Gene: DCDC2

Alternate names for this Gene: DCDC2A|DFNB66|NPHP19|NSC|RU2|RU2S

Gene 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: doublecortin domain containing 2

Type of Gene: protein-coding

rs904944428 in DCDC2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 66 PMID 27469900 2016 Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.

rs3765502 in DCDC2 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

rs10806984 in DCDC2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs12189861 in DCDC2 gene and Major Depressive Disorder PMID 29662059 2018 Genome-wide association study of depression phenotypes in UK Biobank identifies variants in excitatory synaptic pathways.

rs794729665 in DCDC2 gene and Nonsyndromic Deafness PMID 25601850 2015 A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

rs16889038 in DCDC2 gene and Respiratory Function Tests PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

rs904944428 in DCDC2 gene and SCLEROSING CHOLANGITIS, NEONATAL PMID 27469900 2016 Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis.