CENPO

Summary

CENPO (centromere protein O, HGNC:28152) is a protein-coding gene on chromosome 2p23.3, encoding Centromere protein O (Q9BU64). Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation.

This gene encodes a component of the interphase centromere complex. The encoded protein is localized to the centromere throughout the cell cycle and is required for bipolar spindle assembly, chromosome segregation and checkpoint signaling during mitosis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene.

Source: NCBI Gene 79172 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 53 total — 1 pathogenic
• MANE Select transcript: NM_001322101

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28152
Approved symbol	CENPO
Name	centromere protein O
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC11266, CENP-O
Ensembl gene	ENSG00000138092
Ensembl biotype	protein_coding
OMIM	611504
Entrez	79172

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000260662, ENST00000380834, ENST00000395845, ENST00000464156, ENST00000473476, ENST00000473706, ENST00000486527, ENST00000491031, ENST00000498362, ENST00000868050, ENST00000868051, ENST00000912477, ENST00000912478, ENST00000912479

RefSeq mRNA: 3 — MANE Select: NM_001322101 NM_001199803, NM_001322101, NM_024322

CCDS: CCDS1714, CCDS56113

Canonical transcript exons

ENST00000380834 — 8 exons

Exon	Start	End
ENSE00000932294	24815497	24815756
ENSE00001486462	24819354	24822376
ENSE00003462134	24793425	24793501
ENSE00003535777	24799675	24799844
ENSE00003581564	24814376	24814493
ENSE00003608807	24816646	24816817
ENSE00003625370	24793852	24793965
ENSE00003690351	24817670	24817841

Expression profiles

Bgee: expression breadth ubiquitous, 184 present calls, max score 90.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.5814 / max 199.4382, expressed in 1750 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19198	7.3568	1375
19197	4.9662	1670
19199	1.2584	681

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	90.69	gold quality
ganglionic eminence	UBERON:0004023	89.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.93	gold quality
secondary oocyte	CL:0000655	85.09	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.77	gold quality
left testis	UBERON:0004533	80.50	gold quality
right testis	UBERON:0004534	80.15	gold quality
testis	UBERON:0000473	80.14	gold quality
oocyte	CL:0000023	80.00	gold quality
stromal cell of endometrium	CL:0002255	79.84	gold quality
mucosa of transverse colon	UBERON:0004991	78.96	gold quality
parotid gland	UBERON:0001831	78.91	gold quality
adrenal tissue	UBERON:0018303	78.07	gold quality
right adrenal gland cortex	UBERON:0035827	76.59	gold quality
rectum	UBERON:0001052	76.17	gold quality
right adrenal gland	UBERON:0001233	76.08	gold quality
anterior cingulate cortex	UBERON:0009835	75.99	gold quality
caudate nucleus	UBERON:0001873	75.92	gold quality
cingulate cortex	UBERON:0003027	75.90	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	75.78	gold quality
putamen	UBERON:0001874	75.72	gold quality
nucleus accumbens	UBERON:0001882	75.65	gold quality
lymph node	UBERON:0000029	75.32	gold quality
prefrontal cortex	UBERON:0000451	75.25	gold quality
tibial nerve	UBERON:0001323	75.23	gold quality
bone marrow	UBERON:0002371	75.20	gold quality
left adrenal gland	UBERON:0001234	75.19	gold quality
right frontal lobe	UBERON:0002810	75.16	gold quality
granulocyte	CL:0000094	75.09	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9543	yes	37.88
E-CURD-112	yes	15.25
E-ANND-3	no	3.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

83 targeting CENPO, 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-4713-3P	100.00	65.92	505
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-8076	99.78	68.52	1170
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-4649-3P	99.56	66.90	1783

Literature-anchored findings (GeneRIF, showing 6)

