25910212 | |
|
Intra
|
CA8 | P35219 | INTS7 | Homo sapiens | Q9NVH2 | 25910212 | |
|
Intra
|
CA8 | P35219 | KLHL8 | Homo sapiens | Q9P2G9-2 | 32296183 | |
|
Intra
|
CA8 | P35219 | KLHL8 | Homo sapiens | Q9P2G9-2 | 32296183 | |
|
Intra
|
CA8 | P35219 | KLHL8 | Homo sapiens | Q9P2G9-2 | 32296183 | |
|
Intra
|
CA8 | P35219 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
CA8 | P35219 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
CA8 | P35219 | LMNB2 | Homo sapiens | Q03252 | 32296183 | |
|
Intra
|
CA8 | P35219 | RAB34 | Homo sapiens | Q9BZG1 | 25910212 | |
|
Intra
|
CA8 | P35219 | RAB34 | Homo sapiens | Q9BZG1 | 25910212 | |
|
Intra
|
CA8 | P35219 | RAB34 | Homo sapiens | Q9BZG1 | 25910212 | |
|
Intra
|
CA8 | P35219 | TBX3 | Homo sapiens | O15119 | 25416956 | |
|
Intra
|
CA8 | P35219 | GGA2 | Homo sapiens | Q9UJY4 | 25910212 | |
|
Intra
|
CA8 | P35219 | GGA2 | Homo sapiens | Q9UJY4 | 25910212 | |
|
Intra
|
CA8 | P35219 | GGA2 | Homo sapiens | Q9UJY4 | 25910212 | |
|
Intra
|
CA8 | P35219 | GGA2 | Homo sapiens | Q9UJY4 | 25416956 | |
|
Intra
|
CA8 | P35219 | GGA2 | Homo sapiens | Q9UJY4 | 25416956 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25416956 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25910212 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25416956 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25910212 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25910212 | |
|
Intra
|
CA8 | P35219 | SPDL1 | Homo sapiens | Q96EA4 | 25416956 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 32296183 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 32296183 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 25910212 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 25910212 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 25910212 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 25416956 | |
|
Intra
|
CA8 | P35219 | MAGED1 | Homo sapiens | Q9Y5V3 | 32296183 | |
|
Intra
|
CA8 | P35219 | LNX1 | Homo sapiens | Q8TBB1 | 25910212 | |
|
Intra
|
CA8 | P35219 | LNX1 | Homo sapiens | Q8TBB1 | 25910212 | |
|
Intra
|
CA8 | P35219 | LNX1 | Homo sapiens | Q8TBB1 | 25910212 | |
|
Intra
|
CA8 | P35219 | LNX1 | Homo sapiens | Q8TBB1 | 25416956 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 32296183 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 25910212 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 25910212 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 27107012 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 32296183 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 25416956 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 32296183 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 31515488 | |
|
Intra
|
CA8 | P35219 | HSD17B14 | Homo sapiens | Q9BPX1 | 25910212 | |
|
Intra
|
CA8 | P35219 | CRX | Homo sapiens | O43186 | 25910212 | |
|
Intra
|
CA8 | P35219 | CRX | Homo sapiens | O43186 | 25910212 | |
|
Intra
|
CA8 | P35219 | CRX | Homo sapiens | O43186 | 31515488 | |
|
Intra
|
CA8 | P35219 | CRX | Homo sapiens | O43186 | 25416956 | |
|
Intra
|
CA8 | P35219 | CRX | Homo sapiens | O43186 | 25910212 |
Recombinant CA8 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7723 | Carbonic Anhydrase 8 Protein, Human (His) | P35219 (A2-Q290) | ≥ 95%, as determined by reducing SDS-PAGE. |
CA8 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P811051 | Carbonic Anhydrase 8 Antibody | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
|
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
|
| Autosomal Recessive Congenital Cerebellar Ataxia |
|
|
| Spinocerebellar Ataxia 29 |
|
|
| Paraneoplastic Cerebellar Degeneration |
|
|
| Duane Retraction Syndrome |
|
|
| Sulfonamide Allergy |
|
|
| Machado-Joseph Disease |
|
|
| Osteoporosis |
|
|
| Tukel Syndrome |
|
|
| Barber-Say Syndrome |
|
|
| Spinocerebellar Ataxia, X-Linked 1 |
|
|
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
|
| Gillespie Syndrome |
|
|
| Cenani-Lenz Syndactyly Syndrome |
|
|
| Intracranial Hypertension, Idiopathic |
|
|
| X-Linked Cerebellar Ataxia |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | CA8 | VGNC | VGNC:26658 |
| Macaca mulatta | CA8 | VGNC | VGNC:70494 |
| Felis catus | CA8 | VGNC | VGNC:60279 |
| Mus musculus | CA8 | MGD | MGI:88253 |
| Rattus norvegicus | CA8 | RGD | RGD:1304709 |
| Canis familiaris | CA8 | VGNC | VGNC:38616 |
| Others | CA8 | NCBI |