Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1363
Gene name Gene Name - the full gene name approved by the HGNC.
Carboxypeptidase E
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CPE
Synonyms (NCBI Gene) Gene synonyms aliases
BDVS, CPH, IDDHH
Disease Acronyms (UniProt) Disease acronyms from UniProt database
BDVS
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q32.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs1579283609 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003214 Process Cardiac left ventricle morphogenesis IMP 19593212
GO:0004180 Function Carboxypeptidase activity TAS 9019408
GO:0004181 Function Metallocarboxypeptidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 32814053
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
114855 2303 ENSG00000109472
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 27935865
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
15358678, 23434795
Unknown
Disease term Disease name Evidence References Source
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abortion Veterinary Associate 12682135
ACTH Secreting Pituitary Adenoma Associate 31319379
Alzheimer Disease Associate 31113950
Autistic Disorder Associate 28316770
Bile Duct Diseases Associate 40596471
Bone Diseases Metabolic Associate 32936766
Carcinogenesis Associate 35528956
Carcinoma Embryonal Associate 27803193, 29898407
Carcinoma Hepatocellular Associate 26803519, 35328535
Clostridium Infections Associate 9431915