CENPW

Summary

CENPW (centromere protein W, HGNC:21488) is a protein-coding gene on chromosome 6q22.32, encoding Centromere protein W (Q5EE01). Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. It is a common-essential gene (DepMap: required in 99.0% of cancer cell lines).

Predicted to enable DNA binding activity and protein heterodimerization activity. Involved in chromosome segregation; kinetochore assembly; and mitotic cell cycle. Located in kinetochore and nucleoplasm. Part of inner kinetochore.

Source: NCBI Gene 387103 — RefSeq curated summary.

At a glance

• GWAS associations: 76
• Clinical variants (ClinVar): 15 total
• Cancer dependency (DepMap): dependent in 99.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_001012507

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21488
Approved symbol	CENPW
Name	centromere protein W
Location	6q22.32
Locus type	gene with protein product
Status	Approved
Aliases	CUG2
Ensembl gene	ENSG00000203760
Ensembl biotype	protein_coding
OMIM	611264
Entrez	387103

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000368325, ENST00000368326, ENST00000368328, ENST00000930040, ENST00000930041

RefSeq mRNA: 3 — MANE Select: NM_001012507 NM_001012507, NM_001286524, NM_001286525

CCDS: CCDS34529, CCDS69196, CCDS75516

Canonical transcript exons

ENST00000368328 — 3 exons

Exon	Start	End
ENSE00001446893	126346205	126346318
ENSE00001837898	126348466	126348875
ENSE00003903875	126340115	126340399

Expression profiles

Bgee: expression breadth ubiquitous, 215 present calls, max score 94.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.6883 / max 826.3236, expressed in 1765 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69703	26.3892	1740
69702	3.1199	1289
204195	0.1791	72

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	94.56	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.13	gold quality
left testis	UBERON:0004533	91.35	gold quality
right testis	UBERON:0004534	91.06	gold quality
trabecular bone tissue	UBERON:0002483	90.89	gold quality
testis	UBERON:0000473	90.64	gold quality
ventricular zone	UBERON:0003053	89.65	gold quality
ganglionic eminence	UBERON:0004023	89.62	gold quality
bone marrow	UBERON:0002371	89.61	gold quality
stromal cell of endometrium	CL:0002255	89.30	gold quality
mucosa of transverse colon	UBERON:0004991	88.60	gold quality
lower esophagus mucosa	UBERON:0035834	87.95	gold quality
sperm	CL:0000019	87.88	gold quality
smooth muscle tissue	UBERON:0001135	87.58	gold quality
ileal mucosa	UBERON:0000331	87.44	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.42	gold quality
esophagus mucosa	UBERON:0002469	86.92	gold quality
oral cavity	UBERON:0000167	86.79	gold quality
rectum	UBERON:0001052	86.36	gold quality
germinal epithelium of ovary	UBERON:0001304	85.97	gold quality
gingival epithelium	UBERON:0001949	85.74	gold quality
body of uterus	UBERON:0009853	85.49	gold quality
adult organism	UBERON:0007023	85.43	gold quality
mucosa of sigmoid colon	UBERON:0004993	84.86	gold quality
secondary oocyte	CL:0000655	84.78	gold quality
monocyte	CL:0000576	84.43	gold quality
gingiva	UBERON:0001828	84.43	gold quality
myometrium	UBERON:0001296	84.28	gold quality
colonic mucosa	UBERON:0000317	83.86	gold quality
leukocyte	CL:0000738	83.70	gold quality

Single-cell (SCXA)

Detected in 18 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-MTAB-8559	yes	540.00
E-HCAD-56	yes	350.25
E-CURD-114	yes	305.05
E-HCAD-1	yes	261.64
E-MTAB-8142	yes	217.87
E-MTAB-10855	yes	187.23
E-MTAB-10885	yes	158.64
E-GEOD-110499	yes	86.47
E-HCAD-10	yes	46.45
E-CURD-112	yes	43.87
E-MTAB-9467	yes	34.66
E-GEOD-125970	yes	27.61
E-HCAD-13	yes	23.88
E-CURD-122	yes	17.42
E-HCAD-5	yes	14.83

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1, SP3

miRNA regulators (miRDB)

23 targeting CENPW, 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-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-12113	99.32	67.54	1072
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-4263	99.18	69.25	2236
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-4539	98.78	67.18	888
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-5585-5P	97.95	68.80	1024
HSA-MIR-4540	96.90	67.46	473
HSA-MIR-3651	95.62	64.67	287
HSA-MIR-10A-3P	93.57	64.43	451

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 27)

