WDR82

Summary

WDR82 (WD repeat domain 82, HGNC:28826) is a protein-coding gene on chromosome 3p21.2, encoding WD repeat-containing protein 82 (Q6UXN9). Regulatory component of the SET1/COMPASS complex implicated in the tethering of this complex to transcriptional start sites of active genes.

TMEM113 (WDR82) is a component of the mammalian SET1A (MIM 611052)/SET1B (MIM 611055) histone H3-Lys4 methyltransferase complexes (Lee and Skalnik, 2005 [PubMed 16253997]; Lee et al., 2007 [PubMed 17355966]).

Source: NCBI Gene 80335 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 25 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_025222

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28826
Approved symbol	WDR82
Name	WD repeat domain 82
Location	3p21.2
Locus type	gene with protein product
Status	Approved
Aliases	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2
Ensembl gene	ENSG00000164091
Ensembl biotype	protein_coding
OMIM	611059
Entrez	80335

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 retained_intron

ENST00000296490, ENST00000463624, ENST00000469000, ENST00000487402, ENST00000880775, ENST00000931364

RefSeq mRNA: 1 — MANE Select: NM_025222 NM_025222

CCDS: CCDS2851

Canonical transcript exons

ENST00000296490 — 9 exons

Exon	Start	End
ENSE00001125334	52254434	52257519
ENSE00001498298	52278201	52278649
ENSE00003525194	52260385	52260501
ENSE00003528540	52259717	52259872
ENSE00003574607	52270712	52270809
ENSE00003597954	52261380	52261479
ENSE00003629114	52266952	52267018
ENSE00003684787	52259197	52259266
ENSE00003692990	52258536	52258678

Expression profiles

Bgee: expression breadth ubiquitous, 298 present calls, max score 98.43.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.1311 / max 44.3196, expressed in 1557 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42413	62.5591	1822
42412	3.1311	1557

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	98.43	gold quality
Brodmann (1909) area 23	UBERON:0013554	98.27	gold quality
middle temporal gyrus	UBERON:0002771	97.93	gold quality
endothelial cell	CL:0000115	97.64	silver quality
seminal vesicle	UBERON:0000998	97.59	gold quality
ganglionic eminence	UBERON:0004023	97.59	gold quality
skin of hip	UBERON:0001554	97.53	gold quality
gingival epithelium	UBERON:0001949	97.43	gold quality
mammalian vulva	UBERON:0000997	97.35	gold quality
penis	UBERON:0000989	97.23	gold quality
pigmented layer of retina	UBERON:0001782	97.19	gold quality
retina	UBERON:0000966	97.16	gold quality
adult organism	UBERON:0007023	97.14	gold quality
urethra	UBERON:0000057	97.11	gold quality
gingiva	UBERON:0001828	97.08	gold quality
ventricular zone	UBERON:0003053	97.08	gold quality
CA1 field of hippocampus	UBERON:0003881	97.05	gold quality
upper leg skin	UBERON:0004262	97.03	gold quality
embryo	UBERON:0000922	96.97	gold quality
mammary duct	UBERON:0001765	96.89	gold quality
amniotic fluid	UBERON:0000173	96.86	gold quality
vena cava	UBERON:0004087	96.81	gold quality
nipple	UBERON:0002030	96.77	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	96.72	gold quality
choroid plexus epithelium	UBERON:0003911	96.69	gold quality
cervix squamous epithelium	UBERON:0006922	96.66	silver quality
endometrium	UBERON:0001295	96.63	gold quality
epithelium of mammary gland	UBERON:0003244	96.63	gold quality
synovial joint	UBERON:0002217	96.62	gold quality
entorhinal cortex	UBERON:0002728	96.62	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.70
E-GEOD-110499	no	459.84

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): YY1

miRNA regulators (miRDB)

195 targeting WDR82, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-4487	99.96	64.58	1252

Literature-anchored findings (GeneRIF, showing 8)

