WDR43

Summary

WDR43 (WD repeat domain 43, HGNC:28945) is a protein-coding gene on chromosome 2p23.2, encoding WD repeat-containing protein 43 (Q15061). Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Enables RNA binding activity. Involved in positive regulation of rRNA processing; positive regulation of transcription by RNA polymerase I; and ribosomal small subunit biogenesis. Located in fibrillar center. Part of small-subunit processome.

Source: NCBI Gene 23160 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 122 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_015131

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28945
Approved symbol	WDR43
Name	WD repeat domain 43
Location	2p23.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0007, NET12, UTP5
Ensembl gene	ENSG00000163811
Ensembl biotype	protein_coding
OMIM	616195
Entrez	23160

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000296126, ENST00000407426, ENST00000434238, ENST00000440983, ENST00000446643, ENST00000466067, ENST00000866549, ENST00000866550, ENST00000866551, ENST00000866552, ENST00000924449, ENST00000947492, ENST00000947493

RefSeq mRNA: 1 — MANE Select: NM_015131 NM_015131

CCDS: CCDS46251

Canonical transcript exons

ENST00000407426 — 18 exons

Exon	Start	End
ENSE00001078499	28935521	28935607
ENSE00001078503	28942312	28942381
ENSE00001078509	28946450	28946499
ENSE00001078511	28936922	28936953
ENSE00001078516	28937931	28937994
ENSE00001078517	28941461	28941574
ENSE00001154989	28924982	28925153
ENSE00001154993	28922919	28922983
ENSE00001154999	28917893	28917995
ENSE00001155005	28914069	28914208
ENSE00001178451	28946600	28948219
ENSE00001554108	28894667	28894923
ENSE00003493364	28926468	28926554
ENSE00003510199	28927569	28927700
ENSE00003573415	28901987	28902124
ENSE00003615873	28912590	28912710
ENSE00003618024	28906460	28906581
ENSE00003661964	28929579	28929710

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 98.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 50.9724 / max 327.0438, expressed in 1818 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19501	49.7110	1818
19500	0.6406	333
19505	0.4388	214
19504	0.1820	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.78	gold quality
calcaneal tendon	UBERON:0003701	95.67	gold quality
adrenal tissue	UBERON:0018303	94.03	gold quality
colonic epithelium	UBERON:0000397	93.74	gold quality
tendon	UBERON:0000043	92.61	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.72	gold quality
stromal cell of endometrium	CL:0002255	91.59	gold quality
islet of Langerhans	UBERON:0000006	91.21	gold quality
gastrocnemius	UBERON:0001388	90.12	gold quality
sural nerve	UBERON:0015488	90.11	gold quality
skin of abdomen	UBERON:0001416	89.73	gold quality
tendon of biceps brachii	UBERON:0008188	89.53	gold quality
muscle of leg	UBERON:0001383	89.48	gold quality
ventricular zone	UBERON:0003053	89.31	gold quality
pancreas	UBERON:0001264	89.23	gold quality
skin of leg	UBERON:0001511	88.88	gold quality
zone of skin	UBERON:0000014	88.40	gold quality
body of pancreas	UBERON:0001150	88.38	gold quality
left uterine tube	UBERON:0001303	87.90	gold quality
rectum	UBERON:0001052	87.72	gold quality
omental fat pad	UBERON:0010414	87.58	gold quality
peritoneum	UBERON:0002358	87.57	gold quality
esophagus mucosa	UBERON:0002469	87.57	gold quality
adipose tissue of abdominal region	UBERON:0007808	87.49	gold quality
tonsil	UBERON:0002372	87.30	gold quality
skeletal muscle organ	UBERON:0014892	87.17	gold quality
muscle organ	UBERON:0001630	87.16	gold quality
vagina	UBERON:0000996	87.09	gold quality
cortical plate	UBERON:0005343	87.09	gold quality
ectocervix	UBERON:0012249	86.85	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	1175.98
E-ENAD-21	yes	746.07
E-CURD-112	yes	8.53
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

121 targeting WDR43, 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-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-513A-5P	100.00	69.77	2465
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-9-5P	100.00	72.28	2361
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
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-3148	99.97	75.06	6478
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-4725-3P	99.96	69.53	2520

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 2)

• RNA targets ribogenesis Factor WDR43 to chromatin for transcription and pluripotency control. (PMID:31128943)
• WD repeat domain 43 as a new predictive indicator and its connection with tumor immune cell infiltration in pan-cancer. (PMID:39093744)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr43	ENSDARG00000077264
mus_musculus	Wdr43	ENSMUSG00000041057
rattus_norvegicus	Wdr43	ENSRNOG00000026316

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), DAW1 (ENSG00000123977), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

WD repeat-containing protein 43 — Q15061 (reviewed: Q15061)

Alternative names: U3 small nucleolar RNA-associated protein 5 homolog

All UniProt accessions (4): C9IZK7, C9JEE7, C9JH61, Q15061

UniProt curated annotations — full annotation on UniProt →

Function. Ribosome biogenesis factor that coordinates hyperactive transcription and ribogenesis. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted degradation of pre-ribosomal RNA by the RNA exosome. Involved in nucleolar processing of pre-18S ribosomal RNA. Required for optimal pre-ribosomal RNA transcription by RNA polymerase I. Essential for stem cell pluripotency and embryonic development. In the nucleoplasm, recruited by promoter-associated/nascent transcripts and transcription to active promoters where it facilitates releases of elongation factor P-TEFb and paused RNA polymerase II to allow transcription elongation and maintain high-level expression of its targets genes.

Subunit / interactions. Part of the small subunit (SSU) processome, composed of more than 70 proteins and the RNA chaperone small nucleolar RNA (snoRNA) U3. May be a component of the proposed t-UTP subcomplex of the ribosomal small subunit (SSU) processome containing at least UTP4, WDR43, HEATR1, UTP15, WDR75. Binds to RNA; binding is required for its chromatin association. Interacts with CDK9, DDX21 and SUPT6H. Interacts with RNA polymerase II. Interacts directly with UTP4 and UTP15.

Subcellular location. Nucleus. Nucleolus. Nucleolus fibrillar center. Nucleoplasm.

Domain organisation. N-terminal domain is required for nucleoplasm location and C-terminal domain for nucleolus location.

Similarity. Belongs to the UTP5 family.

RefSeq proteins (1): NP_055946* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR007148	SSU_processome_Utp12	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR052414	U3_snoRNA-assoc_WDR	Family

Pfam: PF00400, PF04003

UniProt features (26 total): modified residue 9, repeat 6, compositionally biased region 4, cross-link 4, region of interest 2, chain 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7MQA	ELECTRON MICROSCOPY	2.7
7MQ8	ELECTRON MICROSCOPY	3.6
7MQ9	ELECTRON MICROSCOPY	3.87

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15061-F1	70.03	0.19

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 (13): 77, 321, 394, 399, 431, 437, 590, 656, 658, 309, 309, 384, 384

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6790901	rRNA modification in the nucleus and cytosol
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol

MSigDB gene sets: 254 (showing top): TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, MORF_UBE2N, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, FOSTER_TOLERANT_MACROPHAGE_UP, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, LASTOWSKA_COAMPLIFIED_WITH_MYCN, GOBP_MAINTENANCE_OF_CELL_NUMBER, GOBP_REGULATION_OF_STEM_CELL_POPULATION_MAINTENANCE

GO Biological Process (9): maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462), regulation of transcription elongation by RNA polymerase II (GO:0034243), ribosomal small subunit biogenesis (GO:0042274), positive regulation of transcription by RNA polymerase I (GO:0045943), regulation of stem cell population maintenance (GO:2000036), positive regulation of rRNA processing (GO:2000234), regulation of DNA-templated transcription (GO:0006355), rRNA processing (GO:0006364), ribosome biogenesis (GO:0042254)

GO Molecular Function (4): RNA polymerase II complex binding (GO:0000993), transcription elongation factor activity (GO:0003711), RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), fibrillar center (GO:0001650), nucleoplasm (GO:0005654), nucleolus (GO:0005730), small-subunit processome (GO:0032040), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
ribonucleoprotein complex biogenesis	2
ribosome biogenesis	2
nucleolus	2
nuclear lumen	2
maturation of SSU-rRNA	1
transcription elongation by RNA polymerase II	1
regulation of DNA-templated transcription elongation	1
regulation of transcription by RNA polymerase I	1
transcription by RNA polymerase I	1
positive regulation of DNA-templated transcription	1
stem cell population maintenance	1
regulation of developmental process	1
regulation of multicellular organismal process	1
rRNA processing	1
positive regulation of RNA metabolic process	1
regulation of rRNA processing	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
RNA processing	1
rRNA metabolic process	1
RNA polymerase core enzyme binding	1
transcription regulator activity	1
nucleic acid binding	1
binding	1
chromosome	1
intracellular membraneless organelle	1
preribosome	1
t-UTP complex	1
nuclear protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1963 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR43	UTP4	Q969X6	984
WDR43	UTP15	Q8TED0	982
WDR43	HEATR1	Q9H583	974
WDR43	WDR75	Q8IWA0	935
WDR43	PWP2	Q15269	815
WDR43	NOL11	Q9H8H0	760
WDR43	UTP18	Q9Y5J1	759
WDR43	TBL3	Q12788	715
WDR43	MPHOSPH10	O00566	709
WDR43	MYBBP1A	Q9BQG0	699
WDR43	UTP6	Q9NYH9	688
WDR43	WDR36	Q8NI36	672
WDR43	RRP7A	Q9Y3A4	671
WDR43	WDR12	Q9GZL7	645
WDR43	NOL6	Q9H6R4	643

