DCAF6

Summary

DCAF6 (DDB1 and CUL4 associated factor 6, HGNC:30002) is a protein-coding gene on chromosome 1q24.2, encoding DDB1- and CUL4-associated factor 6 (Q58WW2). Ligand-dependent coactivator of nuclear receptors.

The protein encoded by this gene is a ligand-dependent coactivator of nuclear receptors, including nuclear receptor subfamily 3 group C member 1 (NR3C1), glucocorticoid receptor (GR), and androgen receptor (AR). The encoded protein and DNA damage binding protein 2 (DDB2) may act as tumor promoters and tumor suppressors, respectively, by regulating the level of androgen receptor in prostate tissues. In addition, this protein can act with glucocorticoid receptor to promote human papillomavirus gene expression.

Source: NCBI Gene 55827 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 171 total — 1 pathogenic
• MANE Select transcript: NM_001198956

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30002
Approved symbol	DCAF6
Name	DDB1 and CUL4 associated factor 6
Location	1q24.2
Locus type	gene with protein product
Status	Approved
Aliases	PC326
Ensembl gene	ENSG00000143164
Ensembl biotype	protein_coding
OMIM	610494
Entrez	55827

Gene structure

Transcript identifiers

Ensembl transcripts: 73 — 65 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000312263, ENST00000367840, ENST00000367843, ENST00000432587, ENST00000450548, ENST00000455334, ENST00000460432, ENST00000470721, ENST00000470919, ENST00000478668, ENST00000489398, ENST00000491067, ENST00000856039, ENST00000856040, ENST00000856041, ENST00000856042, ENST00000856043, ENST00000856044, ENST00000856045, ENST00000856046, ENST00000856047, ENST00000856048, ENST00000856049, ENST00000856050, ENST00000856051, ENST00000856052, ENST00000856053, ENST00000856054, ENST00000856055, ENST00000856056, ENST00000856057, ENST00000856058, ENST00000856059, ENST00000856060, ENST00000856061, ENST00000856062, ENST00000856063, ENST00000856064, ENST00000856065, ENST00000856066, ENST00000856067, ENST00000856068, ENST00000856069, ENST00000856070, ENST00000856071, ENST00000856072, ENST00000856073, ENST00000936293, ENST00000943254, ENST00000943255, ENST00000943256, ENST00000943257, ENST00000943258, ENST00000943259, ENST00000943260, ENST00000943261, ENST00000943262, ENST00000943263, ENST00000943264, ENST00000943265, ENST00000943266, ENST00000943267, ENST00000943268, ENST00000943269, ENST00000943270, ENST00000943271, ENST00000943272, ENST00000943273, ENST00000943274, ENST00000943275, ENST00000943276, ENST00000943277, ENST00000943278

RefSeq mRNA: 14 — MANE Select: NM_001198956 NM_001017977, NM_001198956, NM_001198957, NM_001349773, NM_001349774, NM_001349775, NM_001349776, NM_001349777, NM_001349778, NM_001349779, NM_001349780, NM_001393650, NM_001393651, NM_018442

CCDS: CCDS1267, CCDS30933, CCDS55657, CCDS55658

Canonical transcript exons

ENST00000367840 — 22 exons

Exon	Start	End
ENSE00001194148	168015781	168015951
ENSE00001334820	168050892	168050933
ENSE00001759288	167936683	167937008
ENSE00002233826	168003870	168003989
ENSE00002243092	168043025	168043140
ENSE00002260174	168066377	168066465
ENSE00002267090	168004533	168004793
ENSE00002268533	168022988	168023047
ENSE00002281009	168038371	168038488
ENSE00002283133	168002482	168002575
ENSE00002315145	167993226	167993440
ENSE00003461048	167966629	167966721
ENSE00003483198	167987495	167987608
ENSE00003535677	167951800	167951861
ENSE00003538581	167974830	167975015
ENSE00003543622	168068358	168068463
ENSE00003585955	168065590	168065746
ENSE00003588582	168063621	168063759
ENSE00003639171	168044585	168044671
ENSE00003669384	168044900	168045227
ENSE00003691147	167991204	167991339
ENSE00003922679	168075371	168075836