• suggest a model for how the mammalian RNA polymerase II machinery is linked with histone H3-Lys4 histone methyltransferase complexes at transcriptionally active genes (PMID:17998332)
• Data show that Wdr82, which associates with chromatin in a histone H2B ubiquitination-dependent manner, is a specific component of Set1 complexes but not that of MLL1-4 complexes. (PMID:18838538)
• mammalian Wdr82 functions in a variety of cellular processes; PTW/PP1 phosphatase complex (PNUTS, Tox4, Wdr82, PP1) has a role in the regulation of chromatin structure during the transition from mitosis into interphase (PMID:20516061)
• these findings demonstrate that WDR82 is a negative regulator of virus-triggered type I IFNs pathway through mediating TRAF3 polyubiquitination status and stability on mitochondria. (PMID:26519536)
• A first exon termination checkpoint preferentially suppresses extragenic transcription. (PMID:33767452)
• By making a stoichiometric complex with the RNA-binding protein ZC3H4, WDR82 controls termination of extragenic transcription in human and mouse cells. Cells depleted of the WDR82-ZC3H4 complex show greatly enhanced synthesis of long and spliced extragenic transcripts. (PMID:33767452)
• ZWC complex-mediated SPT5 phosphorylation suppresses divergent antisense RNA transcription at active gene promoters. (PMID:35325203)
• Molecular insight into the SETD1A/B N-terminal region and its interaction with WDR82. (PMID:37030068)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr82	ENSDARG00000014083
mus_musculus	Wdr82	ENSMUSG00000020257
rattus_norvegicus	Wdr82	ENSRNOG00000048441
drosophila_melanogaster	Wdr82	FBGN0032030
caenorhabditis_elegans		WBGENE00016373
caenorhabditis_elegans		WBGENE00016374

Protein

Protein identifiers

WD repeat-containing protein 82 — Q6UXN9 (reviewed: Q6UXN9)

All UniProt accessions (2): Q6UXN9, C9JBU3

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory component of the SET1/COMPASS complex implicated in the tethering of this complex to transcriptional start sites of active genes. Facilitates histone H3 ‘Lys-4’ methylation (H3K4me) via recruitment of the SETD1A or SETD1B to the ‘Ser-5’ phosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Component of the PNUTS-PP1 protein phosphatase complex, a protein phosphatase 1 (PP1) complex that promotes RNA polymerase II transcription pause-release, allowing transcription elongation. PNUTS-PP1 also plays a role in the control of chromatin structure and cell cycle progression during the transition from mitosis into interphase. Together with ZC3H4, but independently of the SET1 complex, part of a transcription termination checkpoint that promotes transcription termination of long non-coding RNAs (lncRNAs). The transcription termination checkpoint is activated by the inefficiently spliced first exon of lncRNAs and promotes transcription termination of lncRNAs and their subsequent degradation by the exosome.

Subunit / interactions. Component of the SET1/COMPASS complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82, RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Component of the PNUTS-PP1 phosphatase complex, composed of PPP1R10/PNUTS, TOX4, WDR82, and PPP1CA or PPP1CB or PPP1CC. Associated with multiple protein complexes including an RNA polymerase II complex, MLL3/MLL4 complex and a chaperonin-containing TCP1 complex. Interacts with SETD1B (via N-terminal region); the interaction is direct. Interacts with SETD1A (via N-terminal region); the interaction is direct. Interacts with CUL4B. Interacts with RBBP5. Interacts with POLR2B. Interacts with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II large subunit (POLR2A). Binds specifically to CTD heptad repeats phosphorylated on ‘Ser-5’ of each heptad. SETD1A enhances its interaction with POLR2A. Interacts with PPP1R10/PNUTS. Interacts with PPP1CA in the presence of PPP1R10/PNUTS. Interacts with ZC3H4; interaction is independent of the SET1 complex and promotes transcription termination of long non-coding RNAs (lncRNAs).

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Similarity. Belongs to the WD repeat SWD2 family.

RefSeq proteins (1): NP_079498* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR037867	Swd2/WDR82	Family

Pfam: PF00400

UniProt features (7 total): repeat 6, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXN9-F1	95.98	0.95

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9772755	Formation of WDR5-containing histone-modifying complexes
R-HSA-9930044	Nuclear RNA decay

MSigDB gene sets: 202 (showing top): GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, TGACCTY_ERR1_Q2, BROWNE_HCMV_INFECTION_12HR_UP, GOBP_RNA_SURVEILLANCE, HNF4_01, ARGGGTTAA_UNKNOWN, IRF_Q6, TATA_C, MAF_Q6, TIEN_INTESTINE_PROBIOTICS_24HR_UP

