DCDC2B
Doublecortin Domain Containing 2B
Gene Information Card
| Symbol | DCDC2B |
|---|---|
| Full Name | Doublecortin Domain Containing 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 149069 ncbi.nlm.nih.gov/gene/149069 |
| Ensembl ID | ENSG00000162614 |
| UniProt ID | Q8N5L8 |
| OMIM ID | 617063 |
| HGNC ID | 25037 |
| Aliases | RU2S, DCX2B |
Description
DCDC2B (Doublecortin Domain Containing 2B) is a protein-coding gene located on chromosome 1p35.1. It encodes a protein containing two doublecortin domains, which are involved in microtubule binding and stabilization. DCDC2B is expressed in ciliated tissues and is implicated in ciliary function and neuronal migration. Mutations in DCDC2B have been associated with nephronophthisis-related ciliopathies and possibly hearing loss.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 19 | Loss of ciliary function due to DCDC2B mutations | ClinVar, OMIM #617063 |
| Ciliopathy (general) | Disrupted microtubule dynamics in primary cilia | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Liver | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 3.4 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.433C>T (p.Arg145*) | Nonsense | <0.01% | Loss of function; associated with nephronophthisis |
| c.638G>A (p.Arg213Gln) | Missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg145*) lead to truncated protein and loss of microtubule-binding function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • microtubule binding | • doublecortin domain |
| • ciliary basal body | • cytoplasm |
| • microtubule cytoskeleton organization |
Pathways
• Ciliopathy-associated pathways
• Microtubule cytoskeleton regulation
Protein Summary
The DCDC2B protein contains two doublecortin domains that bind and stabilize microtubules. It is localized to the ciliary basal body and is essential for primary cilia formation and function. The protein is expressed in ciliated tissues such as kidney and testis, and its loss leads to ciliary defects associated with nephronophthisis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCDC2B Knockout HEK293 Cell Line | EDJ-KQ10932 | Human | 149069 | Details Get a Quote |
| DCDC2B Knockout HeLa Cell Line | EDJ-KQ58621 | Human | 149069 | Details Get a Quote |
| DCDC2B Knockout A-549 Cell Line | EDJ-KQ67103 | Human | 149069 | Details Get a Quote |
| DCDC2B Knockout HCT 116 Cell Line | EDJ-KQ75513 | Human | 149069 | Details Get a Quote |
