Gene Gene information from NCBI Gene database.
Entrez ID 1363
Gene name Carboxypeptidase E
Gene symbol CPE
Synonyms (NCBI Gene)
BDVSCPHIDDHH
Chromosome 4
Chromosome location 4q32.3
Summary This gene encodes a member of the M14 family of metallocarboxypeptidases. The encoded preproprotein is proteolytically processed to generate the mature peptidase. This peripheral membrane protein cleaves C-terminal amino acid residues and is involved in t
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs1579283609 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
334
miRTarBase ID miRNA Experiments Reference
MIRT018916 hsa-miR-335-5p Microarray 18185580
MIRT050834 hsa-miR-17-5p CLASH 23622248
MIRT683778 hsa-miR-5197-5p HITS-CLIP 23313552
MIRT683777 hsa-miR-4695-5p HITS-CLIP 23313552
MIRT683776 hsa-miR-1910-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0003214 Process Cardiac left ventricle morphogenesis IMP 19593212
GO:0004180 Function Carboxypeptidase activity IEA
GO:0004180 Function Carboxypeptidase activity TAS 9019408
GO:0004181 Function Metallocarboxypeptidase activity IBA
GO:0004181 Function Metallocarboxypeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
114855 2303 ENSG00000109472
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16870
Protein name Carboxypeptidase E (CPE) (EC 3.4.17.10) (Carboxypeptidase H) (CPH) (Enkephalin convertase) (Prohormone-processing carboxypeptidase)
Protein function Sorting receptor that directs prohormones to the regulated secretory pathway. Also acts as a prohormone processing enzyme in neuro/endocrine cells, removing dibasic residues from the C-terminal end of peptide hormone precursors after initial end
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00246 Peptidase_M14 59 364 Zinc carboxypeptidase Domain
PF13620 CarboxypepD_reg 375 450 Domain
Sequence
Sequence length 476
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Type I diabetes mellitus  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
BDV syndrome Pathogenic rs1298858763, rs1317332155, rs1579283609, rs768504422 RCV001418305
RCV001762730
RCV001766669
RCV001815013
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Blakemore-Durmaz-Vasileiou (BDV) syndrome Pathogenic rs1317332155 RCV001579305
★★★★☆
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
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE Disgenet
★★☆☆☆
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
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 21061162, 23941827
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31113950 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 21061162
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 28316770 Associate
★☆☆☆☆
Found in Text Mining only
Bile Duct Diseases Bile duct disease Pubtator 40596471 Associate
★☆☆☆☆
Found in Text Mining only
Bone Diseases Metabolic Bone disease Pubtator 32936766 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 35528956 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Embryonal Embryonal carcinoma Pubtator 27803193, 29898407 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26803519, 35328535 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of Endocrine Gland Endocrine Gland cancer BEFREE 21061162
★☆☆☆☆
Found in Text Mining only