DCAF4
gene geneOn this page
Also known as DKFZp434K114
Summary
DCAF4 (DDB1 and CUL4 associated factor 4, HGNC:20229) is a protein-coding gene on chromosome 14q24.2, encoding DDB1- and CUL4-associated factor 4 (Q8WV16). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 26094 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 123 total
- MANE Select transcript:
NM_015604
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20229 |
| Approved symbol | DCAF4 |
| Name | DDB1 and CUL4 associated factor 4 |
| Location | 14q24.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp434K114 |
| Ensembl gene | ENSG00000119599 |
| Ensembl biotype | protein_coding |
| OMIM | 616372 |
| Entrez | 26094 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 13 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000353777, ENST00000358377, ENST00000394234, ENST00000505361, ENST00000508412, ENST00000509153, ENST00000509320, ENST00000510612, ENST00000513337, ENST00000514191, ENST00000514486, ENST00000553457, ENST00000555042, ENST00000555992, ENST00000557203, ENST00000850844, ENST00000850845, ENST00000892932, ENST00000892933, ENST00000892934, ENST00000892935, ENST00000943130
RefSeq mRNA: 8 — MANE Select: NM_015604
NM_001163508, NM_001163509, NM_001352447, NM_001352448, NM_001352449, NM_015604, NM_181340, NM_181341
CCDS: CCDS41968, CCDS55926, CCDS9809, CCDS9810
Canonical transcript exons
ENST00000358377 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001097298 | 72945884 | 72946027 |
| ENSE00001154214 | 72954164 | 72954262 |
| ENSE00002043252 | 72958612 | 72959703 |
| ENSE00003471259 | 72939802 | 72939902 |
| ENSE00003489962 | 72947142 | 72947191 |
| ENSE00003496111 | 72941745 | 72941824 |
| ENSE00003520618 | 72940220 | 72940377 |
| ENSE00003545682 | 72956386 | 72956500 |
| ENSE00003554218 | 72955523 | 72955696 |
| ENSE00003597331 | 72951798 | 72951877 |
| ENSE00003597666 | 72954386 | 72954483 |
| ENSE00003618620 | 72942994 | 72943096 |
| ENSE00003684628 | 72937971 | 72938070 |
| ENSE00004282476 | 72926464 | 72926543 |
Expression profiles
Bgee: expression breadth ubiquitous, 219 present calls, max score 88.45.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.1875 / max 155.1186, expressed in 1770 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 140490 | 11.2167 | 1769 |
| 140491 | 0.8817 | 462 |
| 140492 | 0.0613 | 27 |
| 140493 | 0.0278 | 14 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.45 | gold quality |
| skin of leg | UBERON:0001511 | 87.06 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 86.83 | gold quality |
| skin of abdomen | UBERON:0001416 | 86.76 | gold quality |
| body of pancreas | UBERON:0001150 | 86.70 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.47 | gold quality |
| thyroid gland | UBERON:0002046 | 86.25 | gold quality |
| right coronary artery | UBERON:0001625 | 85.37 | gold quality |
| cortical plate | UBERON:0005343 | 85.11 | gold quality |
| gastrocnemius | UBERON:0001388 | 84.82 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 84.82 | gold quality |
| left ovary | UBERON:0002119 | 84.76 | gold quality |
| right ovary | UBERON:0002118 | 84.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.47 | gold quality |
| zone of skin | UBERON:0000014 | 84.33 | gold quality |
| popliteal artery | UBERON:0002250 | 84.26 | gold quality |
| tibial artery | UBERON:0007610 | 84.24 | gold quality |
| pons | UBERON:0000988 | 84.12 | silver quality |
| muscle of leg | UBERON:0001383 | 83.91 | gold quality |
| metanephros cortex | UBERON:0010533 | 83.45 | gold quality |
| aorta | UBERON:0000947 | 83.42 | gold quality |
| sural nerve | UBERON:0015488 | 83.40 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.18 | gold quality |
| ovary | UBERON:0000992 | 83.04 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.63 | gold quality |
| ascending aorta | UBERON:0001496 | 82.60 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.50 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.49 | gold quality |
