MAN2C1

Chr 15q24.2

mannosidase alpha class 2C member 1

MANE:: ENST00000267978.10

OMIM: 154580 ↗NCBI: 4123 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MAN2C1 · Q9NTJ4

v62025-08-01

Predicted Aligned Error matrix for MAN2C1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

94.5/ 100

Very high

1,040 residues

Confidence breakdown

Very high(≥ 90)90%
Confident(70–90)6%
Low(50–70)3%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
Unknown

Disease associations (Open Targets)

congenital disorder of deglycosylation 2
0.64
complex neurodevelopmental disorder
0.37
frozen shoulder
0.23
type 2 diabetes mellitus
0.15
breast carcinoma
0.12
hypogonadotropic hypogonadism 27 without anosmia
0.12
diabetes mellitus
0.07
metabolic dysfunction-associated steatotic liver disease
0.06
genetic developmental and epileptic encephalopathy
0.06
CADASIL
0.05

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

Protein function (UniProt)

Alpha-mannosidase 2C1

Cleaves alpha 1,2-, alpha 1,3-, and alpha 1,6-linked mannose residues on cytoplasmic free oligosaccharides generated by N-glycoprotein degradation pathways