DCDC2

Chr 6

doublecortin domain containing 2

ENSG00000146038UniProt: Q9UHG0

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)

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDyslexia 2
UniProtNephronophthisis 19
UniProtDeafness, autosomal recessive, 66
UniProtSclerosing cholangitis, neonatal

Clinical highlights

Gene-disease validity (ClinGen)
ciliopathy · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.16
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (2)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 1.00
OE 0.77 (0.53–1.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.43Z-score
OE missense 0.93 (0.83–1.03)
252 obs / 272.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.53–1.16)
0≤0.351.4
Missense OE?0.93 (0.83–1.03)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 17 / 22.1Missense obs/exp: 252 / 272.0Syn Z: -0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DCDC2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients