DCDC2 Gene - Doublecortin Domain Containing 2
Genetic insights into DCDC2: role in neuronal migration, ciliary function, and associated disorders
Gene Information Card
| Symbol | DCDC2 |
|---|---|
| Full Name | Doublecortin Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p22.3 |
| NCBI Gene ID | 51473 ncbi.nlm.nih.gov/gene/51473 |
| Ensembl ID | ENSG00000146038 |
| UniProt ID | Q9UHG2 |
| OMIM ID | 605755 |
| HGNC ID | 18141 |
| Aliases | DCDC2A, RU2, RU2S, DCDC2b |
Description
DCDC2 (doublecortin domain containing 2) is a protein-coding gene located on chromosome 6p22.3. It encodes a member of the doublecortin family, characterized by two doublecortin (DCX) domains that bind microtubules and regulate microtubule polymerization. DCDC2 is involved in neuronal migration, ciliary function, and cell cycle regulation. Variants in DCDC2 have been associated with reading disability (dyslexia) and ciliopathies such as nephronophthisis and retinal degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dyslexia (reading disability) | Altered neuronal migration and axonal guidance due to DCDC2 variants affecting microtubule dynamics | Multiple association studies; OMIM 605755; ClinVar |
| Nephronophthisis (NPHP) | Loss of ciliary function in renal tubular epithelial cells due to DCDC2 mutations | OMIM 605755; ClinVar; literature |
| Retinal degeneration (retinitis pigmentosa-like) | Impaired photoreceptor ciliary transport and maintenance | OMIM 605755; ClinVar; case reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Testis | 6.1 | Low |
| Retina | 15.2 | Medium |
| Lung | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model |
| HEK 293 (embryonic kidney) | 9.2 | Renal epithelial model |
| ARPE-19 (retinal pigment epithelium) | 14.5 | Retinal model |
| HepG2 (hepatocellular carcinoma) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.125C>T (p.Pro42Leu) | Missense | Rare | Reduced microtubule binding; associated with dyslexia |
| c.229G>A (p.Gly77Arg) | Missense | Rare | Impaired ciliary function; reported in nephronophthisis |
| c.503_504del (p.Leu168Argfs*5) | Frameshift | Rare | Loss of function; truncation of DCX domains |
| c.832C>T (p.Arg278*) | Nonsense | Rare | Premature stop; loss of protein function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., c.503_504del, c.832C>T) lead to truncated or absent DCDC2 protein, impairing microtubule binding and ciliary function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in DCDC2.
Dominant Negative (DN)
Missense mutations (e.g., p.Pro42Leu) may exert dominant-negative effects by disrupting microtubule dynamics in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • microtubule motor activity (GO:0003777) | • microtubule binding (GO:0008017) |
| • microtubule (GO:0005874) | • neuron migration (GO:0001764) |
| • cilium assembly (GO:0060271) | • axon guidance (GO:0007411) |
Pathways
• Microtubule cytoskeleton organization
• Neuronal migration pathway
• Ciliary assembly and transport
Protein Summary
The DCDC2 protein (UniProt Q9UHG2) contains two doublecortin (DCX) domains that mediate microtubule binding and stabilization. It is expressed in brain, kidney, retina, and testis. DCDC2 plays a critical role in neuronal migration during cortical development, ciliary function in renal and retinal cells, and cell cycle progression. Mutations in DCDC2 are linked to dyslexia, nephronophthisis, and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCDC2B Knockout HEK293 Cell Line | EDJ-KQ10932 | Human | 149069 | Details Get a Quote |
| DCDC2 Knockout HEK293 Cell Line | EDJ-KQ11107 | Human | 51473 | Details Get a Quote |
| DCDC2C Knockout HEK293 Cell Line | EDJ-KQ13105 | Human | 728597 | Details Get a Quote |
| DCDC2 Knockout A-549 Cell Line | EDJ-KQ37761 | Human | 51473 | Details Get a Quote |
| DCDC2 Knockout HeLa Cell Line | EDJ-KQ56316 | Human | 51473 | Details Get a Quote |
| DCDC2B Knockout HeLa Cell Line | EDJ-KQ58621 | Human | 149069 | Details Get a Quote |
| DCDC2C Knockout HeLa Cell Line | EDJ-KQ60716 | Human | 728597 | Details Get a Quote |
| DCDC2B Knockout A-549 Cell Line | EDJ-KQ67103 | Human | 149069 | Details Get a Quote |
| DCDC2C Knockout A-549 Cell Line | EDJ-KQ69187 | Human | 728597 | Details Get a Quote |
| DCDC2 Knockout HCT 116 Cell Line | EDJ-KQ73248 | Human | 51473 | Details Get a Quote |
| DCDC2B Knockout HCT 116 Cell Line | EDJ-KQ75513 | Human | 149069 | Details Get a Quote |
| DCDC2C Knockout HCT 116 Cell Line | EDJ-KQ77542 | Human | 728597 | Details Get a Quote |
