Browse All / Genes / DCDC2

DCDC2

doublecortin domain containing 2
3 disorders 2 causative 1 susceptibility 6p22.3 gene with protein product
HGNC:18141MonarchNCBI Gene 51473ENSG00000146038UniProt Q9UHG0OMIM 605755

Previous symbols: DFNB66. Aliases: RU2, KIAA1154, DCDC2A, NPHP19.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Dyslexia susceptibility germline
Nephronophthisis causative
mechanism: Ciliary Dysfunction; Impaired Cell Signaling
subtype: DCDC2-related
scoped to subtype: DCDC2-related
Sclerosing Cholangitis causative germline loss of function
mechanism: Cholangiocyte Primary Cilium Loss
subtype: Isolated neonatal sclerosing cholangitis
scoped to subtype: Isolated neonatal sclerosing cholangitis
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
ciliopathy MONDO:0005308 AR Definitive
2021-10-13
 no dismech entry
nonsyndromic genetic hearing loss MONDO:0019497 AR Limited
2020-08-31
 no dismech entry
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.