CPE

Chr 4q32.3

carboxypeptidase E

MANE:: ENST00000402744.9

OMIM: 114855 ↗NCBI: 1363 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CPE · P16870

v62025-08-01

Predicted Aligned Error matrix for CPE — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.4/ 100

Very high

476 residues

Confidence breakdown

Very high(≥ 90)83%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)9%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity
BIALLELIC, autosomal or pseudoautosomal
Hypogonadotropic hypogonadism (GMS)
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

BDV syndrome
0.70
hereditary disease
0.41
neurodegenerative disease
0.31
rhabdomyolysis
0.28
eye disorder
0.27
atopic eczema
0.26
idiopathic pulmonary fibrosis
0.25
disorder of ear
0.24
Varicose veins
0.11
Abnormal erythrocyte morphology
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Carboxypeptidase E

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 endoprotease cleavage