GO Biological Process (9): RNA polymerase II promoter clearance (GO:0001111), DNA-templated transcription termination (GO:0006353), negative regulation of DNA-templated transcription, elongation (GO:0032785), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), nuclear RNA surveillance (GO:0071027), lncRNA catabolic process (GO:0110064), negative regulation of lncRNA transcription (GO:0140744), gene expression (GO:0010467), RNA metabolic process (GO:0016070)

GO Molecular Function (3): chromatin binding (GO:0003682), lncRNA binding (GO:0106222), protein binding (GO:0005515)

GO Cellular Component (10): chromatin (GO:0000785), nucleoplasm (GO:0005654), nucleolus (GO:0005730), histone methyltransferase complex (GO:0035097), Set1C/COMPASS complex (GO:0048188), PTW/PP1 phosphatase complex (GO:0072357), chromosome, telomeric region (GO:0000781), nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Epigenetic regulation by WDR5-containing histone modifying complexes	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
negative regulation of DNA-templated transcription	2
binding	2
nuclear lumen	2
intracellular membraneless organelle	2
promoter clearance during DNA-templated transcription	1
transcription by RNA polymerase II	1
DNA-templated transcription	1
RNA biosynthetic process	1
DNA-templated transcription elongation	1
regulation of DNA-templated transcription elongation	1
transcription elongation by RNA polymerase II	1
positive regulation of DNA-templated transcription, elongation	1
regulation of transcription elongation by RNA polymerase II	1
positive regulation of transcription by RNA polymerase II	1
nucleus	1
RNA surveillance	1
RNA catabolic process	1
lncRNA transcription	1
regulation of lncRNA transcription	1
macromolecule biosynthetic process	1
nucleic acid metabolic process	1
RNA binding	1
chromosome	1
nucleoplasm	1
methyltransferase complex	1
nuclear protein-containing complex	1
histone methyltransferase complex	1
protein phosphatase type 1 complex	1
chromosomal region	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2354 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR82	SETD1A	O15047	999
WDR82	CXXC1	Q9P0U4	999
WDR82	RBBP5	Q15291	998
WDR82	SETD1B	Q9UPS6	997
WDR82	ASH2L	Q9UBL3	996
WDR82	SDC1	P18827	989
WDR82	WDR5	P61964	989
WDR82	SSU72	Q9NP77	980
WDR82	EEF1A1	P04719	928
WDR82	RNF20	Q5VTR2	901
WDR82	TOX4	O94842	882
WDR82	DPY30	Q9C005	879
WDR82	HCFC1	P51610	834
WDR82	H3-7	Q5TEC6	808
WDR82	H3-5	Q6NXT2	808

IntAct

81 interactions, top by confidence:

A	B	Type	Score
SETD1A	WDR5	psi-mi:“MI:0914”(association)	0.880
CXXC1	SETD1A	psi-mi:“MI:0914”(association)	0.760
ASH2L	SETD1A	psi-mi:“MI:0914”(association)	0.760
PPP1CB	CCDC85C	psi-mi:“MI:0914”(association)	0.750
PPP1CB	CCDC85C	psi-mi:“MI:2364”(proximity)	0.750
PPP1CC	CCDC85C	psi-mi:“MI:0914”(association)	0.740
PPP1CC	CCDC85C	psi-mi:“MI:2364”(proximity)	0.740
CUL4B	CUL4A	psi-mi:“MI:0914”(association)	0.730
WDR5	MEN1	psi-mi:“MI:0914”(association)	0.710
PPP1CA	CCDC85C	psi-mi:“MI:0914”(association)	0.670
PPP1CA	CCDC85C	psi-mi:“MI:2364”(proximity)	0.670
SF3B1	SAP18	psi-mi:“MI:0914”(association)	0.640
TOX4	PPP1CA	psi-mi:“MI:0914”(association)	0.570
Ppp1r10	TOX4	psi-mi:“MI:0914”(association)	0.560
WDR82	SETD1A	psi-mi:“MI:0914”(association)	0.530
SUPT5H	POLR2D	psi-mi:“MI:0914”(association)	0.530
TP53	SETD1A	psi-mi:“MI:0914”(association)	0.530
OGT	SETD1A	psi-mi:“MI:0914”(association)	0.530
CPSF6	DDX39A	psi-mi:“MI:0914”(association)	0.480
Ppp1r10	PPP1CA	psi-mi:“MI:0915”(physical association)	0.400
NAGK	WDR82	psi-mi:“MI:0915”(physical association)	0.370
WDR82	OSGEP	psi-mi:“MI:0915”(physical association)	0.370
Cxxc1	HCFC1	psi-mi:“MI:0914”(association)	0.350
Tox4	MED14	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (526): WDR82 (Affinity Capture-MS), WDR82 (Affinity Capture-Western), WDR82 (Affinity Capture-Western), CXXC1 (Affinity Capture-Western), ASH2L (Affinity Capture-Western), RBBP5 (Affinity Capture-Western), WDR5 (Affinity Capture-Western), SETD1A (Affinity Capture-Western), SETD1B (Affinity Capture-Western), DPY30 (Affinity Capture-Western), WDR82 (Affinity Capture-Western), WDR82 (Affinity Capture-Western), WDR82 (Reconstituted Complex), WDR82 (Affinity Capture-Western), WDR82 (Reconstituted Complex)

