AlphaFold predicted structure
DCC · P43146
Mean pLDDT
68.2/ 100
Low
1,447 residues
Confidence breakdown
- Very high(≥ 90)25%
- Confident(70–90)39%
- Low(50–70)6%
- Very low(< 50)29%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DCC
Chr 18q21.2DCC netrin 1 receptor
- Aliases:
- IGDCC1, NTN1R1
- MANE:
- ENST00000442544.7
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalAtaxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomalCerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomalEhlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
mirror movements 1
0.79horizontal gaze palsy with progressive scoliosis
0.66mirror movements 1 and/or agenesis of the corpus callosum
0.60Agenesis of corpus callosum
0.52hereditary disease
0.52autism spectrum disorder
0.47smoking initiation
0.45attention deficit-hyperactivity disorder
0.43intelligence
0.41colorectal cancer
0.40
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Netrin receptor DCC
Receptor for netrin required for axon guidance. Mediates axon attraction of neuronal growth cones in the developing nervous system upon ligand binding. Its association with UNC5 proteins may trigger signaling for axon repulsion. It also acts as a dependence receptor required for apoptosis induction when not associated with netrin ligand. Implicated as a tumor suppressor gene
Diseases associated with DCC
Curated MONDO disease pages that list DCC among their top associated genes.