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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
62
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BDV syndrome Pathogenic rs1298858763, rs1317332155, rs1579283609, rs768504422 RCV001418305
RCV001762730
RCV001766669
RCV001815013
Blakemore-Durmaz-Vasileiou (BDV) syndrome Pathogenic rs1317332155 RCV001579305
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CPE-related disorder Uncertain significance; Benign; Likely benign rs141075309, rs568666068, rs145229675, rs59371445, rs144687736, rs148489430, rs762963410, rs140738622, rs376055726, rs758176349, rs1451976804, rs374345764, rs202238519, rs202048102, rs896963496
View all (37 more)
RCV003416552
RCV004749818
RCV004749799
RCV003978494
RCV003933488
RCV003933498
RCV004749868
RCV003913764
RCV003936536
RCV003409959
RCV003410184
RCV004750334
RCV003906621
RCV003427704
RCV003397018
RCV003420777
RCV003420799
RCV003406128
RCV003408694
RCV003427872
RCV003412377
RCV003408537
RCV003421136
RCV003404410
RCV003394335
RCV003420953
RCV003966408
RCV003939061
RCV003980982
RCV003919366
RCV003896729
RCV003907171
RCV003929807
RCV003981528
RCV003893803
RCV003894199
RCV003902291
RCV003894402
RCV003894442
RCV003904575
RCV003981398
RCV003964574
RCV003901691
RCV003913925
RCV003942052
RCV003982171
RCV003957342
RCV003969501
RCV003969070
RCV003966997
RCV004750459
RCV003983237
Associations from Text MiningDisease associations identified through Pubtator
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