• CENP-O protein is a novel centromere antigen that is recognized by a very minor population of ACA-positive patients with scleroderma. (PMID:19286853)
• Data propose that CENP-P/O/R/Q/U self-assembles on kinetochores with varying stoichiometry and undergoes a pre-mitotic maturation step that could be important for kinetochores switching into the correct conformation for microtubule-attachment. (PMID:23028590)
• Knockdown of CENPO contributed to Gastric Cancer cell growth inhibition and apoptosis induction. (PMID:31485675)
• Differential requirements for the CENP-O complex reveal parallel PLK1 kinetochore recruitment pathways. (PMID:33596090)
• Prognostic and immune infiltrative biomarkers of CENPO in pan-cancer and its relationship with lung adenocarcinoma cell proliferation and metastasis. (PMID:37558987)
• High expression levels of centromere protein O participates in cell proliferation of human ovarian cancer. (PMID:38890751)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cenpo	ENSDARG00000075619
mus_musculus	Cenpo	ENSMUSG00000020652
rattus_norvegicus	Cenpo	ENSRNOG00000050111

Protein

Protein identifiers

Centromere protein O — Q9BU64 (reviewed: Q9BU64)

Alternative names: Interphase centromere complex protein 36

All UniProt accessions (1): Q9BU64

UniProt curated annotations — full annotation on UniProt →

Function. Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. Modulates the kinetochore-bound levels of NDC80 complex.

Subunit / interactions. Component of the CENPA-CAD complex, composed of CENPI, CENPK, CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex interacts with the CENPA-NAC complex, at least composed of CENPA, CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.

Subcellular location. Nucleus. Chromosome. Centromere. Kinetochore.

Similarity. Belongs to the CENP-O/MCM21 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BU64-1	1	yes
Q9BU64-2	2

RefSeq proteins (3): NP_001186732, NP_001309030, NP_077298 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018464	CENP-O	Family

Pfam: PF09496

UniProt features (29 total): strand 12, helix 9, coiled-coil region 2, sequence conflict 2, chain 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

13 structures.

PDB	Method	Resolution (Å)
28OP	ELECTRON MICROSCOPY	2.7
7R5S	ELECTRON MICROSCOPY	2.83
7PKN	ELECTRON MICROSCOPY	3.2
7XHO	ELECTRON MICROSCOPY	3.29
9TAW	ELECTRON MICROSCOPY	3.54
7PB8	X-RAY DIFFRACTION	3.68
7XHN	ELECTRON MICROSCOPY	3.71
9TAX	ELECTRON MICROSCOPY	4.5
7R5V	ELECTRON MICROSCOPY	4.55
7QOO	ELECTRON MICROSCOPY	4.6
7YYH	ELECTRON MICROSCOPY	8.9
7YWX	ELECTRON MICROSCOPY	12
9TAY	ELECTRON MICROSCOPY	15.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BU64-F1	85.64	0.62

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 (1): 35

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-141444	Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813	Separation of Sister Chromatids
R-HSA-2500257	Resolution of Sister Chromatid Cohesion
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-68877	Mitotic Prometaphase
R-HSA-9648025	EML4 and NUDC in mitotic spindle formation
R-HSA-141424	Amplification of signal from the kinetochores
R-HSA-162582	Signal Transduction
R-HSA-1640170	Cell Cycle
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2555396	Mitotic Metaphase and Anaphase
R-HSA-68882	Mitotic Anaphase
R-HSA-68886	M Phase
R-HSA-69278	Cell Cycle, Mitotic
R-HSA-69618	Mitotic Spindle Checkpoint
R-HSA-69620	Cell Cycle Checkpoints
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 145 (showing top): TGCGCANK_UNKNOWN, GCM_GSPT1, TGCACTT_MIR519C_MIR519B_MIR519A, GGCKCATGS_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS, BASAKI_YBX1_TARGETS_UP, GCM_NF2, REACTOME_CELL_CYCLE_CHECKPOINTS, GOCC_CHROMOSOMAL_REGION, GOCC_NUCLEAR_BODY, TCCCRNNRTGC_UNKNOWN, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, GOBP_CELL_CYCLE_PROCESS, SCGGAAGY_ELK1_02