• These findings suggest CUG2 is a novel tumor-associated gene that is commonly activated in various human cancers and exhibits high transforming activities; it possibly belongs to a transcription regulator family that is involved in tumor biogenesis. (PMID:17610844)
• Study demonstrates that CENP-W forms a DNA-binding complex together with the CCAN component CENP-T; this complex directly associates with nucleosomal DNA and with canonical histone H3, but not with CENP-A, in centromeric regions. (PMID:19070575)
• CUG2 is a new component of the human centromeric complex that is required for proper chromosome segregation during mitosis. (PMID:19533040)
• data indicate that activation of p38 MAPK and Ras has critical roles in reoviral replication in CUG2-expressing tumor cells. (PMID:20075984)
• Sp1 together with Sp3 may function as the main regulator of the basal and serum-induced transcription of CENP-W. (PMID:20180024)
• Overexpression of CUG2 induces apoptosis in SKOV-3 cells. (PMID:20648695)
• The CENP-T/W complex assembles through a dynamic exchange mechanism in late S-phase and G2, is required for mitosis in each cell cycle and does not persist across cell generations. (PMID:21695110)
• B23 may function in the assembly of the kinetochore complex by interacting with CENP-W during interphase (PMID:22002061)
• Single nucleotide polymorphism in CENPW is associated with the length of reproductive lifespan. (PMID:22131368)
• we propose that VSV treatment combined with the selective regulation of genes such as STAT1 and OASL2 will improve therapeutic outcomes for CUG2-overexpressing tumors. (PMID:23306614)
• our results suggest that CUG2 enhances metastasis and drug resistance through STAT1 activation, which eventually contributes to tumor progression (PMID:23917355)
• CSN5 regulates the stability of the inner kinetochore components CENP-T and CENP-W, providing the first direct link between CSN5 and the mitotic apparatus, highlighting the role of CSN5 as a multifunctional cell cycle regulator. (PMID:23926101)
• CUG2-mediated antiviral activity can be reduced by ISG15 deficiency in A549 cells, which eventually enhances sensitivity of the cells to vesicular stomatitis virus infection. (PMID:24452380)
• We propose that CENP-W, by influencing proper kinetochore assembly, particularly microtubule docking sites, can confer spindle pole resistance to traction forces exerted by motor proteins during chromosome congression (PMID:25329824)
• CENP-W is a novel kinetochore component that may be involved in the EZH2-mediated silencing machinery. (PMID:26111449)
• CENP-W interacts with hnRNPU and may contribute to kinetochore-microtubule attachment in mitotic cells. (PMID:26881882)
• FACT chaperone stabilizes the soluble CENP-T/-W complex in the cell and promotes dynamics of exchange, enabling CENP-T/-W deposition at centromeres. (PMID:27284163)
• It has been proposed that CENP-W may function as a booster of beta-TrCP1 nuclear import to increase the oncogenicity of beta-TrCP1. (PMID:27861801)
• Report provides evidence that CUG2 induces the EMT in human lung cancer cells via enhancement of TGF-beta signaling and that that TGF-beta signaling is a potential target for CUG2-mediated oncogenesis. (PMID:27974707)
• we suggest that STAT1HDAC4 signaling induces malignant tumor features such as EMT and sphere formation in CUG2overexpressing cancer cells. (PMID:30226605)
• CENP-W showed a higher affinity toward the beta-TrCP1 b isoform. (PMID:30267325)
• CUG2 enhances expression of YAP1 protein. Akt and MAPK kinases are involved in the increase of YAP1 protein expression under overexpression of CUG2. (PMID:30771899)
• Study provide new evidence to suggest that CUG2 overexpression contributes to tumor formation through NEK2/beta-catenin signaling by enhancing the phosphorylation of betacatenin at Ser33/Ser37 by activating NEK2, thus stabilizing betacatenin. (PMID:30968157)
• The novel CUG2 oncogene promotes cellular transformation and stemness, mediated by nuclear NPM1 protein and TGF-beta signaling. (PMID:31113615)
• Knockdown of CENPW Inhibits Hepatocellular Carcinoma Progression by Inactivating E2F Signaling. (PMID:33973496)
• Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis. (PMID:34416157)
• Translocalization of enhanced PKM2 protein into the nucleus induced by cancer upregulated gene 2 confers cancer stem cell-like phenotypes. (PMID:35000669)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cenpw	ENSMUSG00000075266
rattus_norvegicus	Cenpwl1	ENSRNOG00000038257
rattus_norvegicus	Cenpw	ENSRNOG00000042944

Protein

Protein identifiers

Centromere protein W — Q5EE01 (reviewed: Q5EE01)