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 99.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.2924 / max 619.4691, expressed in 1824 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
6463	41.5371	1824
6464	0.7054	382
6468	0.0273	3
6467	0.0125	3
6469	0.0060	3
6466	0.0040	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.58	gold quality
gastrocnemius	UBERON:0001388	99.20	gold quality
biceps brachii	UBERON:0001507	99.14	gold quality
muscle of leg	UBERON:0001383	99.11	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.10	gold quality
vastus lateralis	UBERON:0001379	99.08	gold quality
muscle organ	UBERON:0001630	99.08	gold quality
skeletal muscle organ	UBERON:0014892	99.08	gold quality
quadriceps femoris	UBERON:0001377	99.01	gold quality
skeletal muscle tissue	UBERON:0001134	98.98	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.91	gold quality
sperm	CL:0000019	98.89	gold quality
gluteal muscle	UBERON:0002000	98.89	gold quality
body of tongue	UBERON:0011876	98.66	gold quality
deltoid	UBERON:0001476	98.65	gold quality
triceps brachii	UBERON:0001509	98.56	gold quality
tibialis anterior	UBERON:0001385	98.44	gold quality
male germ cell	CL:0000015	98.20	gold quality
muscle tissue	UBERON:0002385	98.12	gold quality
heart right ventricle	UBERON:0002080	97.89	gold quality
right atrium auricular region	UBERON:0006631	97.36	gold quality
cardiac ventricle	UBERON:0002082	97.35	gold quality
heart left ventricle	UBERON:0002084	97.35	gold quality
diaphragm	UBERON:0001103	97.29	gold quality
cardiac atrium	UBERON:0002081	97.26	gold quality
right testis	UBERON:0004534	97.06	gold quality
left testis	UBERON:0004533	96.98	gold quality
heart	UBERON:0000948	96.88	gold quality
calcaneal tendon	UBERON:0003701	96.86	gold quality
apex of heart	UBERON:0002098	96.76	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	57.53
E-MTAB-9543	yes	56.21
E-ANND-3	yes	8.44
E-MTAB-7381	no	334.50
E-MTAB-6058	no	210.89

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, SP1

miRNA regulators (miRDB)

64 targeting DCAF6, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778

Literature-anchored findings (GeneRIF, showing 10)

• NRIP interacts with either androgen or glucocorticoid receptors (PMID:15784617)
• NRIP plays a feed-forward role enhancing androgen receptor (AR)-driven NRIP promoter activity via NRIP forming a complex with AR to protect AR protein from proteasome degradation. (PMID:17984071)
• A survey results showed that ten cancer cases were revealed to express the NRIP in six malignancies, but not all of these specific tumor types consistently showed positive NRIP expression. (PMID:18673574)
• NRIP enhances HPV 16 gene expression via interaction with either GR or viral E2. (PMID:22177699)
• High IQWD1 expression is associated with breast cancer. (PMID:24222117)
• Data show that circular RNA circ-DCAF6 (DDB1 and CUL4 associated factor 6) exerts oncogenic properties by downregulating miR-1231 and miR-1256. (PMID:31226266)
• Circ_DCAF6 potentiates cell stemness and growth in breast cancer through GLI1-Hedgehog pathway. (PMID:32668286)
• Autoantibody of NRIP, a novel AChR-interacting protein, plays a detrimental role in myasthenia gravis. (PMID:33773096)
• The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration. (PMID:36688959)
• Identification of circular RNA-Dcaf6 as a therapeutic target for optic nerve crush-induced RGC degeneration. (PMID:38163571)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcaf6	ENSDARG00000078311
mus_musculus	Dcaf6	ENSMUSG00000026571
rattus_norvegicus	Dcaf6	ENSRNOG00000003078

Paralogs (5): DCAF8 (ENSG00000132716), DCAF5 (ENSG00000139990), WDTC1 (ENSG00000142784), DCAF8L2 (ENSG00000189186), DCAF8L1 (ENSG00000226372)

