WDR59

Summary

WDR59 (WD repeat domain 59, HGNC:25706) is a protein-coding gene on chromosome 16q23.1, encoding GATOR2 complex protein WDR59 (Q6PJI9). As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. It is a selective cancer dependency (DepMap: 22.6% of cell lines).

Predicted to enable signaling adaptor activity. Involved in cellular response to amino acid starvation and positive regulation of TORC1 signaling. Located in cytosol and lysosomal membrane. Part of GATOR2 complex.

Source: NCBI Gene 79726 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 184 total
• Cancer dependency (DepMap): dependent in 22.6% of screened cell lines
• MANE Select transcript: NM_030581

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25706
Approved symbol	WDR59
Name	WD repeat domain 59
Location	16q23.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12270
Ensembl gene	ENSG00000103091
Ensembl biotype	protein_coding
OMIM	617418
Entrez	79726

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 24 protein_coding, 10 retained_intron, 5 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000262144, ENST00000536050, ENST00000561717, ENST00000562331, ENST00000562371, ENST00000562539, ENST00000562854, ENST00000563111, ENST00000563381, ENST00000563797, ENST00000564859, ENST00000566924, ENST00000567018, ENST00000568323, ENST00000568462, ENST00000569183, ENST00000569229, ENST00000569421, ENST00000569549, ENST00000569788, ENST00000569968, ENST00000570070, ENST00000616369, ENST00000857980, ENST00000857981, ENST00000857982, ENST00000857983, ENST00000857984, ENST00000918556, ENST00000918557, ENST00000918558, ENST00000918559, ENST00000918560, ENST00000918561, ENST00000918562, ENST00000918563, ENST00000918564, ENST00000918565, ENST00000956302, ENST00000956303, ENST00000956304

RefSeq mRNA: 3 — MANE Select: NM_030581 NM_001324171, NM_001324172, NM_030581

CCDS: CCDS32488, CCDS82011

Canonical transcript exons

ENST00000262144 — 26 exons

Exon	Start	End
ENSE00000694723	74887683	74887755
ENSE00001106791	74909501	74909657
ENSE00001175911	74886270	74886396
ENSE00001175917	74888169	74888319
ENSE00002576941	74871362	74874444
ENSE00002626218	74984964	74985123
ENSE00003479351	74916127	74916259
ENSE00003481145	74912198	74912362
ENSE00003500788	74908908	74908977
ENSE00003503494	74885653	74885795
ENSE00003510156	74917929	74918008
ENSE00003513354	74938150	74938266
ENSE00003521815	74893679	74893812
ENSE00003542801	74956475	74956610
ENSE00003548590	74892484	74892565
ENSE00003558402	74951458	74951543
ENSE00003571571	74948519	74948556
ENSE00003571616	74909822	74909917
ENSE00003591917	74903947	74904100
ENSE00003594933	74921947	74922103
ENSE00003623143	74915870	74915994
ENSE00003626572	74923926	74924003
ENSE00003641935	74949718	74949798
ENSE00003659645	74965773	74965822
ENSE00003742904	74942738	74942826
ENSE00003789255	74889703	74889815

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 96.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.4784 / max 105.4209, expressed in 1795 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158132	12.2303	1795
158133	0.2481	107

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	96.75	gold quality
left lobe of thyroid gland	UBERON:0001120	96.59	gold quality
right uterine tube	UBERON:0001302	96.51	gold quality
thyroid gland	UBERON:0002046	96.24	gold quality
left ovary	UBERON:0002119	96.19	gold quality
tibia	UBERON:0000979	96.04	gold quality
right ovary	UBERON:0002118	95.92	gold quality
right lobe of liver	UBERON:0001114	95.90	gold quality
endocervix	UBERON:0000458	95.73	gold quality
pituitary gland	UBERON:0000007	95.38	gold quality
sural nerve	UBERON:0015488	95.33	gold quality
skin of leg	UBERON:0001511	95.29	gold quality
adenohypophysis	UBERON:0002196	95.26	gold quality
right adrenal gland cortex	UBERON:0035827	95.24	gold quality
skin of abdomen	UBERON:0001416	95.17	gold quality
ectocervix	UBERON:0012249	95.13	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.08	gold quality
cerebellar hemisphere	UBERON:0002245	95.06	gold quality
metanephros cortex	UBERON:0010533	94.97	gold quality
body of uterus	UBERON:0009853	94.96	gold quality
cerebellar cortex	UBERON:0002129	94.91	gold quality
right adrenal gland	UBERON:0001233	94.51	gold quality
lower esophagus mucosa	UBERON:0035834	94.49	gold quality
body of pancreas	UBERON:0001150	94.37	gold quality
left adrenal gland cortex	UBERON:0035825	94.32	gold quality
adrenal cortex	UBERON:0001235	94.20	gold quality
cerebellum	UBERON:0002037	94.20	gold quality
tibial nerve	UBERON:0001323	94.19	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.18	gold quality
ovary	UBERON:0000992	94.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting WDR59, 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-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
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-765	99.84	68.24	2442
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-3167	96.81	67.09	1236
HSA-MIR-4793-3P	94.87	65.85	896