Alternative names: Cancer-up-regulated gene 2 protein

All UniProt accessions (2): A0A0A0MRK5, Q5EE01

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CENPA-NAC (nucleosome-associated) complex, a complex that plays a central role in assembly of kinetochore proteins, mitotic progression and chromosome segregation. The CENPA-NAC complex recruits the CENPA-CAD (nucleosome distal) complex and may be involved in incorporation of newly synthesized CENPA into centromeres. Part of a nucleosome-associated complex that binds specifically to histone H3-containing nucleosomes at the centromere, as opposed to nucleosomes containing CENPA. Component of the heterotetrameric CENP-T-W-S-X complex that binds and supercoils DNA, and plays an important role in kinetochore assembly. CENPW has a fundamental role in kinetochore assembly and function. It is one of the inner kinetochore proteins, with most further proteins binding downstream. Required for normal chromosome organization and normal progress through mitosis.

Subunit / interactions. Heterodimer with CENPT; this dimer coassembles with CENPS-CENPX heterodimers at centromeres to form the tetrameric CENP-T-W-S-X complex, which is a subcomplex of the large constitutive centromere-associated network (CCAN, also known as the interphase centromere complex or ICEN). Interacts with NPM1.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore. Nucleus matrix. Nucleolus.

Tissue specificity. Highly expressed in ovary, liver, lung and pancreas and to a lower extent in breast and gastrointestinal tract cancers; such as those of the colon, rectum and stomach. Overexpressed in high grade breast invasive tumors. Expressed in many cancer cell types.

Similarity. Belongs to the CENP-W/WIP1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5EE01-1	1	yes
Q5EE01-2	2

RefSeq proteins (3): NP_001012525, NP_001273453, NP_001273454 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009072	Histone-fold	Homologous_superfamily
IPR028847	CENP-W	Family
IPR052484	CENP-W/WIP1	Family

Pfam: PF15510

UniProt features (6 total): helix 3, chain 1, splice variant 1, strand 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
7QOO	ELECTRON MICROSCOPY	4.6
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5EE01-F1	89.83	0.83

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-1640170	Cell Cycle
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly

MSigDB gene sets: 142 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_CHROMOSOME_ORGANIZATION, HORIUCHI_WTAP_TARGETS_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, PATIL_LIVER_CANCER, GOBP_ORGANELLE_ASSEMBLY, GOBP_MITOTIC_CELL_CYCLE, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, FISCHER_DREAM_TARGETS, BASAKI_YBX1_TARGETS_UP, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOBP_KINETOCHORE_ORGANIZATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, NUYTTEN_EZH2_TARGETS_DN, GOCC_CHROMOSOMAL_REGION

GO Biological Process (6): mitotic cell cycle (GO:0000278), chromosome segregation (GO:0007059), CENP-A containing chromatin assembly (GO:0034080), chromosome organization (GO:0051276), cell division (GO:0051301), kinetochore assembly (GO:0051382)

GO Molecular Function (3): DNA binding (GO:0003677), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515)

GO Cellular Component (8): chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear matrix (GO:0016363), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Nucleosome assembly	1
Cell Cycle	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
nuclear lumen	3
cellular anatomical structure	2
cell cycle	1
mitotic nuclear division	1
cell cycle process	1
chromatin organization	1
kinetochore assembly	1
protein localization to CENP-A containing chromatin	1
organelle organization	1
cellular process	1
kinetochore organization	1
protein-containing complex assembly	1
membraneless organelle assembly	1
nucleic acid binding	1
protein dimerization activity	1
binding	1
chromosomal region	1
condensed chromosome, centromeric region	1
supramolecular complex	1
kinetochore	1
protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2155 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPW	CENPT	Q96BT3	997
CENPW	CENPS	Q8N2Z9	989
CENPW	CENPX	A8MT69	978
CENPW	CENPN	Q96H22	937
CENPW	CENPC	Q03188	935
CENPW	CENPH	Q9H3R5	922
CENPW	CENPU	Q71F23	896
CENPW	CENPK	Q9BS16	869
CENPW	ITGB3BP	Q13352	833
CENPW	CENPI	Q92674	833
CENPW	CENPA	P49450	830
CENPW	CENPQ	Q7L2Z9	830
CENPW	CENPM	Q9NSP4	817
CENPW	CENPP	Q6IPU0	815
CENPW	CENPB	P07199	812

IntAct

11 interactions, top by confidence:

