DCDC2 doublecortin domain containing 2
Gene ID: 51473, updated on 22-Apr-2024Gene type: protein coding
Also known as: NSC; RU2; RU2S; DCDC2A; DFNB66; NPHP19
- See all available tests in GTR for this gene
- Go to complete Gene record for DCDC2
- Go to Variation Viewer for DCDC2 variants
Summary
This gene encodes a doublecortin domain-containing family member. The doublecortin domain has been demonstrated to bind tubulin and enhance microtubule polymerization. This family member is thought to function in neuronal migration where it may affect the signaling of primary cilia. Mutations in this gene have been associated with reading disability (RD) type 2, also referred to as developmental dyslexia. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of serum uric acid in African Americans. GeneReviews: Not available | |
| Autosomal recessive nonsyndromic hearing loss 66 | See labs |
| Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. GeneReviews: Not available | |
| Isolated neonatal sclerosing cholangitis | See labs |
| Nephronophthisis 19 | See labs |
| Whole genome association scan for genetic polymorphisms influencing information processing speed. GeneReviews: Not available |
Genomic context
- Location:
- 6p22.3
- Sequence:
- Chromosome: 6; NC_000006.12 (24171755..24383292, complement)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DCDC2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DCDC2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.