GO Biological Process (2): chromosome segregation (GO:0007059), obsolete centromere complex assembly (GO:0034508)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): inner kinetochore (GO:0000939), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), nuclear body (GO:0016604), Mis6-Sim4 complex (GO:0031511), chromosome, centromeric region (GO:0000775), kinetochore (GO:0000776), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-14 pathways:

Category	Pathways
Cell Cycle	3
Mitotic Prometaphase	2
M Phase	2
Amplification of signal from the kinetochores	1
Mitotic Anaphase	1
RHO GTPase Effectors	1
Nucleosome assembly	1
Mitotic Spindle Checkpoint	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Mitotic Metaphase and Anaphase	1
Cell Cycle, Mitotic	1
Cell Cycle Checkpoints	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
protein-containing complex	2
cellular anatomical structure	2
cell cycle process	1
binding	1
kinetochore	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nucleoplasm	1
inner kinetochore	1
chromosomal region	1
condensed chromosome, centromeric region	1
supramolecular complex	1

Protein interactions and networks

STRING

1272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CENPO	CENPQ	Q7L2Z9	997
CENPO	CENPP	Q6IPU0	997
CENPO	CENPU	Q71F23	994
CENPO	CENPI	Q92674	988
CENPO	CENPH	Q9H3R5	985
CENPO	CENPL	Q8N0S6	984
CENPO	CENPK	Q9BS16	983
CENPO	CENPN	Q96H22	977
CENPO	CENPM	Q9NSP4	972
CENPO	ITGB3BP	Q13352	972
CENPO	CENPT	Q96BT3	966
CENPO	CENPS	Q8N2Z9	951
CENPO	CENPC	Q03188	922
CENPO	CENPA	P49450	872
CENPO	CENPW	Q5EE01	811

IntAct

51 interactions, top by confidence:

A	B	Type	Score
CENPO	CENPP	psi-mi:“MI:0915”(physical association)	0.870
CENPP	CENPO	psi-mi:“MI:0915”(physical association)	0.870
CENPO	CEP170P1	psi-mi:“MI:0915”(physical association)	0.740
CEP170P1	CENPO	psi-mi:“MI:0915”(physical association)	0.740
ITGB3BP	CENPU	psi-mi:“MI:0914”(association)	0.710
NECAB2	CENPO	psi-mi:“MI:0915”(physical association)	0.560
CENPO	FOS	psi-mi:“MI:0915”(physical association)	0.560
CENPO	NECAB2	psi-mi:“MI:0915”(physical association)	0.560
FOS	CENPO	psi-mi:“MI:0915”(physical association)	0.560
FOSB	CENPO	psi-mi:“MI:0915”(physical association)	0.560
CENPO	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
CENPP	ITGB3BP	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
ITGB3BP	CENPP	psi-mi:“MI:0914”(association)	0.530
RNF40	CENPO	psi-mi:“MI:0915”(physical association)	0.370
Cenpq	BANF1	psi-mi:“MI:0914”(association)	0.350
Cenph	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPO	CENPX	psi-mi:“MI:0914”(association)	0.350
CENPQ	CENPX	psi-mi:“MI:0914”(association)	0.350
ITGB3BP	ATP5MF-PTCD1	psi-mi:“MI:0914”(association)	0.350
CENPU	CENPX	psi-mi:“MI:0914”(association)	0.350

BioGRID (86): CENPO (Two-hybrid), CENPO (Two-hybrid), CENPP (Two-hybrid), CEP170P1 (Two-hybrid), CENPO (Affinity Capture-RNA), CENPO (Affinity Capture-RNA), CENPO (Affinity Capture-MS), ARL5B (Affinity Capture-MS), CENPQ (Affinity Capture-MS), ITGB3BP (Affinity Capture-MS), CENPU (Affinity Capture-MS), MTFR1 (Affinity Capture-MS), CENPO (Two-hybrid), ATP2B1 (Affinity Capture-MS), CENPC (Affinity Capture-MS)

ESM2 similar proteins: A2RT67, A2RUS2, A4IHY1, B0CM32, B0KW86, E1B8U2, E7F240, F1MDL2, O08983, O94955, O95456, P48553, Q05AX3, Q0P5F2, Q1JQA1, Q1RMZ1, Q2HJ90, Q3T0J1, Q3TLI0, Q3ZBK8, Q4KM95, Q5FVM6, Q5R4T7, Q5R989, Q5RAQ5, Q5RFG8, Q60GF7, Q6DG91, Q6VNB8, Q7Z7H3, Q80TA6, Q8BXK4, Q8CHQ0, Q8IZQ1, Q8K2I9, Q8NFZ0, Q91W96, Q92902, Q96QE5, Q99LV7

Diamond homologs: Q1T7B8, Q28HU3, Q3ZBK8, Q8K015, Q9BU64

SIGNOR signaling

1 interactions.

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

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 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
Nucleosome assembly	5	103.4×	1e-07
Chromosome Maintenance	5	46.0×	4e-06
Deposition of new CENPA-containing nucleosomes at the centromere	5	34.5×	1e-05
Mitotic Metaphase and Anaphase	5	21.0×	7e-05
Mitotic Anaphase	5	21.0×	7e-05
M Phase	5	14.3×	3e-04
Cell Cycle, Mitotic	5	10.5×	9e-04
Cell Cycle	6	9.4×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
chromosome segregation	5	31.0×	8e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	32
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3356988	NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)	Pathogenic

SpliceAI

1787 predictions. Top by Δscore:

Variant	Effect	Δscore
2:24793122:TCA:T	donor_loss	1.0000
2:24793123:CA:C	donor_loss	1.0000
2:24793125:C:A	donor_loss	1.0000
2:24799843:GC:G	donor_gain	1.0000
2:24799845:G:GG	donor_gain	1.0000
2:24799859:G:GA	donor_gain	1.0000
2:24816718:A:AG	acceptor_gain	1.0000
2:24816718:AAACT:A	acceptor_gain	1.0000
2:24816719:A:G	acceptor_gain	1.0000
2:24820844:CATGC:C	acceptor_gain	1.0000
2:24820846:TGC:T	acceptor_gain	1.0000
2:24820847:GC:G	acceptor_gain	1.0000
2:24820847:GCCTA:G	acceptor_loss	1.0000
2:24820848:CC:C	acceptor_gain	1.0000
2:24820849:C:CC	acceptor_gain	1.0000
2:24821511:GCTCA:G	donor_loss	1.0000
2:24821512:CTCAC:C	donor_loss	1.0000
2:24821513:TCAC:T	donor_loss	1.0000
2:24821514:CA:C	donor_loss	1.0000
2:24821515:A:AC	donor_gain	1.0000
2:24821515:A:T	donor_loss	1.0000
2:24821516:C:CC	donor_gain	1.0000
2:24821516:C:CG	donor_loss	1.0000
2:24821637:CTTC:C	acceptor_gain	1.0000
2:24821638:TTC:T	acceptor_gain	1.0000
2:24821640:CC:C	acceptor_loss	1.0000
2:24821640:CCTG:C	acceptor_gain	1.0000
2:24821641:C:CC	acceptor_gain	1.0000
2:24821641:CTGT:C	acceptor_loss	1.0000
2:24821642:T:C	acceptor_loss	1.0000

AlphaMissense

1936 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:24815732:G:C	R190S	0.984
2:24815732:G:T	R190S	0.984
2:24815626:T:A	V155D	0.972
2:24815634:T:C	F158L	0.969
2:24815636:C:A	F158L	0.969
2:24815636:C:G	F158L	0.969
2:24815731:G:C	R190T	0.966
2:24816710:T:C	F220S	0.966
2:24815550:T:C	F130L	0.960
2:24815552:T:A	F130L	0.960
2:24815552:T:G	F130L	0.960
2:24816709:T:C	F220L	0.957
2:24816711:T:A	F220L	0.957
2:24816711:T:G	F220L	0.957
2:24815742:G:C	A194P	0.953
2:24816761:T:C	L237S	0.953
2:24816791:C:A	P247H	0.945
2:24815611:T:C	I150T	0.941
2:24815533:T:A	V124D	0.928
2:24815611:T:A	I150K	0.924
2:24815713:T:C	L184P	0.921
2:24816791:C:G	P247R	0.918
2:24815752:T:C	L197P	0.916
2:24816652:T:C	F201L	0.915
2:24816654:T:A	F201L	0.915
2:24816654:T:G	F201L	0.915
2:24815689:T:C	F176S	0.910
2:24816806:T:A	V252E	0.906
2:24815721:T:G	Y187D	0.905
2:24817753:T:C	F284L	0.905

dbSNP variants (sampled 300 via entrez): RS1000005738 (2:24812264 C>G), RS1000037120 (2:24812730 C>G), RS1000277142 (2:24821136 G>A), RS1000290769 (2:24806189 G>A), RS1000304940 (2:24797290 G>T), RS1000549382 (2:24816313 T>C), RS1000734371 (2:24792291 A>G), RS1000825715 (2:24792292 T>C), RS1001105893 (2:24792454 T>C), RS1001312684 (2:24796003 G>A), RS1001350342 (2:24819147 T>C), RS1001476379 (2:24804518 C>G,T), RS1001578307 (2:24816044 C>A,G), RS1001696524 (2:24821079 G>C), RS1001721757 (2:24816004 A>T)

Disease associations

OMIM: gene MIM:611504 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST001255_1	Type 1 diabetes	4.000000e-09
GCST001956_74	Height	1.000000e-13
GCST002647_18	Height	8.000000e-33
GCST004077_6	Cognitive function	7.000000e-09
GCST005196_199	Coronary artery disease	3.000000e-07
GCST005531_32	Multiple sclerosis	3.000000e-09
GCST005950_4	Body mass index x sex x age interaction (4df test)	5.000000e-26
GCST005951_195	Body mass index	3.000000e-24
GCST005952_4	Body mass index (age>50)	5.000000e-09
GCST005953_10	Body mass index (age <50)	6.000000e-20
GCST007293_13	Body fat distribution (arm fat ratio)	2.000000e-39
GCST007293_41	Body fat distribution (arm fat ratio)	5.000000e-22
GCST007293_5	Body fat distribution (arm fat ratio)	2.000000e-21
GCST007294_128	Body fat distribution (trunk fat ratio)	7.000000e-06
GCST007294_94	Body fat distribution (trunk fat ratio)	9.000000e-10
GCST008129_40	Body mass index	4.000000e-59
GCST008154_19	Trunk fat mass	2.000000e-06
GCST008157_33	Body fat mass	4.000000e-08
GCST008163_214	Height	3.000000e-07
GCST008514_4	Peginterferon alfa-2a treatment response in chronic hepatitis B infection	8.000000e-06
GCST90020029_644	Waist circumference adjusted for body mass index	7.000000e-14

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0004340	body mass index
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0004341	body fat distribution
EFO:0010103	response to peginterferon alfa-2a
EFO:0007789	BMI-adjusted waist circumference

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
sodium arsenite	increases expression, affects methylation	2
Resveratrol	affects cotreatment, increases expression	2
Acetaminophen	increases expression, decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
afuresertib	decreases expression	1
FR900359	increases phosphorylation	1
propionaldehyde	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases expression	1
beta-lapachone	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
NSC 689534	affects binding, decreases expression	1
Dasatinib	decreases expression	1
Sunitinib	decreases expression	1
Atrazine	decreases expression	1
Azacitidine	increases expression	1
Benzo(a)pyrene	increases expression	1
Cadmium	increases abundance, increases expression	1
Caffeine	increases phosphorylation	1
Calcitriol	decreases expression, affects cotreatment	1
Copper	affects binding, decreases expression	1
Coumestrol	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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