A	B	Type	Score
CENPS	CENPX	psi-mi:“MI:0915”(physical association)	0.810
CENPW	CENPT	psi-mi:“MI:0915”(physical association)	0.780
CENPW	CENPT	psi-mi:“MI:0407”(direct interaction)	0.780
CENPW	CENPA	psi-mi:“MI:0915”(physical association)	0.400
Cenph	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPT	CENPA	psi-mi:“MI:0914”(association)	0.350
CENPW	PMVK	psi-mi:“MI:0914”(association)	0.350

BioGRID (42): CENPW (Affinity Capture-MS), BTRC (Affinity Capture-Western), CENPW (Affinity Capture-Western), BTRC (Reconstituted Complex), CENPW (Co-localization), CENPW (Affinity Capture-Western), CENPW (Protein-peptide), CENPW (Negative Genetic), CENPW (Negative Genetic), CENPW (Negative Genetic), CENPW (Negative Genetic), CENPW (Negative Genetic), CEP63 (Negative Genetic), PMF1 (Negative Genetic), POLN (Negative Genetic)

ESM2 similar proteins: A1L1L1, A2R702, A4QVR2, G2TRL2, O23628, O62695, O97484, P02272, P02288, P06353, P06902, P08985, P09589, P09590, P0C0S4, P0C0S5, P0C0S6, P0C0S7, P0C5Y9, P0C5Z0, P13630, P16890, P22647, P40285, P48003, P69141, P69142, Q09FM9, Q1DTG2, Q27489, Q2UJ80, Q32LA7, Q3THW5, Q3URR0, Q55BN9, Q5BJ65, Q5EE01, Q5RC42, Q5ZMD6, Q6GM74

Diamond homologs: A1L1L1, P0DJH6, Q3URR0, Q5EE01

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CENPW	“form complex”	“CCAN complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

423 predictions. Top by Δscore:

Variant	Effect	Δscore
6:126340388:G:GA	donor_gain	1.0000
6:126346200:TAAA:T	acceptor_loss	1.0000
6:126346201:A:AG	acceptor_gain	1.0000
6:126346202:A:G	acceptor_gain	1.0000
6:126346202:AAGG:A	acceptor_loss	1.0000
6:126346203:A:AG	acceptor_gain	1.0000
6:126346204:G:A	acceptor_loss	1.0000
6:126346204:G:GG	acceptor_gain	1.0000
6:126346314:CAAAG:C	donor_loss	1.0000
6:126346315:AAAG:A	donor_loss	1.0000
6:126346316:AAGG:A	donor_loss	1.0000
6:126346318:GGTA:G	donor_loss	1.0000
6:126346319:G:GA	donor_loss	1.0000
6:126346320:T:G	donor_loss	1.0000
6:126346957:G:GT	donor_gain	1.0000
6:126346958:A:T	donor_gain	1.0000
6:126346973:A:AG	donor_gain	1.0000
6:126340387:T:TA	donor_gain	0.9900
6:126340393:C:G	donor_gain	0.9900
6:126340396:ATTG:A	donor_loss	0.9900
6:126340400:G:GG	donor_gain	0.9900
6:126340401:T:G	donor_loss	0.9900
6:126346195:T:A	acceptor_gain	0.9900
6:126346201:AAAG:A	acceptor_gain	0.9900
6:126346235:C:A	acceptor_gain	0.9900
6:126346973:A:G	donor_gain	0.9900
6:126346977:G:GG	donor_gain	0.9900
6:126348460:TTACA:T	acceptor_loss	0.9900
6:126348461:TACAG:T	acceptor_loss	0.9900
6:126348462:ACAGG:A	acceptor_loss	0.9900

AlphaMissense

559 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:126346226:T:C	F50L	0.935
6:126346228:T:A	F50L	0.935
6:126346228:T:G	F50L	0.935
6:126346239:T:C	L54S	0.933
6:126346236:G:C	R53P	0.928
6:126346250:T:C	S58P	0.928
6:126346313:G:C	A79P	0.920
6:126348487:G:C	G88R	0.917
6:126348481:A:C	S86R	0.915
6:126348483:C:A	S86R	0.915
6:126348483:C:G	S86R	0.915
6:126346241:G:C	A55P	0.914
6:126346217:T:C	C47R	0.907
6:126340334:T:C	F21L	0.892
6:126340336:T:A	F21L	0.892
6:126340336:T:G	F21L	0.892
6:126348477:G:C	K84N	0.889
6:126348477:G:T	K84N	0.889
6:126346230:T:A	V51D	0.888
6:126346310:G:C	A78P	0.862
6:126346212:T:C	L45P	0.861
6:126346216:C:A	N46K	0.860
6:126346216:C:G	N46K	0.860
6:126348488:G:A	G88D	0.859
6:126346227:T:C	F50S	0.857
6:126346287:T:G	I70S	0.856
6:126346262:G:C	A62P	0.854
6:126348473:T:C	L83P	0.849
6:126346287:T:A	I70N	0.843
6:126346206:T:A	V43D	0.842

