DCAF12
DDB1 and CUL4 Associated Factor 12
Gene Information Card
| Symbol | DCAF12 |
|---|---|
| Full Name | DDB1 and CUL4 Associated Factor 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 25853 ncbi.nlm.nih.gov/gene/25853 |
| Ensembl ID | ENSG00000106868 |
| UniProt ID | Q5T6F2 |
| OMIM ID | 618577 |
| HGNC ID | 20251 |
| Aliases | CTRCT45, WDR40A, MGC13170 |
Description
DCAF12 encodes a WD repeat-containing protein that functions as a substrate receptor for the DDB1-CUL4-RBX1 E3 ubiquitin ligase complex. It is involved in ubiquitination and proteasomal degradation of target proteins, and mutations in this gene are associated with autosomal dominant congenital cataracts (CTRCT45).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cataract 45 (CTRCT45) | Missense mutations in DCAF12 impair substrate recognition or complex assembly, leading to lens opacity | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Liver | 5.3 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.7 | Moderate expression |
| K562 | 6.4 | Low expression |
| HepG2 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.326G>A (p.Arg109Gln) | Missense | Rare | Likely pathogenic; associated with CTRCT45 |
| c.416C>T (p.Pro139Leu) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense mutations may reduce binding to DDB1 or target proteins, impairing ubiquitin ligase activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Possible for CTRCT45-associated variants, as they may disrupt complex function in a heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin-protein transferase activity | • protein binding |
| • WD40-repeat domain binding | • cytoplasm |
| • nucleus | • DDB1-CUL4-RBX1 E3 ubiquitin ligase complex |
Pathways
• Ubiquitin mediated proteolysis (KEGG hsa04120)
• CUL4-DDB1 E3 ubiquitin ligase complex pathway
Protein Summary
DCAF12 is a 546-amino acid WD40 repeat-containing protein that acts as a substrate receptor for the CUL4-DDB1 E3 ubiquitin ligase complex. It recognizes specific substrates for ubiquitination and subsequent proteasomal degradation. The protein is expressed in multiple tissues, with highest levels in testis. Mutations in DCAF12 cause autosomal dominant congenital cataract 45.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DCAF12 Knockout HEK293 Cell Line | EDJ-KQ2888 | Human | 25853 | Details Get a Quote |
| DCAF12L1 Knockout HEK293 Cell Line | EDJ-KQ9523 | Human | 139170 | Details Get a Quote |
| DCAF12L2 Knockout HEK293 Cell Line | EDJ-KQ13101 | Human | 340578 | Details Get a Quote |
| DCAF12 Knockout A-549 Cell Line | EDJ-KQ25334 | Human | 25853 | Details Get a Quote |
| DCAF12 Knockout HCT 116 Cell Line | EDJ-KQ25335 | Human | 25853 | Details Get a Quote |
| DCAF12 Knockout HeLa Cell Line | EDJ-KQ25336 | Human | 25853 | Details Get a Quote |
| DCAF12L1 Knockout HeLa Cell Line | EDJ-KQ58407 | Human | 139170 | Details Get a Quote |
| DCAF12L2 Knockout HeLa Cell Line | EDJ-KQ59688 | Human | 340578 | Details Get a Quote |
| DCAF12L1 Knockout A-549 Cell Line | EDJ-KQ66896 | Human | 139170 | Details Get a Quote |
| DCAF12L2 Knockout A-549 Cell Line | EDJ-KQ68159 | Human | 340578 | Details Get a Quote |
| DCAF12L1 Knockout HCT 116 Cell Line | EDJ-KQ75298 | Human | 139170 | Details Get a Quote |
| DCAF12L2 Knockout HCT 116 Cell Line | EDJ-KQ76535 | Human | 340578 | Details Get a Quote |
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