DCAF12L2 Gene: Function, Expression, and Clinical Significance
Comprehensive resource on DCAF12L2 (DDB1 and CUL4 associated factor 12 like 2), including genomic context, expression, and potential implications.
Gene Information Card
| Symbol | DCAF12L2 |
|---|---|
| Full Name | DDB1 and CUL4 associated factor 12 like 2 |
| Gene Type | gene with protein product |
| Chromosomal Location | Xq25 |
| NCBI Gene ID | 340578 ncbi.nlm.nih.gov/gene/340578 |
| Ensembl ID | ENSG00000198354 |
| UniProt ID | Q5VW00 |
| OMIM ID | Not available |
| HGNC ID | HGNC:32950 |
| Aliases | WDR40C |
Description
DCAF12L2 (DDB1 and CUL4 associated factor 12 like 2) is a protein-coding gene located on the X chromosome at Xq25. It is a member of the DCAF (DDB1- and CUL4-associated factor) family, which are substrate receptors for CUL4-based E3 ubiquitin ligase complexes. The gene is also known by the alias WDR40C. Its exact function is not fully characterized, but it is predicted to be involved in ubiquitination and protein degradation pathways. DCAF12L2 is expressed in various tissues, with notable expression in the testis and certain brain regions. Mutations and altered expression of this gene may be associated with certain cancers and other diseases, although more research is needed to establish definitive links.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may contribute to tumorigenesis via dysregulation of ubiquitin-proteasome system. | Limited evidence from expression studies; further validation needed. |
| Neurodevelopmental disorders | Potential involvement in neuronal development and function due to expression in brain. | Insufficient evidence; speculative based on expression patterns. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.0 | Moderate expression |
| HeLa | 2.5 | Low expression |
| K562 | 1.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs142513484 | SNV | 0.1% | Missense; potential functional impact |
| rs201430943 | SNV | 0.05% | Synonymous; likely benign |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • ubiquitin-protein transferase activity |
Pathways
• Ubiquitin mediated proteolysis
Protein Summary
The DCAF12L2 protein is a predicted substrate receptor for CUL4-based E3 ubiquitin ligase complexes. It contains WD40 repeats, which are typical of DCAF proteins, and is thought to recruit specific substrates for ubiquitination and subsequent degradation. The protein is localized in the cytoplasm and nucleus, and its expression is regulated in a tissue-specific manner. Further studies are needed to identify its specific substrates and biological roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF12L2 Knockout HEK293 Cell Line | EDJ-KQ13101 | Human | 340578 | Details Get a Quote |
| DCAF12L2 Knockout HeLa Cell Line | EDJ-KQ59688 | Human | 340578 | Details Get a Quote |
| DCAF12L2 Knockout A-549 Cell Line | EDJ-KQ68159 | Human | 340578 | Details Get a Quote |
| DCAF12L2 Knockout HCT 116 Cell Line | EDJ-KQ76535 | Human | 340578 | Details Get a Quote |
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