IntAct

77 interactions, top by confidence:

A	B	Type	Score
UTP4	WDR43	psi-mi:“MI:0407”(direct interaction)	0.860
UTP4	WDR43	psi-mi:“MI:0914”(association)	0.860
C1D	ZFC3H1	psi-mi:“MI:0914”(association)	0.640
EXOSC5	ZFC3H1	psi-mi:“MI:0914”(association)	0.640
EXOSC3	MTREX	psi-mi:“MI:0914”(association)	0.640
NOL7	WDR43	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
GID8	HTRA2	psi-mi:“MI:0914”(association)	0.610
WDR43	UTP15	psi-mi:“MI:0407”(direct interaction)	0.590
NOL11	WDR43	psi-mi:“MI:0914”(association)	0.530
WDR75	WDR43	psi-mi:“MI:0914”(association)	0.530
FBL	ZNF316	psi-mi:“MI:0914”(association)	0.530
UTP4	ANKRD28	psi-mi:“MI:0914”(association)	0.530
RBM4	NVL	psi-mi:“MI:0914”(association)	0.530
WDR43	WDR75	psi-mi:“MI:0914”(association)	0.530
NOL7	IPO5	psi-mi:“MI:0914”(association)	0.530
MPHOSPH6	ZFC3H1	psi-mi:“MI:0914”(association)	0.530
Snu13		psi-mi:“MI:0915”(physical association)	0.400
Ccdc9	ACIN1	psi-mi:“MI:0914”(association)	0.350
MAPK3		psi-mi:“MI:0914”(association)	0.350
CERK	WDR46	psi-mi:“MI:0914”(association)	0.350
JUN		psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
UTP4	MASP1	psi-mi:“MI:0914”(association)	0.350
RRP1B	ZNF785	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
FBL	GXYLT2	psi-mi:“MI:0914”(association)	0.350
NOL7	IPO5	psi-mi:“MI:0914”(association)	0.350

BioGRID (165): WDR43 (Affinity Capture-RNA), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), NAP1L1 (Co-fractionation), WDR43 (Co-fractionation), WDR43 (Co-fractionation), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS), WDR43 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8HX76, A0JP70, A4IG72, A7E3S5, A7Z052, D3ZW91, E9PY46, P57081, Q05B17, Q0P5H9, Q15061, Q32P44, Q3SZD4, Q3U821, Q499N3, Q4VBE8, Q5BK48, Q5F3K4, Q5RB07, Q5RBH8, Q5RD06, Q5XFW6, Q68EI0, Q6DFC6, Q6KAU8, Q6PFM9, Q6PGF3, Q6ZQL4, Q7ZVF0, Q7ZVR1, Q7ZY78, Q8BH57, Q8C5V5, Q8IWA0, Q8N0Z6, Q8NA23, Q8NAA4, Q8VC03, Q969R8, Q96KV7

Diamond homologs: A0CH87, A0DB19, B3MRC6, B4JWS7, C5FWH1, D4AZ50, D4DG66, O14727, O88879, P41838, P49026, Q13685, Q15061, Q5RCG7, Q6L4F8, Q6PBY0, Q7YR70, Q9EPV5, Q9GL23, Q9I9H8, Q6ZQL4, Q9LFE2, A0JPH4, A1CF18, A1CQI9, A1CUD6, A1D3F5, A1DP19, A2QPZ4, A2RRU4, A4R3M4, A6H603, A6QM06, A7EKM8, A9UZS7, B0XM00, B0XQ42, B2AEZ5, B2B766, B6HP56

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
WDR43	“form complex”	“UTP-A complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 101 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
Nuclear RNA decay	7	33.2×	2e-07
rRNA modification in the nucleus and cytosol	10	28.8×	3e-10
Major pathway of rRNA processing in the nucleolus and cytosol	18	17.1×	4e-15
rRNA processing in the nucleus and cytosol	5	12.4×	5e-03
rRNA processing	5	11.3×	6e-03
Metabolism of RNA	10	6.4×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
maturation of SSU-rRNA	5	42.6×	2e-05
ribosomal small subunit biogenesis	11	27.8×	5e-11
rRNA processing	15	23.6×	4e-14
RNA processing	6	14.6×	5e-04
regulation of alternative mRNA splicing, via spliceosome	5	13.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	77
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2644 predictions. Top by Δscore:

