DCDC2

Chr 6p22.3

doublecortin domain containing 2

Aliases:: RU2, KIAA1154, DCDC2A, NPHP19
MANE:: ENST00000378454.8

OMIM: 605755 ↗NCBI: 51473 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

DCDC2 · Q9UHG0

v62025-08-01

Predicted Aligned Error matrix for DCDC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.7/ 100

Low

476 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)23%
Low(50–70)21%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Cholestasis
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Neonatal cholestasis
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies
BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Rare multisystem ciliopathy disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Senior-Boichis syndrome
0.69
sclerosing cholangitis
0.65
hearing loss, autosomal recessive
0.64
deafness
0.55
dyslexia
0.38
ciliopathy
0.38
neurodegenerative disease
0.37
chylomicron retention disease
0.34
nonsyndromic deafness
0.33
nervous system benign neoplasm
0.28

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

Protein function (UniProt)

Doublecortin domain-containing protein 2

Protein that plays a role in the inhibition of canonical Wnt signaling pathway (PubMed:25557784). May be involved in neuronal migration during development of the cerebral neocortex (By similarity). Involved in the control of ciliogenesis and ciliary length (PubMed:25601850, PubMed:27319779)