DCAF12

Summary

DCAF12 (DDB1 and CUL4 associated factor 12, HGNC:19911) is a protein-coding gene on chromosome 9p13.3, encoding DDB1- and CUL4-associated factor 12 (Q5T6F0). Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradatio….

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzing cullin-Nedd8 conjugates.

Source: NCBI Gene 25853 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_015397

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19911
Approved symbol	DCAF12
Name	DDB1 and CUL4 associated factor 12
Location	9p13.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434O125, MGC1058, CT102, TCC52
Ensembl gene	ENSG00000198876
Ensembl biotype	protein_coding
OMIM	620087
Entrez	25853

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000361264, ENST00000396990, ENST00000450964, ENST00000463286, ENST00000466402, ENST00000879614, ENST00000911965, ENST00000954259

RefSeq mRNA: 1 — MANE Select: NM_015397 NM_015397

CCDS: CCDS6549

Canonical transcript exons

ENST00000361264 — 9 exons

Exon	Start	End
ENSE00000928098	34106434	34106494
ENSE00001047596	34107359	34107565
ENSE00001152417	34126354	34126698
ENSE00001656761	34096716	34096781
ENSE00001660669	34086387	34088508
ENSE00001695475	34093286	34093448
ENSE00002142782	34098324	34098517
ENSE00003496172	34089412	34089590
ENSE00003563029	34125023	34125277

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 72.5619 / max 10693.4917, expressed in 1815 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
100488	57.8836	1803
100487	12.2186	1768
100489	1.7694	916
100486	0.6903	362

Top tissues by expression

255 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
trabecular bone tissue	UBERON:0002483	98.35	gold quality
blood	UBERON:0000178	96.60	gold quality
adrenal tissue	UBERON:0018303	94.87	gold quality
monocyte	CL:0000576	94.62	gold quality
nasal cavity epithelium	UBERON:0005384	94.60	gold quality
bone marrow cell	CL:0002092	94.33	gold quality
leukocyte	CL:0000738	94.27	gold quality
bone marrow	UBERON:0002371	94.10	gold quality
gingiva	UBERON:0001828	93.64	gold quality
esophagus squamous epithelium	UBERON:0006920	93.59	gold quality
gingival epithelium	UBERON:0001949	93.57	gold quality
ileal mucosa	UBERON:0000331	92.82	gold quality
testis	UBERON:0000473	92.72	gold quality
lower esophagus mucosa	UBERON:0035834	92.69	gold quality
right testis	UBERON:0004534	92.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	92.38	gold quality
left testis	UBERON:0004533	92.38	gold quality
parotid gland	UBERON:0001831	92.37	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.34	gold quality
kidney epithelium	UBERON:0004819	92.12	silver quality
islet of Langerhans	UBERON:0000006	92.02	gold quality
left ventricle myocardium	UBERON:0006566	91.88	silver quality
amniotic fluid	UBERON:0000173	91.87	gold quality
adrenal gland	UBERON:0002369	91.77	gold quality
pharyngeal mucosa	UBERON:0000355	91.73	gold quality
left adrenal gland	UBERON:0001234	91.63	gold quality
right adrenal gland	UBERON:0001233	91.62	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.57	gold quality
vena cava	UBERON:0004087	91.49	gold quality
right adrenal gland cortex	UBERON:0035827	91.46	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-9221	yes	27.71
E-MTAB-10042	yes	23.48
E-HCAD-9	yes	6.86
E-HCAD-10	yes	6.03
E-MTAB-9467	yes	4.96
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting DCAF12, 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-8485	100.00	77.57	4731
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 3)

• Of the classifier’s 11 informative genes, expression of MIR and WDR40 showed statistically significant increases for both Grade 1B and Grade >or=3A rejection. (PMID:18096478)
• TCC52, as a novel CT antigen, would be a promising candidate for cancer immunotherapy. (PMID:18957058)
• CRL4-DCAF12 Ubiquitin Ligase Controls MOV10 RNA Helicase during Spermatogenesis and T Cell Activation. (PMID:34065512)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcaf12	ENSDARG00000063155
mus_musculus	Dcaf12	ENSMUSG00000028436
rattus_norvegicus	Dcaf12	ENSRNOG00000050790

Paralogs (2): DCAF12L2 (ENSG00000198354), DCAF12L1 (ENSG00000198889)

Protein

Protein identifiers

DDB1- and CUL4-associated factor 12 — Q5T6F0 (reviewed: Q5T6F0)

Alternative names: Centrosome-related protein TCC52, Testis cancer centrosome-related protein, WD repeat-containing protein 40A