Variant	Effect	Δscore
2:28894922:AGG:A	donor_loss	1.0000
2:28894923:GGT:G	donor_loss	1.0000
2:28894924:G:GC	donor_loss	1.0000
2:28894925:T:A	donor_loss	1.0000
2:28902027:GAA:G	donor_gain	1.0000
2:28902068:G:GG	donor_gain	1.0000
2:28902103:A:T	donor_gain	1.0000
2:28902125:G:GG	donor_gain	1.0000
2:28906579:GTG:G	donor_gain	1.0000
2:28912583:A:AG	acceptor_gain	1.0000
2:28912584:A:G	acceptor_gain	1.0000
2:28912588:A:AG	acceptor_gain	1.0000
2:28912589:G:GG	acceptor_gain	1.0000
2:28912709:GG:G	donor_gain	1.0000
2:28912709:GGG:G	donor_loss	1.0000
2:28912710:GG:G	donor_gain	1.0000
2:28912710:GGT:G	donor_loss	1.0000
2:28912711:G:C	donor_loss	1.0000
2:28912712:T:G	donor_loss	1.0000
2:28914067:A:AG	acceptor_gain	1.0000
2:28914068:G:GA	acceptor_gain	1.0000
2:28914068:GC:G	acceptor_gain	1.0000
2:28914068:GCA:G	acceptor_gain	1.0000
2:28914068:GCAT:G	acceptor_gain	1.0000
2:28914068:GCATT:G	acceptor_gain	1.0000
2:28914204:GTCTG:G	donor_gain	1.0000
2:28914206:CTGGT:C	donor_loss	1.0000
2:28914207:TGGTA:T	donor_loss	1.0000
2:28914208:GG:G	donor_loss	1.0000
2:28914209:GT:G	donor_loss	1.0000

AlphaMissense

4449 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:28906523:A:C	S143R	1.000
2:28906525:T:A	S143R	1.000
2:28906525:T:G	S143R	1.000
2:28894897:T:A	W67R	0.999
2:28894897:T:C	W67R	0.999
2:28906553:T:A	W153R	0.999
2:28906553:T:C	W153R	0.999
2:28912594:T:A	W164R	0.999
2:28912594:T:C	W164R	0.999
2:28912596:G:C	W164C	0.999
2:28912596:G:T	W164C	0.999
2:28912655:T:C	L184P	0.999
2:28912681:T:A	W193R	0.999
2:28912681:T:C	W193R	0.999
2:28914094:T:A	V211D	0.999
2:28914175:C:A	S238Y	0.999
2:28914175:C:T	S238F	0.999
2:28914207:T:A	W249R	0.999
2:28914207:T:C	W249R	0.999
2:28936923:T:C	L509P	0.999
2:28937950:T:A	W526R	0.999
2:28937950:T:C	W526R	0.999
2:28937952:G:C	W526C	0.999
2:28937952:G:T	W526C	0.999
2:28894787:C:A	A30D	0.998
2:28894899:G:C	W67C	0.998
2:28894899:G:T	W67C	0.998
2:28902054:C:A	A98D	0.998
2:28902060:G:A	G100D	0.998
2:28906482:T:A	V129D	0.998

dbSNP variants (sampled 300 via entrez): RS1000052079 (2:28928124 T>C,G), RS1000056693 (2:28921971 A>C,G), RS1000105066 (2:28894627 C>T), RS1000151953 (2:28911546 G>A,C), RS1000235934 (2:28939602 T>C), RS1000245706 (2:28900427 C>G,T), RS1000287638 (2:28927867 T>A), RS1000312068 (2:28940474 C>T), RS1000329138 (2:28933157 T>C), RS1000408548 (2:28900183 G>T), RS1000453509 (2:28917765 A>G,T), RS1000486868 (2:28921376 T>C), RS1000515031 (2:28916243 A>G), RS1000656991 (2:28936196 A>C), RS1000717537 (2:28939853 A>G)

Disease associations

OMIM: gene MIM:616195 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003842_20	Breast cancer (estrogen-receptor negative)	3.000000e-06
GCST003845_21	Breast cancer	5.000000e-09
GCST005076_5	Breast cancer (estrogen-receptor negative)	2.000000e-09
GCST011369_6	Iron status biomarkers (ferritin levels)	9.000000e-16

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004459	ferritin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression	3
sodium arsenite	affects methylation, decreases expression	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Estradiol	increases expression	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
deoxynivalenol	increases expression	1
decabromobiphenyl ether	decreases expression	1
trichostatin A	affects expression	1
tetrabromobisphenol A	decreases expression	1
coumarin	affects phosphorylation	1
cylindrospermopsin	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
deguelin	increases expression	1
mesotrione	affects methylation, increases abundance	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	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_1536	NCI-H2171	Cancer cell line	Male

Clinical trials (associated diseases)

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