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.6% of screened cell lines.

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	wdr59	ENSDARG00000088817
mus_musculus	Wdr59	ENSMUSG00000031959
rattus_norvegicus	Wdr59	ENSRNOG00000018967
drosophila_melanogaster	Wdr59	FBGN0032339

Paralogs (9): ERCC8 (ENSG00000049167), GEMIN5 (ENSG00000082516), RBBP7 (ENSG00000102054), GRWD1 (ENSG00000105447), PEX7 (ENSG00000112357), WDR77 (ENSG00000116455), WDR24 (ENSG00000127580), RBBP4 (ENSG00000162521), WDR73 (ENSG00000177082)

Protein

Protein identifiers

GATOR2 complex protein WDR59 — Q6PJI9 (reviewed: Q6PJI9)

Alternative names: WD repeat-containing protein 59

All UniProt accessions (7): Q6PJI9, B7Z7V6, H3BMH3, H3BNY4, H3BR95, H3BUE9, H3BV71

UniProt curated annotations — full annotation on UniProt →

Function. As a component of the GATOR2 complex, functions as an activator of the amino acid-sensing branch of the mTORC1 signaling pathway. The GATOR2 complex indirectly activates mTORC1 through the inhibition of the GATOR1 subcomplex. GATOR2 probably acts as an E3 ubiquitin-protein ligase toward GATOR1. In the presence of abundant amino acids, the GATOR2 complex mediates ubiquitination of the NPRL2 core component of the GATOR1 complex, leading to GATOR1 inactivation. In the absence of amino acids, GATOR2 is inhibited, activating the GATOR1 complex.

Subunit / interactions. Component of the GATOR2 subcomplex, composed of MIOS, SEC13, SEH1L, WDR24 and WDR59. The GATOR2 complex interacts with CASTOR1 and CASTOR2; the interaction is negatively regulated by arginine. The GATOR2 complex interacts with SESN1, SESN2 and SESN3; the interaction is negatively regulated by amino acids. Interacts with DDB1-CUL4A/B E3 ligase complexes.

Subcellular location. Lysosome membrane.

Activity regulation. The GATOR2 complex is negatively regulated by the upstream amino acid sensors CASTOR1 and SESN2, which sequester the GATOR2 complex in absence of amino acids. In the presence of abundant amino acids, GATOR2 is released from CASTOR1 and SESN2 and activated.

Similarity. Belongs to the WD repeat WDR59 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6PJI9-1	1	yes
Q6PJI9-2	2
Q6PJI9-3	3
Q6PJI9-4	4

RefSeq proteins (3): NP_001311100, NP_001311101, NP_085058* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR006575	RWD_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR016135	UBQ-conjugating_enzyme/RWD	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR039456	WDR59_mRING-H2-C3H3C2	Domain
IPR049566	WDR59_RTC1-like_RING_Znf	Domain
IPR049567	WDR59-like	Family

Pfam: PF00400, PF17120

UniProt features (41 total): binding site 13, repeat 8, modified residue 4, splice variant 4, mutagenesis site 3, zinc finger region 2, region of interest 2, chain 1, compositionally biased region 1, sequence variant 1, sequence conflict 1, domain 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9LWF	ELECTRON MICROSCOPY	3.41
9OTI	ELECTRON MICROSCOPY	3.5
9LVK	ELECTRON MICROSCOPY	3.59
7UHY	ELECTRON MICROSCOPY	3.66
9LVJ	ELECTRON MICROSCOPY	3.82

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6PJI9-F1	72.63	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.