All UniProt accessions (3): Q5T6F0, X6RBJ8, X6RL26

UniProt curated annotations — full annotation on UniProt →

Function. Substrate-recognition component of a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation. The C-degron recognized by the DesCEND pathway is usually a motif of less than ten residues and can be present in full-length proteins, truncated proteins or proteolytically cleaved forms. The DCX(DCAF12) complex specifically recognizes proteins with a diglutamate (Glu-Glu) at the C-terminus, such as MAGEA3, MAGEA6 and CCT5, leading to their ubiquitination and degradation. Ubiquitination of MAGEA3, MAGEA6 by DCX(DCAF12) complex is required for starvation-induced autophagy. Also directly recognizes the C-terminal glutamate-leucine (Glu-Leu) degron as an alternative degron in proteins such as MOV10, leading to their ubiquitination and degradation. Controls the protein level of MOV10 during spermatogenesis and in T cells, especially after their activation.

Subunit / interactions. Component of the DCX(DCAF12) E3 ubiquitin ligase complex, at least composed of CUL4 (CUL4A or CUL4B), DDB1, DCAF12 and RBX1.

Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Nucleus.

Tissue specificity. Highly expressed in lung cancer tissues and some cancer cell lines. Restricted expression in normal testis.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the WD repeat DCAF12 family.

RefSeq proteins (1): NP_056212* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051191	DCAF12	Family
IPR056151	Beta-prop_DCAF12	Domain

Pfam: PF23760

UniProt features (57 total): strand 29, helix 7, turn 7, repeat 6, region of interest 2, chain 1, modified residue 1, sequence variant 1, mutagenesis site 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
8AJM	ELECTRON MICROSCOPY	2.83
3I7P	X-RAY DIFFRACTION	3
8AJN	ELECTRON MICROSCOPY	3
8T9A	ELECTRON MICROSCOPY	3.17
8AJO	ELECTRON MICROSCOPY	30.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T6F0-F1	84.40	0.67

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 15

Mutagenesis-validated functional residues (1):

Position	Phenotype
368	reduces association with ddb1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 166 (showing top): GOBP_REGULATION_OF_AUTOPHAGY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, chr9p13, GOCC_CENTROSOME, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DOUGLAS_BMI1_TARGETS_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_UP, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CUL4_RING_E3_UBIQUITIN_LIGASE_COMPLEX

GO Biological Process (6): regulation of autophagy (GO:0010506), protein ubiquitination (GO:0016567), T cell activation (GO:0042110), ubiquitin-dependent protein catabolic process via the C-end degron rule pathway (GO:0140627), spermatogenesis (GO:0007283), miRNA-mediated gene silencing by mRNA destabilization (GO:0035279)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), centrosome (GO:0005813), cytosol (GO:0005829), Cul4-RING E3 ubiquitin ligase complex (GO:0080008), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
autophagy	1
regulation of catabolic process	1
protein modification by small protein conjugation	1
lymphocyte activation	1
proteasome-mediated ubiquitin-dependent protein catabolic process	1
developmental process involved in reproduction	1
male gamete generation	1
miRNA-mediated post-transcriptional gene silencing	1
mRNA destabilization	1
enzyme-substrate adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
centriole	1
microtubule organizing center	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAF12	DCAF4	Q8WV16	610
DCAF12	CUL4A	Q13619	607
DCAF12	DCAF5	Q96JK2	563
DCAF12	DDB1	Q16531	552
DCAF12	RNF113B	Q8IZP6	542
DCAF12	DCAF6	Q58WW2	513
DCAF12	STRADB	Q9C0K7	507
DCAF12	DCAF11	Q8TEB1	467
DCAF12	SELENBP1	Q13228	462
DCAF12	WDR37	Q9Y2I8	457
DCAF12	D6RGC4	D6RGC4	450
DCAF12	DIP2C	Q9Y2E4	444
DCAF12	UBAP2	Q5T6F2	441
DCAF12	DDB2	Q92466	422
DCAF12	UBXN6	Q9BZV1	421

IntAct

34 interactions, top by confidence:

A	B	Type	Score
CUL4B	COPS2	psi-mi:“MI:0914”(association)	0.790
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
CUL4A	COPS2	psi-mi:“MI:0914”(association)	0.640
PDCL3	PEX7	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
DDB1	DCAF12	psi-mi:“MI:0407”(direct interaction)	0.590
DCAF12	GOLIM4	psi-mi:“MI:0914”(association)	0.530
PFDN2	CDC40	psi-mi:“MI:0914”(association)	0.530
DCAF12	BIRC2	psi-mi:“MI:0914”(association)	0.530
Ddb1	PHGDH	psi-mi:“MI:0915”(physical association)	0.400
Ddb1	COPS6	psi-mi:“MI:0914”(association)	0.350
CUL4A	HAX1	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
CCT3	C6orf11	psi-mi:“MI:0914”(association)	0.350
CCT7	C6orf11	psi-mi:“MI:0914”(association)	0.350
PFDN2	EYA4	psi-mi:“MI:0914”(association)	0.350
DCAF12		psi-mi:“MI:0914”(association)	0.350
DDB1	POLRMT	psi-mi:“MI:0914”(association)	0.350
VPS35	KIF2A	psi-mi:“MI:0914”(association)	0.350
CCT2	WDR91	psi-mi:“MI:0914”(association)	0.350
CCT5	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CCT3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
SHARPIN	ZNF609	psi-mi:“MI:0914”(association)	0.350
CCT7	WDR46	psi-mi:“MI:0914”(association)	0.350

BioGRID (232): DDB1 (Affinity Capture-Western), DCAF12 (Affinity Capture-MS), DCAF12 (Affinity Capture-MS), DCAF12 (Affinity Capture-MS), DCAF12 (Affinity Capture-MS), TUBA3C (Affinity Capture-MS), MCMBP (Affinity Capture-MS), GOLIM4 (Affinity Capture-MS), XIAP (Affinity Capture-MS), BIRC2 (Affinity Capture-MS), BIRC6 (Affinity Capture-MS), YY1AP1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), MOV10 (Affinity Capture-MS), DCAF12 (Affinity Capture-MS)

ESM2 similar proteins: A2AKB9, A2RRH5, A2RRU4, A2SXS5, A6QM06, O60346, O88559, P30291, P97260, Q08BB3, Q0P5I0, Q12770, Q3B7L5, Q3MHH0, Q3UHE1, Q4R3J7, Q5E9I8, Q5FW06, Q5M9G8, Q5MNU5, Q5QP82, Q5R7H5, Q5T6F0, Q5VW00, Q5ZJL7, Q63ZP7, Q69Z89, Q6AX81, Q6GQT6, Q6NS60, Q6NWH1, Q6P809, Q6ZWB6, Q8AVS9, Q8BGW4, Q8BGZ3, Q8CHE4, Q8NHY2, Q8QZS3, Q8TEB1

Diamond homologs: Q08BB3, Q3MHH0, Q4R3J7, Q5F3R7, Q5T6F0, Q5VU92, Q5VW00, Q63ZP7, Q6AX81, Q6P809, Q8BGW4, Q8BGZ3, Q8CBW4, Q9VGE3, Q9AV81

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
DCAF12	“down-regulates quantity by destabilization”	MAGEA3	binding
DCAF12	“down-regulates quantity by destabilization”	MAGEA6	binding
DCAF12	“up-regulates activity”	Cullin4-RBX1-DDB1	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 34 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
Prefoldin mediated transfer of substrate to CCT/TriC	6	87.5×	7e-09
Formation of tubulin folding intermediates by CCT/TriC	5	78.3×	1e-07
Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	5	75.5×	1e-07
DNA Damage Recognition in GG-NER	6	63.4×	3e-08
Chaperonin-mediated protein folding	5	55.6×	5e-07
Protein folding	5	48.1×	1e-06
Formation of TC-NER Pre-Incision Complex	6	47.0×	1e-07
Organelle biogenesis and maintenance	5	12.2×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein folding	7	23.4×	1e-06
protein stabilization	6	12.9×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

75 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1552 predictions. Top by Δscore:

Variant	Effect	Δscore
9:34088504:TGATT:T	acceptor_gain	1.0000
9:34088507:TT:T	acceptor_gain	1.0000
9:34088509:C:CC	acceptor_gain	1.0000
9:34089375:A:AC	donor_gain	1.0000
9:34089376:C:CC	donor_gain	1.0000
9:34089407:CGCA:C	donor_gain	1.0000
9:34089447:C:CA	donor_gain	1.0000
9:34089448:C:A	donor_gain	1.0000
9:34089465:TGG:T	donor_gain	1.0000
9:34089494:T:TA	donor_gain	1.0000
9:34089588:TTC:T	acceptor_gain	1.0000
9:34089589:TC:T	acceptor_gain	1.0000
9:34089590:CC:C	acceptor_gain	1.0000
9:34089591:C:CC	acceptor_gain	1.0000
9:34089592:T:A	acceptor_loss	1.0000
9:34093285:CCA:C	donor_gain	1.0000
9:34098320:ATAC:A	donor_loss	1.0000
9:34098322:ACCTT:A	donor_loss	1.0000
9:34098323:C:A	donor_loss	1.0000
9:34098527:C:CT	acceptor_gain	1.0000
9:34106504:C:CT	acceptor_gain	1.0000
9:34106514:C:CT	acceptor_gain	1.0000
9:34106515:A:T	acceptor_gain	1.0000
9:34106517:G:GC	acceptor_gain	1.0000
9:34106520:C:CT	acceptor_gain	1.0000
9:34106521:A:T	acceptor_gain	1.0000
9:34107352:AACTT:A	donor_loss	1.0000
9:34107353:ACTTA:A	donor_loss	1.0000
9:34107354:CTTAC:C	donor_loss	1.0000
9:34107355:TTACA:T	donor_loss	1.0000