ESM2 similar proteins: A7YY75, C1BK83, O60907, O89050, P17427, P18484, P61962, P61963, P97834, Q05048, Q08211, Q1JP79, Q28141, Q28D01, Q4FZW5, Q4R8H1, Q58E77, Q5BJQ6, Q5R874, Q5R8K2, Q5RAN6, Q5RB35, Q5U4Y8, Q5ZHN3, Q5ZMV7, Q640J6, Q6GL39, Q6GNF1, Q6GPC6, Q6NV31, Q6TGU2, Q6UXN9, Q7SZM9, Q8BFQ4, Q8BHJ5, Q8C6G8, Q8R2U0, Q92747, Q96EE3, Q99LC2

Diamond homologs: A0CH87, A0DB19, A1CF18, A1CUD6, A1DP19, A2QP30, A4R3M4, A7EKM8, A7S338, A8NEG8, A9V790, B0LSW3, B0XM00, B2AEZ5, B2B766, B2VWG7, B3MEY6, B3NPW0, B3S4I5, B4GAJ1, B4HSL3, B4JWA1, B4KT48, B4LQ21, B4MY65, B4P6P9, B4QHG6, B5X3C4, B5X3Z6, B6GZD3, B6HP56, B6K1G6, B6QC06, B6QC56, B7PS00, B8M0Q1, B8N9H4, B8P4B0, B8PD53, C0NRC6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 98 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
Formation of WDR5-containing histone-modifying complexes	7	24.5×	2e-06
mRNA Polyadenylation	13	15.0×	1e-09
TP53 Regulates Transcription of DNA Repair Genes	6	14.3×	2e-04
mRNA Splicing	9	13.0×	3e-06
Processing of Capped Intron-Containing Pre-mRNA	11	11.9×	3e-07
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	6	11.6×	6e-04
mRNA Splicing - Major Pathway	14	10.1×	2e-08
Formation of the beta-catenin:TCF transactivating complex	6	9.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
transcription initiation-coupled chromatin remodeling	6	25.5×	5e-05
positive regulation of transcription elongation by RNA polymerase II	5	16.7×	1e-03
circadian regulation of gene expression	5	13.0×	3e-03
mRNA splicing, via spliceosome	11	11.2×	3e-06
RNA splicing	7	6.9×	5e-03
mRNA processing	7	6.1×	8e-03
cell division	9	4.6×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	13
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1030 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52259189:AAACT:A	donor_loss	1.0000
3:52259190:AACTC:A	donor_loss	1.0000
3:52259191:ACTCA:A	donor_loss	1.0000
3:52259192:CTCAC:C	donor_loss	1.0000
3:52259193:T:TA	donor_loss	1.0000
3:52259194:C:CG	donor_loss	1.0000
3:52259195:A:AC	donor_gain	1.0000
3:52259196:C:CC	donor_gain	1.0000
3:52259196:CCAAT:C	donor_gain	1.0000
3:52259262:TAACC:T	acceptor_gain	1.0000
3:52259264:ACCC:A	acceptor_loss	1.0000
3:52259265:CC:C	acceptor_gain	1.0000
3:52259266:CC:C	acceptor_gain	1.0000
3:52259266:CCTAA:C	acceptor_loss	1.0000
3:52259267:C:CC	acceptor_gain	1.0000
3:52259267:CTAA:C	acceptor_loss	1.0000
3:52259268:T:A	acceptor_loss	1.0000
3:52259711:GCTCA:G	donor_loss	1.0000
3:52259712:CTCAC:C	donor_loss	1.0000
3:52259713:TCACC:T	donor_loss	1.0000
3:52259714:CA:C	donor_loss	1.0000
3:52259715:A:AC	donor_gain	1.0000
3:52259715:A:C	donor_loss	1.0000
3:52259715:AC:A	donor_gain	1.0000
3:52259715:ACC:A	donor_gain	1.0000
3:52259716:C:CC	donor_gain	1.0000
3:52259716:CC:C	donor_gain	1.0000
3:52259716:CCC:C	donor_gain	1.0000
3:52259730:A:AC	donor_gain	1.0000
3:52259739:C:CA	donor_gain	1.0000