Protein

Protein identifiers

DDB1- and CUL4-associated factor 6 — Q58WW2 (reviewed: Q58WW2)

Alternative names: Androgen receptor complex-associated protein, IQ motif and WD repeat-containing protein 1, Nuclear receptor interaction protein

All UniProt accessions (2): Q58WW2, F2Z305

UniProt curated annotations — full annotation on UniProt →

Function. Ligand-dependent coactivator of nuclear receptors. Enhance transcriptional activity of the nuclear receptors NR3C1 and AR. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Subunit / interactions. Interacts with the nuclear receptors NR3C1 and AR in the presence of ligand. Interacts with DDB1, CUL4A and CUL4B.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in skeletal muscle and testis. Expressed to a lesser degree in heart, prostate, and adrenal gland.

Pathway. Protein modification; protein ubiquitination.

Isoforms (4)

UniProt ID	Names	Canonical?
Q58WW2-1	1	yes
Q58WW2-2	2
Q58WW2-3	3
Q58WW2-4	4

RefSeq proteins (14): NP_001017977, NP_001185885, NP_001185886, NP_001336702, NP_001336703, NP_001336704, NP_001336705, NP_001336706, NP_001336707, NP_001336708, NP_001336709, NP_001380579, NP_001380580, NP_060912 (=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
IPR045151	DCAF8	Family

Pfam: PF00400

UniProt features (36 total): compositionally biased region 11, repeat 7, modified residue 6, region of interest 4, splice variant 4, chain 1, sequence variant 1, helix 1, domain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3I7O	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q58WW2-F1	64.23	0.37

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 (6): 336, 649, 654, 657, 847, 850

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8951664	Neddylation

MSigDB gene sets: 158 (showing top): TATTATA_MIR374, TTGCWCAAY_CEBPB_02, CEBPB_01, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOCC_TRANSFERASE_COMPLEX, GOCC_CUL4_RING_E3_UBIQUITIN_LIGASE_COMPLEX, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, BLALOCK_ALZHEIMERS_DISEASE_DN, GOCC_UBIQUITIN_LIGASE_COMPLEX, HNF4ALPHA_Q6

GO Biological Process (2): protein ubiquitination (GO:0016567), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), 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
cellular anatomical structure	3
positive regulation of DNA-templated transcription	2
protein modification by small protein conjugation	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
transcription coregulator activity	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

840 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCAF6	NR3C1	P04150	752
DCAF6	NRIP1	P48552	724
DCAF6	AR	P10275	605
DCAF6	HDAC2	Q92769	589
DCAF6	HDAC1	Q13547	586
DCAF6	DCAF4	Q8WV16	551
DCAF6	DCAF12	Q5T6F0	513
DCAF6	DDB2	Q92466	510
DCAF6	DDB1	Q16531	506
DCAF6	CALM1	P02593	495
DCAF6	CALML6	Q8TD86	494
DCAF6	CALML3	P27482	494
DCAF6	CALML4	Q96GE6	494
DCAF6	CALML5	Q9NZT1	494
DCAF6	CUL4A	Q13619	469

IntAct

117 interactions, top by confidence:

A	B	Type	Score
PCGF2	CBX4	psi-mi:“MI:0914”(association)	0.840
CUL4B	COPS2	psi-mi:“MI:0914”(association)	0.790
PAAT	CLTC	psi-mi:“MI:0914”(association)	0.740
COPS6	RHOBTB1	psi-mi:“MI:0914”(association)	0.730
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
CUL4A	COPS2	psi-mi:“MI:0914”(association)	0.640
YAF2	E2F6	psi-mi:“MI:0914”(association)	0.640
DNAJB1	DNAJB5	psi-mi:“MI:0914”(association)	0.640
SRP14	PPM1G	psi-mi:“MI:0914”(association)	0.640
DDB1	DCAF6	psi-mi:“MI:0407”(direct interaction)	0.590
DCAF6	MDFI	psi-mi:“MI:0915”(physical association)	0.560
MAGEA4	MAGEB16	psi-mi:“MI:0914”(association)	0.530
PIH1D1	POLR3A	psi-mi:“MI:0914”(association)	0.530
GALNS	CLGN	psi-mi:“MI:0914”(association)	0.530
PNOC	CETN3	psi-mi:“MI:0914”(association)	0.530
MAGEA1	MAGEB3	psi-mi:“MI:0914”(association)	0.530
BMP15	AMD1	psi-mi:“MI:0914”(association)	0.530
DAB2	FCHO2	psi-mi:“MI:0914”(association)	0.530
GPS1	PXDNL	psi-mi:“MI:0914”(association)	0.530
PFDN1	ARHGAP32	psi-mi:“MI:0914”(association)	0.530
CDK4	GUSB	psi-mi:“MI:0914”(association)	0.530
GALNS	FBXO21	psi-mi:“MI:0914”(association)	0.530
MAGEA4	MAGEA8	psi-mi:“MI:0914”(association)	0.530

BioGRID (379): DCAF6 (Two-hybrid), DCAF6 (Two-hybrid), DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), DCAF6 (Affinity Capture-RNA), DCAF6 (Affinity Capture-RNA), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8GLK3, A0A974CYQ5, A2AHJ4, A5WW08, D2HNY3, D2HWM5, E7F6T8, F1ND48, O15040, O70260, O95071, P59328, Q3TLR7, Q4V837, Q58DC2, Q58WW2, Q5E9J6, Q5F479, Q5FWP4, Q5NVC7, Q5R9B8, Q5RF77, Q5RGA4, Q5RHI5, Q5ZLG9, Q62671, Q66JG1, Q6DDH2, Q6P1W0, Q6P256, Q6PCD5, Q6PJI9, Q6RI45, Q80TP3, Q80U93, Q810L3, Q8C0M0, Q8CBW4, Q8CIK8, Q8CIN9

Diamond homologs: A8X8C6, B6QC56, B8N9H4, C0S902, C1GB49, C5FWH1, C5GVJ9, C5JD40, C5PFX0, F1LTR1, O42937, O74184, O74309, P14197, P20484, P25569, P61964, P61965, P87314, P90794, Q17963, Q23256, Q28D01, Q2KIG2, Q2UGU1, Q498M4, Q4P4R3, Q4V8C4, Q54H44, Q54KL5, Q58WW2, Q5M786, Q5R9B8, Q5RE95, Q5SP67, Q7K0L4, Q7ZXK9, Q80ZK9, Q86VZ2, Q8C6G8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 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	9	27.1×	2e-08
Formation of TC-NER Pre-Incision Complex	9	20.0×	2e-07
Late endosomal microautophagy	5	17.2×	1e-03
Cargo recognition for clathrin-mediated endocytosis	10	11.0×	5e-06
Cellular Senescence	6	8.7×	7e-03
Neddylation	11	5.5×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
regulation of protein neddylation	5	36.3×	9e-05
protein neddylation	5	27.2×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	122
Likely benign	12
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2756741	NM_018417.6(ADCY10):c.697dup (p.Cys233fs)	Pathogenic

SpliceAI

3850 predictions. Top by Δscore:

Variant	Effect	Δscore
1:167951795:AACAG:A	acceptor_loss	1.0000
1:167951797:CAG:C	acceptor_loss	1.0000
1:167951798:A:C	acceptor_loss	1.0000
1:167951799:G:A	acceptor_loss	1.0000
1:167951857:GTTGT:G	donor_gain	1.0000
1:167951860:GT:G	donor_gain	1.0000
1:167974825:TTTA:T	acceptor_loss	1.0000
1:167974826:TTA:T	acceptor_loss	1.0000
1:167974828:A:AC	acceptor_loss	1.0000
1:167974828:A:AG	acceptor_gain	1.0000
1:167974828:AG:A	acceptor_gain	1.0000
1:167974829:G:A	acceptor_loss	1.0000
1:167974829:G:GT	acceptor_gain	1.0000
1:167974829:GG:G	acceptor_gain	1.0000
1:167974829:GGT:G	acceptor_gain	1.0000
1:167974829:GGTT:G	acceptor_gain	1.0000
1:167974829:GGTTT:G	acceptor_gain	1.0000
1:167975012:TGAG:T	donor_loss	1.0000
1:167975013:GAGG:G	donor_loss	1.0000
1:167975014:AG:A	donor_loss	1.0000
1:167975015:GG:G	donor_loss	1.0000
1:167975016:G:A	donor_loss	1.0000
1:167987536:T:TA	acceptor_gain	1.0000
1:167987604:AAGAT:A	donor_gain	1.0000
1:167987605:AGAT:A	donor_gain	1.0000
1:167987606:GATG:G	donor_gain	1.0000
1:167987608:TG:T	donor_loss	1.0000
1:167987609:G:GA	donor_loss	1.0000
1:167987609:G:GG	donor_gain	1.0000
1:167991198:TTGTA:T	acceptor_loss	1.0000

AlphaMissense

6229 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:167951842:T:C	L47P	1.000
1:167951856:G:C	G52R	1.000
1:167951857:G:A	G52D	1.000
1:167951859:T:C	C53R	1.000
1:167951860:G:A	C53Y	1.000
1:167951861:T:G	C53W	1.000
1:167966630:T:A	V54D	1.000
1:167966632:A:C	N55H	1.000
1:167966632:A:G	N55D	1.000
1:167966633:A:T	N55I	1.000
1:167966634:T:A	N55K	1.000
1:167966634:T:G	N55K	1.000
1:167966644:T:A	W59R	1.000
1:167966644:T:C	W59R	1.000
1:167966645:G:C	W59S	1.000
1:167966646:G:C	W59C	1.000
1:167966646:G:T	W59C	1.000
1:167966657:G:T	G63V	1.000
1:167966666:T:A	I66N	1.000
1:167966671:T:C	S68P	1.000
1:167966674:G:C	G69R	1.000
1:167966675:G:A	G69D	1.000
1:167966677:T:C	S70P	1.000
1:167966680:G:C	D71H	1.000
1:167966680:G:T	D71Y	1.000
1:167966681:A:C	D71A	1.000
1:167966681:A:G	D71G	1.000
1:167966681:A:T	D71V	1.000
1:167966682:T:A	D71E	1.000
1:167966682:T:G	D71E	1.000

dbSNP variants (sampled 300 via entrez): RS1000000072 (1:168062673 TA>T), RS1000010148 (1:167910092 G>T), RS1000018411 (1:168000113 C>T), RS1000024035 (1:167867244 G>A), RS1000027657 (1:168026832 T>C), RS1000056004 (1:167952501 C>G), RS1000063971 (1:167933099 A>G), RS1000075287 (1:168048527 A>G), RS1000089911 (1:167901732 A>G,T), RS1000091021 (1:167978536 AT>A), RS1000096445 (1:168075518 G>A), RS1000115878 (1:167882943 G>T), RS1000116422 (1:168057120 C>T), RS1000139599 (1:167866881 C>T), RS1000164158 (1:167915915 A>G)

Disease associations

OMIM: gene MIM:610494 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001301_1	Schizophrenia	1.000000e-08
GCST008476_31	Emphysema annual change measurement in smokers (percent low attenuation area)	7.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007626	emphysema imaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
Acetaminophen	decreases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
lead acetate	decreases expression	1
decabromobiphenyl ether	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cupric chloride	decreases expression	1
coumarin	increases phosphorylation	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
14-deoxy-11,12-didehydroandrographolide	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Leflunomide	decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Arsenicals	increases methylation	1
Cadmium	decreases expression	1
Caffeine	decreases phosphorylation	1
Phenobarbital	affects expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Dihydrotestosterone	increases expression	1
Tetrachlorodibenzodioxin	increases expression	1

Clinical trials (associated diseases)

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