AlphaMissense

2928 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:34088358:A:G	W452R	1.000
9:34088358:A:T	W452R	1.000
9:34088363:C:T	G450E	1.000
9:34088364:C:A	G450W	1.000
9:34088366:G:T	A449D	1.000
9:34088375:C:A	G446V	1.000
9:34088375:C:T	G446E	1.000
9:34088376:C:G	G446R	1.000
9:34088376:C:T	G446R	1.000
9:34088381:A:G	L444P	1.000
9:34088393:A:T	L440H	1.000
9:34088396:G:T	P439H	1.000
9:34088397:G:A	P439S	1.000
9:34088397:G:T	P439T	1.000
9:34088399:C:A	G438V	1.000
9:34088399:C:T	G438D	1.000
9:34088400:C:A	G438C	1.000
9:34088400:C:G	G438R	1.000
9:34088400:C:T	G438S	1.000
9:34088402:C:A	G437V	1.000
9:34088402:C:T	G437E	1.000
9:34088403:C:G	G437R	1.000
9:34088403:C:T	G437R	1.000
9:34088405:G:T	A436E	1.000
9:34088411:A:G	F434S	1.000
9:34088414:A:G	L433P	1.000
9:34088414:A:T	L433H	1.000
9:34088448:A:C	Y422D	1.000
9:34088448:A:G	Y422H	1.000
9:34088450:A:T	V421D	1.000

dbSNP variants (sampled 300 via entrez): RS1000004023 (9:34099265 C>A), RS1000056595 (9:34099522 G>A), RS1000108798 (9:34103231 G>A,T), RS1000132983 (9:34109921 T>C), RS1000308158 (9:34111535 A>G), RS1000442007 (9:34121461 G>A), RS1000581533 (9:34110588 C>G), RS1000587011 (9:34105226 C>G,T), RS1000643818 (9:34109978 A>C), RS1000696243 (9:34110232 C>A), RS1000757040 (9:34115630 G>A), RS1000841255 (9:34120801 G>T), RS1000858300 (9:34098933 AT>A,ATT), RS1000893621 (9:34120552 T>A,G), RS1000967827 (9:34104325 T>C)

Disease associations

OMIM: gene MIM:620087 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000372_14	Height	2.000000e-06
GCST004608_148	Granulocyte percentage of myeloid white cells	8.000000e-10
GCST004633_83	Neutrophil percentage of white cells	2.000000e-09
GCST006719_7	BRCA1/2-negative high-risk breast cancer	2.000000e-06
GCST007344_91	Estimated glomerular filtration rate	4.000000e-08
GCST007876_109	Estimated glomerular filtration rate	2.000000e-08
GCST010002_319	Refractive error	4.000000e-13
GCST011494_44	Daytime nap	3.000000e-10
GCST90002390_386	Mean corpuscular hemoglobin	2.000000e-21
GCST90002393_373	Monocyte count	5.000000e-24
GCST90002394_295	Monocyte percentage of white cells	4.000000e-22
GCST90002399_76	Neutrophil percentage of white cells	1.000000e-15
GCST90002401_478	Platelet distribution width	4.000000e-09
GCST90011898_119	Alanine aminotransferase levels	3.000000e-09
GCST90011900_214	Serum alkaline phosphatase levels	3.000000e-14
GCST90013405_150	Liver enzyme levels (alanine transaminase)	1.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0007997	granulocyte percentage of myeloid white cells
EFO:0007990	neutrophil percentage of leukocytes
EFO:0009443	BRCAX breast cancer
EFO:0007828	daytime rest measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0005091	monocyte count
EFO:0007989	monocyte percentage of leukocytes
EFO:0007984	platelet component distribution width
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression, increases expression	3
Tobacco Smoke Pollution	decreases methylation, increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
FR900359	increases phosphorylation	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
coumarin	increases phosphorylation	1
methacrylaldehyde	increases abundance, affects cotreatment, increases oxidation	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Atrazine	decreases expression	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Chlorpyrifos	decreases response to substance	1
Ozone	affects cotreatment, increases oxidation, increases abundance	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Cadmium Chloride	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases oxidation	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1PU	Abcam HeLa DCAF12 KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.