AlphaMissense

2104 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52258551:A:C	S299R	1.000
3:52258551:A:T	S299R	1.000
3:52258553:T:G	S299R	1.000
3:52259787:A:G	L210P	1.000
3:52259810:G:C	F202L	1.000
3:52259810:G:T	F202L	1.000
3:52259812:A:G	F202L	1.000
3:52259827:A:G	W197R	1.000
3:52259827:A:T	W197R	1.000
3:52259864:A:C	F184L	1.000
3:52259864:A:T	F184L	1.000
3:52259866:A:G	F184L	1.000
3:52260410:A:G	L173P	1.000
3:52260440:G:T	A163D	1.000
3:52260453:C:A	G159W	1.000
3:52260453:C:G	G159R	1.000
3:52260453:C:T	G159R	1.000
3:52261404:C:A	W134C	1.000
3:52261404:C:G	W134C	1.000
3:52261405:C:G	W134S	1.000
3:52261406:A:G	W134R	1.000
3:52261406:A:T	W134R	1.000
3:52261411:C:G	R132P	1.000
3:52261435:G:A	S124F	1.000
3:52261435:G:T	S124Y	1.000
3:52261436:A:G	S124P	1.000
3:52267009:C:G	R90P	1.000
3:52267010:G:T	R90S	1.000
3:52270735:A:T	V79D	1.000
3:52270738:A:T	V78D	1.000

dbSNP variants (sampled 300 via entrez): RS1000282813 (3:52275102 T>A,C), RS1000388354 (3:52268659 T>C), RS1000412275 (3:52258344 T>C), RS1000512221 (3:52263487 T>C), RS1000528596 (3:52255394 C>G,T), RS1000564446 (3:52265868 C>G,T), RS1000669474 (3:52272306 G>A), RS1000720068 (3:52272067 G>A,C), RS1000829173 (3:52278644 G>A), RS1001281141 (3:52278066 G>A,C), RS1001395795 (3:52275952 TGGG>T,TGGGG), RS1001444557 (3:52275754 T>C), RS1001635631 (3:52258056 C>T), RS1001687191 (3:52269707 G>A,T), RS1001731953 (3:52262156 AAAGATCAG>A)

Disease associations

OMIM: gene MIM:611059 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST002149_14	Schizophrenia	1.000000e-08
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_201	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST006269_819	General cognitive ability	1.000000e-08
GCST008972_15	Urate levels	5.000000e-13
GCST012226_614	Waist circumference adjusted for body mass index	2.000000e-08
GCST012228_57	Waist-hip index	3.000000e-10
GCST012230_258	Waist-to-hip ratio adjusted for BMI	1.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004531	urate measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724608 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.33	Kd	47.11	nM	CHEMBL5653589
7.33	ED50	47.11	nM	CHEMBL5653589
6.77	Kd	169	nM	MOLIBRESIB
6.47	IC50	340	nM	MOLIBRESIB

PubChem BioAssay actives

3 with measured affinity, of 9 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149779: Binding affinity to human WDR82 incubated for 45 mins by Kinobead based pull down assay	kd	0.0471	uM
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2179152: Binding affinity against WDR82 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	kd	0.1690	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
FR900359	increases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
LDN 193189	affects cotreatment, increases expression	1
Bortezomib	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Catechin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Methapyrilene	increases methylation	1
Methyl Methanesulfonate	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	affects expression	1

ChEMBL screening assays

8 unique, capped per target: 8 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652821	Binding	Binding affinity to human WDR82 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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