DCDC2 Chromosome 6
Doublecortin domain containing 2
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What This Gene Does
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]
Gene Info
Gene Group
Doublecortin superfamily
Locus Type
gene with protein product
Location
6p22.3
Ensembl
ENSG00000146038
Associated Conditions (10)
Isolated neonatal sclerosing cholangitis
Autosomal recessive nonsyndromic hearing loss 66
Nephronophthisis 19
DCDC2-related disorder
Inborn genetic diseases
Chylomicron retention disease
Dyslexia
susceptibility to
2
Nonsyndromic Deafness
Key Variants
RS1027558772
Conflicting classifications of pathogenicity
Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19
Health Risk
RS138670560
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder
Health Risk
RS140084657
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
Health Risk
RS141060456
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases
Health Risk
RS142088541
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder
Health Risk
RS144695853
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
Health Risk
RS145154884
Conflicting classifications of pathogenicity
Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, DCDC2-related disorder
Health Risk
RS146787541
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases
Health Risk
RS1561755265
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1561889345
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
Health Risk
RS183480366
Conflicting classifications of pathogenicity
Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
Health Risk
RS372157851
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1027558772 | Health Risk | Conflicting classifications of pathogenicity | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19 |
| RS138670560 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS140084657 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS141060456 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases |
| RS142088541 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS144695853 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS145154884 | Health Risk | Conflicting classifications of pathogenicity | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, DCDC2-related disorder |
| RS146787541 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases |
| RS1561755265 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1561889345 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS183480366 | Health Risk | Conflicting classifications of pathogenicity | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS372157851 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS374448795 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS41271773 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS538198742 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS577487337 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS745333409 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS751249656 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS758802517 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS765613994 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, DCDC2-related disorder |
| RS771591530 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases |
| RS781510673 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19 |
| RS1581640646 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19 |
| RS1760494153 | Health Risk | Likely pathogenic | Nephronophthisis 19, Nephronophthisis 19 |
| RS1761673797 | Health Risk | Likely pathogenic | Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis |
| RS2113838226 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS2532474939 | Health Risk | Likely pathogenic | Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis |
| RS760084731 | Health Risk | Likely pathogenic | Nephronophthisis 19, Nephronophthisis 19 |
| RS775868003 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 66, Autosomal recessive nonsyndromic hearing loss 66 |
| RS962387857 | Health Risk | Likely pathogenic | DCDC2-related disorder, DCDC2-related disorder |
| RS1042640142 | Health Risk | Pathogenic | Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis |
| RS1050411259 | Health Risk | Pathogenic | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19 |
| RS1554121105 | Health Risk | Pathogenic | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis |
| RS1561787158 | Health Risk | Pathogenic | — |
| RS2113838075 | Health Risk | Pathogenic | Isolated neonatal sclerosing cholangitis, Isolated neonatal sclerosing cholangitis |
| RS2127255428 | Health Risk | Pathogenic | Chylomicron retention disease, Chylomicron retention disease |
| RS730880299 | Health Risk | Pathogenic | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19 |
| RS757704417 | Health Risk | Pathogenic | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Dyslexia |
| RS760040426 | Health Risk | Pathogenic | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis |
| RS762516961 | Health Risk | Pathogenic | DCDC2-related disorder, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 |
| RS763299947 | Health Risk | Pathogenic | DCDC2-related disorder, DCDC2-related disorder |
| RS794729665 | Health Risk | Pathogenic | Nonsyndromic Deafness, Autosomal recessive nonsyndromic hearing loss 66, Nonsyndromic Deafness |
| RS904944428 | Health Risk | Pathogenic | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19 |
| RS1554144869 | Health Risk | Pathogenic/Likely pathogenic | Isolated neonatal sclerosing cholangitis, Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66 |
| RS774115675 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19 |
| RS904520404 | Health Risk | Pathogenic/Likely pathogenic | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis |