DCDC2C
Doublecortin Domain Containing 2C
Gene Information Card
| Symbol | DCDC2C |
|---|---|
| Full Name | Doublecortin Domain Containing 2C |
| Gene Type | Protein coding |
| Chromosomal Location | 2p25.3 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000214944 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617823 |
| HGNC ID | 40052 |
| Aliases | DCDC2C, FLJ45831 |
Description
DCDC2C (Doublecortin Domain Containing 2C) is a protein-coding gene located on chromosome 2p25.3. It belongs to the doublecortin family, which is involved in microtubule binding and neuronal migration. The gene is expressed in various tissues, with notable expression in the brain and testis. DCDC2C has been implicated in ciliary function and neurodevelopmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis | Defects in ciliary function due to DCDC2C mutations may disrupt renal tubule structure and function. | ClinVar, OMIM |
| Joubert syndrome | Loss of DCDC2C function impairs ciliary signaling, leading to cerebellar and retinal abnormalities. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Testis | 3.8 | Low |
| Kidney | 2.1 | Not detected |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| SH-SY5Y | 1.2 | Moderate expression |
| HepG2 | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of 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 |
Pathways
• Cilium assembly
• Microtubule cytoskeleton organization
Protein Summary
The DCDC2C protein contains a doublecortin domain that binds microtubules and is involved in ciliary function. It is localized to the cytoplasm and ciliary basal body. The protein is 300 amino acids long and has a molecular weight of approximately 34 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCDC2C Knockout HEK293 Cell Line | EDJ-KQ13105 | Human | 728597 | Details Get a Quote |
| DCDC2C Knockout HeLa Cell Line | EDJ-KQ60716 | Human | 728597 | Details Get a Quote |
| DCDC2C Knockout A-549 Cell Line | EDJ-KQ69187 | Human | 728597 | Details Get a Quote |
| DCDC2C Knockout HCT 116 Cell Line | EDJ-KQ77542 | Human | 728597 | Details Get a Quote |