Ligand- & substrate-binding residues (13): 902; 905; 914; 917; 927; 938; 943; 946; 949; 960; 964; 966 …

Post-translational modifications (4): 564, 821, 822, 830

Mutagenesis-validated functional residues (3):

Position	Phenotype
698	abolished interaction with wdr24 and assembly of the gator2 complex; when associated with 728-e–e-732.
728–732	abolished interaction with wdr24 and assembly of the gator2 complex; when associated with e-698.
924–927	impaired amino-acid-mediated mtorc1 activation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9639288	Amino acids regulate mTORC1

MSigDB gene sets: 120 (showing top): GOCC_VACUOLAR_MEMBRANE, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_CELLULAR_RESPONSE_TO_STARVATION, GOBP_TOR_SIGNALING, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_RESPONSE_TO_STARVATION, MULLIGHAN_MLL_SIGNATURE_2_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, MULLIGHAN_MLL_SIGNATURE_1_DN, GOMF_SIGNALING_ADAPTOR_ACTIVITY

GO Biological Process (5): cellular response to nutrient levels (GO:0031669), cellular response to amino acid starvation (GO:0034198), protein localization to plasma membrane (GO:0072659), negative regulation of TORC1 signaling (GO:1904262), positive regulation of TORC1 signaling (GO:1904263)

GO Molecular Function (4): zinc ion binding (GO:0008270), signaling adaptor activity (GO:0035591), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (7): lysosomal membrane (GO:0005765), vacuolar membrane (GO:0005774), cytosol (GO:0005829), Seh1-associated complex (GO:0035859), GATOR2 complex (GO:0061700), lysosome (GO:0005764), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cellular response to starvation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
TORC1 signaling	2
regulation of TORC1 signaling	2
cellular anatomical structure	2
protein-containing complex	2
response to nutrient levels	1
cellular response to stimulus	1
cellular response to starvation	1
response to amino acid starvation	1
protein localization to membrane	1
protein localization to cell periphery	1
negative regulation of TOR signaling	1
positive regulation of TOR signaling	1
transition metal ion binding	1
protein-macromolecule adaptor activity	1
binding	1
cation binding	1
lysosome	1
lytic vacuole membrane	1
vacuole	1
bounding membrane of organelle	1
cytoplasm	1
Seh1-associated complex	1
lytic vacuole	1

Protein interactions and networks

STRING

1042 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WDR59	SEH1L	Q96EE3	998
WDR59	MIOS	Q9NXC5	998
WDR59	SEC13	P55735	996
WDR59	WDR24	Q96S15	993
WDR59	NPRL2	Q8WTW4	882
WDR59	DEPDC5	O75140	858
WDR59	NPRL3	Q12980	846
WDR59	RRAGB	Q5VZM2	742
WDR59	CASTOR2	A6NHX0	729
WDR59	RRAGC	Q9HB90	703
WDR59	RRAGA	Q7L523	689
WDR59	RRAGD	Q9NQL2	685
WDR59	KICS2	Q96MD2	681
WDR59	ITFG2	Q969R8	672
WDR59	SZT2	Q5T011	656

IntAct

111 interactions, top by confidence:

A	B	Type	Score
WDR24	SESN2	psi-mi:“MI:0914”(association)	0.890
NPRL2	NPRL3	psi-mi:“MI:0914”(association)	0.850
NPRL2	NPRL3	psi-mi:“MI:0403”(colocalization)	0.850
RBBP5	KMT2D	psi-mi:“MI:0914”(association)	0.840
MIOS	SEC13	psi-mi:“MI:0914”(association)	0.790
WDR59	SEC13	psi-mi:“MI:0914”(association)	0.730
CCT2	TXNDC9	psi-mi:“MI:0914”(association)	0.730
CASTOR1	CASTOR2	psi-mi:“MI:0914”(association)	0.710
CASTOR1	WDR59	psi-mi:“MI:0915”(physical association)	0.710
WDR24	WDR59	psi-mi:“MI:0914”(association)	0.680
WDR59	SESN2	psi-mi:“MI:0914”(association)	0.640
SEC13	SEC16A	psi-mi:“MI:0914”(association)	0.640
WDR24	NPRL3	psi-mi:“MI:0914”(association)	0.600
SESN2	NPRL3	psi-mi:“MI:0914”(association)	0.530
SZT2	DEPDC5	psi-mi:“MI:0914”(association)	0.530
NPRL3	DEPDC5	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
SKP2	DPYSL4	psi-mi:“MI:0914”(association)	0.530
WDR59	EPB41L2	psi-mi:“MI:0914”(association)	0.530

