Identity
HGNC
LOCATION
8q13.2
LOCUSID
ALIAS
CPAH,ETL5,FEB11
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57094
MIM: 609562
HGNC: 17245
Ensembl: ENSG00000165078
Variants:
dbSNP: 57094
ClinVar: 57094
TCGA: ENSG00000165078
COSMIC: CPA6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165078 | ENST00000297770 | Q8N4T0 |
| ENSG00000165078 | ENST00000479862 | Q8N4T0 |
| ENSG00000165078 | ENST00000638254 | Q8N4T0 |
Expression (GTEx)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443890 | Diabetes Mellitus, Type 2 | Disease | ClinicalAnnotation | associated | PD | 29650774 | |
| PA450395 | metformin | Chemical | ClinicalAnnotation | associated | PD | 29650774 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37011707 | 2023 | Carboxypeptidase A6 suppresses the proliferation and invasion of colorectal cancer cells and is negatively regulated by miR-96-3p. | 0 |
| 37011707 | 2023 | Carboxypeptidase A6 suppresses the proliferation and invasion of colorectal cancer cells and is negatively regulated by miR-96-3p. | 0 |
| 32570281 | 2020 | Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis. | 3 |
| 32570281 | 2020 | Carboxypeptidase A6 was identified and validated as a novel potential biomarker for predicting the occurrence of active ulcerative colitis. | 3 |
| 31612389 | 2019 | Carboxypeptidase A6 Promotes the Proliferation and Migration of Hepatocellular Carcinoma by Up-regulating AKT Signaling Pathway. | 2 |
| 31612389 | 2019 | Carboxypeptidase A6 Promotes the Proliferation and Migration of Hepatocellular Carcinoma by Up-regulating AKT Signaling Pathway. | 2 |
| 29650774 | 2018 | Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes. | 25 |
| 29650774 | 2018 | Genetic Variants in CPA6 and PRPF31 Are Associated With Variation in Response to Metformin in Individuals With Type 2 Diabetes. | 25 |
| 25875328 | 2015 | Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy. | 9 |
| 25875328 | 2015 | Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy. | 9 |
| 24290490 | 2014 | Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures. | 14 |
| 24290490 | 2014 | Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures. | 14 |
| 21922598 | 2012 | Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. | 16 |
| 23105115 | 2012 | Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy. | 10 |
| 21922598 | 2012 | Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. | 16 |
Citation
Dessen P
CPA6 (carboxypeptidase A6)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/43944/cpa6-(carboxypeptidase-a6)