| ectocervix | UBERON:0012249 | 82.49 | gold quality |
| pancreas | UBERON:0001264 | 82.42 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.02 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
27 targeting DCAF4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-4493 | 99.90 | 66.48 | 977 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-302B-5P | 99.50 | 69.49 | 1857 |
| HSA-MIR-302D-5P | 99.50 | 69.34 | 1863 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-6719-3P | 99.29 | 67.78 | 1387 |
| HSA-MIR-4477B | 99.23 | 70.49 | 1733 |
| HSA-MIR-8077 | 99.17 | 66.67 | 862 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-4650-3P | 99.01 | 68.39 | 1062 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-4451 | 98.82 | 68.17 | 1455 |
| HSA-MIR-1261 | 98.62 | 68.10 | 896 |
| HSA-MIR-224-5P | 98.33 | 70.12 | 1256 |
| HSA-MIR-93-3P | 98.15 | 66.65 | 1309 |
| HSA-MIR-432-5P | 98.00 | 68.13 | 989 |
| HSA-MIR-6865-3P | 97.54 | 64.67 | 684 |
| HSA-MIR-1910-5P | 97.42 | 66.36 | 844 |
| HSA-MIR-6816-3P | 95.05 | 66.08 | 459 |
Literature-anchored findings (GeneRIF, showing 3)
- The minor allele of WDR21A may induce a good response to inhaled corticosteroids possibly through competition with the Gbeta(1) proteins for binding to GRs (PMID:22366774)
- Genome-wide association (GWA) meta-analysis and de novo genotyping of 20 022 individuals revealed a novel association (p=6.4x10(-10)) between LTL and rs2535913, which lies within DCAF4 (PMID:25624462)
- our results suggest that rs12587742 is associated with an increased lung cancer risk, possibly by up-regulating mRNA expression and decreasing methylation status of DCAF4. (PMID:28383684)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Dcaf4 | ENSMUSG00000021222 |
| rattus_norvegicus | Dcaf4 | ENSRNOG00000008399 |
Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)
Protein
Protein identifiers
DDB1- and CUL4-associated factor 4 — Q8WV16 (reviewed: Q8WV16)
Alternative names: WD repeat-containing protein 21A
All UniProt accessions (4): Q8WV16, D6RCB5, G3V3D6, Q86SY2
UniProt curated annotations — full annotation on UniProt →
Function. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Subunit / interactions. Interacts with DDB1 and CUL4A.
Pathway. Protein modification; protein ubiquitination.
Polymorphism. An intronic G-to-A transition (rs2535913) has been associated with leukocyte telomere length. The minor A allele is associated with shorter telomeres and lower expression in lymphoblastoid cells and in sun-exposed skin.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8WV16-1 | 1 | yes |
| Q8WV16-2 | 2 | |
| Q8WV16-3 | 3 | |
| Q8WV16-4 | 4 | |
| Q8WV16-5 | 5 |
RefSeq proteins (8): NP_001156980, NP_001156981, NP_001339376, NP_001339377, NP_001339378, NP_056419, NP_851937, NP_851938 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR052254 | CUL4-DDB1_E3_ligase_receptor | Family |
Pfam: PF23761
UniProt features (24 total): splice variant 6, sequence variant 6, sequence conflict 4, compositionally biased region 3, repeat 2, chain 1, helix 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3I8C | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8WV16-F1 | 77.34 | 0.34 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 128 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MORF_ZNF10, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, chr14q24, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, MORF_EPHA7, MORF_IL9, MORF_DCC, GOCC_TRANSFERASE_COMPLEX, GAL_LEUKEMIC_STEM_CELL_UP, SANSOM_APC_TARGETS, GOCC_CUL4_RING_E3_UBIQUITIN_LIGASE_COMPLEX, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX
GO Biological Process (1): protein ubiquitination (GO:0016567)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleoplasm (GO:0005654), Cul4-RING E3 ubiquitin ligase complex (GO:0080008)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein modification by small protein conjugation | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
