Gene Gene information from NCBI Gene database.
Entrez ID 51200
Gene name Carboxypeptidase A4
Gene symbol CPA4
Synonyms (NCBI Gene)
CPA3
Chromosome 7
Chromosome location 7q32.2
Summary This gene is a member of the carboxypeptidase A/B subfamily, and it is located in a cluster with three other family members on chromosome 7. Carboxypeptidases are zinc-containing exopeptidases that catalyze the release of carboxy-terminal amino acids, and
miRNA miRNA information provided by mirtarbase database.
438
miRTarBase ID miRNA Experiments Reference
MIRT027514 hsa-miR-98-5p Microarray 19088304
MIRT029046 hsa-miR-26b-5p Microarray 19088304
MIRT625299 hsa-miR-8485 HITS-CLIP 23313552
MIRT625298 hsa-miR-6715a-3p HITS-CLIP 23313552
MIRT625299 hsa-miR-8485 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IDA 20385563
GO:0004181 Function Metallocarboxypeptidase activity IEA
GO:0004181 Function Metallocarboxypeptidase activity NAS 10383164
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607635 15740 ENSG00000128510
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UI42
Protein name Carboxypeptidase A4 (EC 3.4.17.-) (Carboxypeptidase A3)
Protein function Metalloprotease that cleaves hydrophobic C-terminal residues with a preference for -Phe, -Leu, -Ile, -Met, -Tyr and -Val (PubMed:20385563). May function in peptide hormone and/or neuropeptide catabolism (PubMed:20385563). {ECO:0000269|PubMed:203
PDB 2BO9 , 2BOA , 2PCU , 4A94 , 4BD9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02244 Propep_M14 27 101 Carboxypeptidase activation peptide Domain
PF00246 Peptidase_M14 129 408 Zinc carboxypeptidase Domain
Tissue specificity TISSUE SPECIFICITY: Fetal expression in the adrenal gland, brain, heart, intestine, kidney, liver and lung. Except for fetal brain that shows no imprinting, expression was found preferentially from the maternal allele.
Sequence
Sequence length 421
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CPA4-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31143511
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 20052409, 20451039, 24582314, 30682452
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 20052409, 20451039, 26699720, 28933920, 31903716, 32460303, 32788176, 35550122, 37241840 Associate
★☆☆☆☆
Found in Text Mining only
Blister Blister Pubtator 22991566 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30628666, 30875843
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30628666, 30875843, 33746592, 37684436 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 31397502
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 31279884
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 27780921 Associate
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 29512095
★☆☆☆☆
Found in Text Mining only