BioGRID (532): WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-MS), WDR59 (Affinity Capture-Western), WDR59 (Affinity Capture-Western), WDR59 (Affinity Capture-MS), GATSL3 (Affinity Capture-Western), GATSL2 (Affinity Capture-Western), SESN2 (Affinity Capture-Western)

ESM2 similar proteins: A0A072VIM5, A0A0K0PU92, A0JM23, A2CIR7, F4IG73, F4JD14, G3LSH3, G8GTN7, O00750, O42132, O75460, O80560, P03372, P0CI65, P50241, P50242, P57717, P57753, Q0JJ01, Q29040, Q2HW56, Q2QXZ2, Q2RAQ5, Q53AD2, Q5D0W8, Q5M9H0, Q5YLM1, Q5ZLG9, Q6AZT7, Q6KAE5, Q6NLQ8, Q6PJI9, Q6WQJ1, Q7EZ44, Q7T0L6, Q7TNH6, Q7XAP4, Q7Z494, Q8C0M0, Q8CFE5

Diamond homologs: A1CF18, A6ZPA9, A7RHG8, A8IR43, B0W517, B0XAF3, B3MJV8, B3N534, B3RQN1, B4GT01, B4HWV6, B4JPT9, B4KKN1, B4LS78, B4MU54, B4P116, B4Q9T6, B5DG67, B6K1G6, B6QC06, B7PY76, C4JZS6, C4R6H3, D1ZEM6, D5GBI7, G0SA60, O14021, O35142, O35828, O48847, O54929, O55029, P40066, P41318, P53699, P57737, P61480, Q04305, Q05B17, Q0D0X6

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
WDR59	“form complex”	GATOR2	binding
Ub:E2	“up-regulates activity”	WDR59	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 112 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
Amino acids regulate mTORC1	12	32.9×	5e-13
Rev-mediated nuclear export of HIV RNA	5	21.7×	4e-04
Cellular response to starvation	8	18.1×	3e-06
SUMOylation of DNA damage response and repair proteins	5	10.0×	3e-03
Regulation of HSF1-mediated heat shock response	5	9.5×	3e-03
TP53 Regulates Metabolic Genes	5	8.9×	4e-03
Cellular responses to stress	11	5.5×	4e-04
Cellular responses to stimuli	11	4.7×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of TORC1 signaling	13	43.0×	1e-15
cellular response to amino acid starvation	11	35.7×	3e-12
cellular response to nutrient levels	5	23.9×	2e-04
positive regulation of TORC1 signaling	7	21.1×	8e-06
cellular response to glucose starvation	5	17.2×	8e-04
mRNA transport	5	13.4×	2e-03
protein stabilization	9	6.1×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	133
Likely benign	8
Benign	8

Top pathogenic / likely-pathogenic (0)

SpliceAI

5077 predictions. Top by Δscore:

Variant	Effect	Δscore
16:74885647:A:AC	donor_gain	1.0000
16:74885648:C:CC	donor_gain	1.0000
16:74885648:CTCA:C	donor_gain	1.0000
16:74885650:CAC:C	donor_loss	1.0000
16:74885651:A:AC	donor_gain	1.0000
16:74885651:A:T	donor_loss	1.0000
16:74885652:C:CA	donor_gain	1.0000
16:74885652:CCGAT:C	donor_gain	1.0000
16:74885791:GGAGC:G	acceptor_gain	1.0000
16:74885792:GAGC:G	acceptor_gain	1.0000
16:74885793:AGC:A	acceptor_gain	1.0000
16:74885794:GC:G	acceptor_gain	1.0000
16:74885795:CC:C	acceptor_gain	1.0000
16:74885796:C:CC	acceptor_gain	1.0000
16:74885796:CTGG:C	acceptor_loss	1.0000
16:74885800:A:AC	acceptor_gain	1.0000
16:74885800:A:C	acceptor_gain	1.0000
16:74886395:CG:C	acceptor_gain	1.0000
16:74886408:CAAA:C	acceptor_gain	1.0000
16:74888167:A:AC	donor_gain	1.0000
16:74888168:C:CC	donor_gain	1.0000
16:74888233:AGCC:A	donor_gain	1.0000
16:74892566:C:CC	acceptor_gain	1.0000
16:74893677:A:AC	donor_gain	1.0000
16:74893678:C:CC	donor_gain	1.0000
16:74893678:CATGT:C	donor_gain	1.0000
16:74893811:TT:T	acceptor_gain	1.0000
16:74893813:C:CC	acceptor_gain	1.0000
16:74903940:CACTT:C	donor_loss	1.0000
16:74903941:ACTTA:A	donor_loss	1.0000

AlphaMissense

6421 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:74874232:A:G	C968R	1.000
16:74874238:A:G	C966R	1.000
16:74874254:A:C	C960W	1.000
16:74874255:C:G	C960S	1.000
16:74874255:C:T	C960Y	1.000
16:74874256:A:G	C960R	1.000
16:74874256:A:T	C960S	1.000
16:74874272:A:C	F954L	1.000
16:74874272:A:T	F954L	1.000
16:74874274:A:G	F954L	1.000
16:74874275:C:A	W953C	1.000
16:74874275:C:G	W953C	1.000
16:74874277:A:G	W953R	1.000
16:74874277:A:T	W953R	1.000
16:74874300:C:T	G945D	1.000
16:74874301:C:G	G945R	1.000
16:74874303:C:T	G944D	1.000
16:74874312:C:T	C941Y	1.000
16:74874313:A:G	C941R	1.000
16:74874320:G:C	C938W	1.000
16:74874321:C:T	C938Y	1.000
16:74874322:A:G	C938R	1.000
16:74874353:A:C	C927W	1.000
16:74874354:C:A	C927F	1.000
16:74874354:C:G	C927S	1.000
16:74874354:C:T	C927Y	1.000
16:74874355:A:G	C927R	1.000
16:74874355:A:T	C927S	1.000
16:74874362:A:C	C924W	1.000
16:74874363:C:G	C924S	1.000

dbSNP variants (sampled 300 via entrez): RS1000000647 (16:74958819 G>C), RS1000003719 (16:74926658 T>C), RS1000014219 (16:74903125 G>A), RS1000019647 (16:74926937 A>G), RS1000051230 (16:74889532 T>C), RS1000086291 (16:74959546 T>G), RS1000101618 (16:74889274 T>C), RS1000157628 (16:74919209 T>C), RS1000193533 (16:74981604 A>C,G), RS1000193575 (16:74976721 G>A), RS1000233380 (16:74876198 G>T), RS1000250991 (16:74946034 G>A,T), RS1000269761 (16:74963383 T>C), RS1000269951 (16:74972279 A>C), RS1000297030 (16:74914481 T>A,C,G)

Disease associations

OMIM: gene MIM:617418 | 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
GCST001762_153	Obesity-related traits	8.000000e-06
GCST001762_246	Obesity-related traits	5.000000e-06
GCST001762_765	Obesity-related traits	8.000000e-06
GCST001762_785	Obesity-related traits	3.000000e-06
GCST002553_10	Pancreatic cancer	1.000000e-10
GCST003264_224	Post bronchodilator FEV1/FVC ratio	4.000000e-06
GCST008367_13	Plasma anti-thyroglobulin and anti-thyroid peroxidase levels (bivariate analysis)	3.000000e-06
GCST009936_13	Venous thromboembolism	9.000000e-06
GCST90000255_14	Severe COVID-19 infection with respiratory failure (analysis I)	4.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0005106	body composition measurement
EFO:0004713	FEV/FVC ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
bisphenol A	affects cotreatment, decreases expression	1
trichostatin A	decreases expression	1
beta-lapachone	decreases expression	1
gossypol acetic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Mercuric Chloride	decreases expression	1
Methotrexate	increases expression	1
Plant Extracts	affects cotreatment, increases 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_B2LE	Abcam HeLa WDR59 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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