496 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DCAF4 | DDB1 | Q16531 | 845 |
| DCAF4 | DCAF12 | Q5T6F0 | 610 |
| DCAF4 | ZNF208 | O43345 | 576 |
| DCAF4 | DCAF5 | Q96JK2 | 574 |
| DCAF4 | ZNF676 | Q8N7Q3 | 571 |
| DCAF4 | DCAF8 | Q5TAQ9 | 552 |
| DCAF4 | RBX1 | P62877 | 551 |
| DCAF4 | DCAF6 | Q58WW2 | 551 |
| DCAF4 | ST7 | Q9NRC1 | 527 |
| DCAF4 | DDB2 | Q92466 | 524 |
| DCAF4 | DCAF10 | Q5QP82 | 509 |
| DCAF4 | ACYP2 | P14621 | 507 |
| DCAF4 | CUL4A | Q13619 | 471 |
| DCAF4 | DCAF11 | Q8TEB1 | 470 |
| DCAF4 | LRRIQ4 | A6NIV6 | 464 |
IntAct
99 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NOP10 | DKC1 | psi-mi:“MI:0914”(association) | 0.890 |
| COPS2 | GPS1 | psi-mi:“MI:0914”(association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| CUL4B | RBX1 | psi-mi:“MI:0914”(association) | 0.820 |
| DDB1 | DCAF4 | psi-mi:“MI:0407”(direct interaction) | 0.790 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| DCAF4 | DDB1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| DKC1 | SHQ1 | psi-mi:“MI:0914”(association) | 0.670 |
| PFDN2 | POLR3A | psi-mi:“MI:0914”(association) | 0.670 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| NEUROG3 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL4A | RBX1 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2F | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| GLMN | FKBP5 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (578): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS), DCAF4 (Affinity Capture-MS)
ESM2 similar proteins: A0A140LI67, A0A1W2PR48, A0JP70, D3YYM4, F1LW30, O13034, O15040, O70173, Q15345, Q3SXM0, Q3UDP0, Q3UJB9, Q3ULW6, Q3V129, Q3ZAV8, Q58DC2, Q5F479, Q5JV73, Q5M9H0, Q5M9H1, Q5R6T6, Q5R9H2, Q68DX3, Q6IRN0, Q6NV72, Q6P2E9, Q6P4K6, Q6PCD5, Q6ZPG2, Q6ZW76, Q7TNH6, Q80TQ5, Q8BLD6, Q8C008, Q8C5V5, Q8CBW4, Q8CIK8, Q8IWE5, Q8JZL1, Q8K1C9
Diamond homologs: Q3SXM0, Q58DC2, Q8NA75, Q8WV16, Q8RXA7
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DCAF4 | “up-regulates activity” | OPTN | binding |
| DCAF4 | “up-regulates activity” | Cullin4-RBX1-DDB1 | binding |
| DCAF4 | “down-regulates quantity by destabilization” | ST7 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 93 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 11 | 50.6× | 1e-14 |
| Formation of TC-NER Pre-Incision Complex | 12 | 40.9× | 1e-14 |
| Transcription-Coupled Nucleotide Excision Repair (TC-NER) | 5 | 21.4× | 2e-04 |
| Gap-filling DNA repair synthesis and ligation in TC-NER | 5 | 14.4× | 8e-04 |
| Dual incision in TC-NER | 5 | 13.9× | 8e-04 |
| Cargo recognition for clathrin-mediated endocytosis | 7 | 11.8× | 1e-04 |
| Peptide chain elongation | 5 | 10.2× | 3e-03 |
| Viral mRNA Translation | 5 | 10.2× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 7 | 76.2× | 3e-10 |
| protein neddylation | 8 | 65.3× | 5e-11 |
| cytoplasmic translation | 5 | 10.8× | 6e-03 |
| protein folding | 7 | 8.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
123 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 90 |
| Likely benign | 16 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2305 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:72926542:AGGTA:A | donor_loss | 1.0000 |
| 14:72926543:GGTA:G | donor_loss | 1.0000 |
| 14:72926544:G:GG | donor_gain | 1.0000 |
| 14:72926545:T:A | donor_loss | 1.0000 |
| 14:72937969:A:AC | acceptor_loss | 1.0000 |
| 14:72937969:A:AG | acceptor_gain | 1.0000 |
| 14:72937969:AG:A | acceptor_gain | 1.0000 |
| 14:72937970:G:GC | acceptor_gain | 1.0000 |
| 14:72937970:GG:G | acceptor_gain | 1.0000 |
| 14:72937970:GGAAC:G | acceptor_gain | 1.0000 |
| 14:72939800:A:G | acceptor_loss | 1.0000 |
| 14:72939899:CCAGG:C | donor_loss | 1.0000 |
| 14:72939900:CAGGT:C | donor_loss | 1.0000 |
| 14:72939901:AGGTA:A | donor_loss | 1.0000 |
| 14:72939902:GGT:G | donor_loss | 1.0000 |
