NCDN

Chr 1p34.3

neurochondrin

Aliases:: NCDN-1, NCDN-2
MANE:: ENST00000373243.7

OMIM: 608458 ↗NCBI: 23154 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

NCDN · Q9UBB6

v62025-08-01

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

Mean pLDDT

87.6/ 100

Confident

729 residues

Confidence breakdown

Very high(≥ 90)69%
Confident(70–90)21%
Low(50–70)4%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with infantile epileptic spasms
0.67
epilepsy
0.43
Intellectual disability
0.42
autosomal recessive non-syndromic intellectual disability
0.37
neurodegenerative disease
0.21
systemic sclerosis
0.14
systemic lupus erythematosus
0.14
Floating-Harbor syndrome
0.12
glioblastoma
0.08
Fuchs endothelial corneal dystrophy
0.08

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

Protein function (UniProt)

Neurochondrin

Probably involved in signal transduction in the nervous system, via increasing cell surface localization of GRM5/mGluR5 and positively regulating its signaling (PubMed:33711248). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth (Probable)