dbSNP variants (sampled 300 via entrez): RS1000011400 (6:126405917 A>G,T), RS1000022225 (6:126447964 T>C), RS1000030430 (6:126448312 C>T), RS1000036348 (6:126361228 T>G), RS1000064610 (6:126399018 A>G,T), RS1000112565 (6:126424532 C>T), RS1000148466 (6:126403118 A>C,G), RS1000191360 (6:126421181 T>A,C), RS1000217701 (6:126473926 T>C), RS1000256414 (6:126367820 C>G), RS1000257834 (6:126440617 G>T), RS1000266615 (6:126473664 C>A,T), RS1000271136 (6:126392921 C>A,T), RS1000288233 (6:126398036 T>TTG), RS1000288558 (6:126384816 A>C,G)

Disease associations

OMIM: gene MIM:611264 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

76 associations (top):

Study	Trait	p-value
GCST000175_7	Height	6.000000e-07
GCST000392_8	Type 1 diabetes	4.000000e-13
GCST000817_184	Height	4.000000e-21
GCST000880_6	Menarche (age at onset)	2.000000e-08
GCST001483_1	Intracranial volume	2.000000e-13
GCST001956_47	Height	1.000000e-16
GCST002352_62	Type 2 diabetes	3.000000e-06
GCST002493_2	Bone mineral density (paediatric, skull)	3.000000e-11
GCST002493_3	Bone mineral density (paediatric, skull)	1.000000e-06
GCST002493_4	Bone mineral density (paediatric, skull)	4.000000e-11
GCST002494_9	Bone mineral density (paediatric, total body less head)	2.000000e-06
GCST002496_1	Bone mineral density (paediatric, upper limb)	3.000000e-09
GCST002496_6	Bone mineral density (paediatric, upper limb)	4.000000e-08
GCST002541_56	Menarche (age at onset)	5.000000e-13
GCST002646_6	Infant length	2.000000e-10
GCST002647_59	Height	1.000000e-45
GCST002756_9	Subcortical brain region volumes	9.000000e-06
GCST003489_10	Food addiction	6.000000e-06
GCST003489_3	Food addiction	7.000000e-09
GCST003983_27	Male-pattern baldness	5.000000e-10
GCST003993_36	Menarche (age at onset)	1.000000e-10
GCST003996_32	Monobrow	6.000000e-21
GCST004067_165	Hip circumference adjusted for BMI	2.000000e-10
GCST004067_58	Hip circumference adjusted for BMI	2.000000e-12
GCST004894_136	Type 2 diabetes	3.000000e-08
GCST004894_60	Type 2 diabetes	2.000000e-07
GCST005116_4	Male-pattern baldness	2.000000e-17
GCST005171_46	QT interval	2.000000e-06
GCST005194_119	Coronary artery disease	2.000000e-10
GCST005195_91	Coronary artery disease	1.000000e-10

EFO canonical traits (30, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0004886	intracranial volume measurement
EFO:0006785	infant body height
EFO:0007829	eating behaviour
EFO:0007830	food addiction measurement
EFO:0007906	synophrys measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0004682	QT interval
EFO:0007660	neuroticism measurement
EFO:0004337	intelligence
EFO:0004695	intraocular pressure measurement
EFO:0004312	vital capacity
EFO:0009597	feeling nervous measurement
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0004458	C-reactive protein measurement
EFO:0004344	birth weight
EFO:0009695	household income
EFO:0004771	visual cortical surface area measurement
EFO:0008381	total cortical area measurement
EFO:0007874	gut microbiome measurement
EFO:0004346	neuroimaging measurement
EFO:0006781	coffee consumption measurement
EFO:0010091	tea consumption measurement
EFO:0007800	body fat percentage
EFO:0004736	aspartate aminotransferase measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	5
Cyclosporine	affects expression, decreases expression	4
Aflatoxin B1	affects expression, increases expression	3
bisphenol A	affects expression, decreases expression	2
Air Pollutants	decreases expression, increases abundance	2
Estradiol	decreases expression, increases expression	2
Tretinoin	decreases expression	2
Particulate Matter	increases abundance, decreases expression	2
dicrotophos	decreases expression	1
deoxynivalenol	increases expression	1
lead acetate	increases expression	1
beta-lapachone	decreases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
zinc chromate	increases abundance, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
K 7174	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
pyrachlostrobin	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
incobotulinumtoxinA	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Dasatinib	decreases expression	1

Clinical trials (associated diseases)

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