| 14:72940216:A:AG | acceptor_gain | 1.0000 |
| 14:72940217:A:G | acceptor_gain | 1.0000 |
| 14:72940218:A:AG | acceptor_gain | 1.0000 |
| 14:72940219:G:GG | acceptor_gain | 1.0000 |
| 14:72940219:GA:G | acceptor_gain | 1.0000 |
| 14:72940239:T:TA | acceptor_gain | 1.0000 |
| 14:72940245:T:TA | acceptor_gain | 1.0000 |
| 14:72940275:T:TA | acceptor_gain | 1.0000 |
| 14:72940276:G:A | acceptor_gain | 1.0000 |
| 14:72940357:G:GT | donor_gain | 1.0000 |
| 14:72940374:AAAGG:A | donor_loss | 1.0000 |
| 14:72940375:AAGG:A | donor_loss | 1.0000 |
| 14:72940376:AGGT:A | donor_loss | 1.0000 |
| 14:72940377:GGTGG:G | donor_loss | 1.0000 |
| 14:72940378:G:GG | donor_gain | 1.0000 |
AlphaMissense
3237 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:72954256:A:C | S301R | 0.999 |
| 14:72954258:T:A | S301R | 0.999 |
| 14:72954258:T:G | S301R | 0.999 |
| 14:72947157:T:A | W232R | 0.998 |
| 14:72947157:T:C | W232R | 0.998 |
| 14:72947191:T:C | L243P | 0.998 |
| 14:72954223:T:A | W290R | 0.998 |
| 14:72954223:T:C | W290R | 0.998 |
| 14:72940261:T:C | F79L | 0.997 |
| 14:72940263:C:A | F79L | 0.997 |
| 14:72940263:C:G | F79L | 0.997 |
| 14:72945909:T:C | F187S | 0.997 |
| 14:72951842:T:C | L258P | 0.997 |
| 14:72940231:T:C | F69L | 0.996 |
| 14:72940233:T:A | F69L | 0.996 |
| 14:72940233:T:G | F69L | 0.996 |
| 14:72954254:T:C | F300S | 0.996 |
| 14:72940262:T:C | F79S | 0.995 |
| 14:72947159:G:C | W232C | 0.995 |
| 14:72947159:G:T | W232C | 0.995 |
| 14:72947161:C:A | A233D | 0.995 |
| 14:72940258:T:G | Y78D | 0.994 |
| 14:72951800:T:C | L244P | 0.994 |
| 14:72951842:T:A | L258Q | 0.994 |
| 14:72954193:T:C | F280L | 0.994 |
| 14:72954195:C:A | F280L | 0.994 |
| 14:72954195:C:G | F280L | 0.994 |
| 14:72954262:G:C | G303R | 0.994 |
| 14:72956395:T:A | W397R | 0.994 |
| 14:72956395:T:C | W397R | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000087640 (14:72928368 T>C), RS1000176647 (14:72945525 T>C), RS1000226251 (14:72929849 G>A,T), RS1000291259 (14:72945164 A>C), RS1000363284 (14:72958336 G>A), RS1000390370 (14:72951551 C>T), RS1000403818 (14:72937224 G>GA), RS1000462549 (14:72931871 G>A), RS1000465598 (14:72924983 C>T), RS1000555627 (14:72931502 C>A,T), RS1000618491 (14:72953419 A>G), RS1000678723 (14:72951714 C>T), RS1000786590 (14:72926084 A>G), RS1000815839 (14:72935277 C>T), RS1000922417 (14:72930004 T>C)
Disease associations
OMIM: gene MIM:616372 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005863_29 | Menopause (age at onset) | 1.000000e-08 |
| GCST005863_33 | Menopause (age at onset) | 3.000000e-08 |
| GCST006814_6 | End-stage renal disease | 2.000000e-06 |
| GCST008366_22 | Leukocyte telomere length | 9.000000e-09 |
| GCST009391_1990 | Metabolite levels | 8.000000e-06 |
| GCST009856_9 | Leukocyte telomere length | 2.000000e-08 |
| GCST010002_156 | Refractive error | 7.000000e-25 |
| GCST90002381_603 | Eosinophil count | 4.000000e-13 |
| GCST90002382_226 | Eosinophil percentage of white cells | 4.000000e-15 |
| GCST90002397_366 | Mean spheric corpuscular volume | 2.000000e-10 |
| GCST90002405_372 | Reticulocyte count | 3.000000e-10 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
| EFO:0005058 | tyrosine measurement |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0007986 | reticulocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs7160796 | Efficacy | 3 | corticosteroids | Asthma |
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3213729 | DCAF4 | 0.00 | 0 | ||
| rs7142086 | DCAF4 | 0.00 | 0 | ||
| rs7160796 | DCAF4 | 3 | 2.00 | 1 | corticosteroids |
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| manganese chloride | increases abundance, increases expression, affects cotreatment | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Coumestrol | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gallic Acid | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E1LC | HyCyte HT-29 KO-hDCAF4 | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.