CBFA2T2

Summary

CBFA2T2 (CBFA2/RUNX1 partner transcriptional co-repressor 2, HGNC:1536) is a protein-coding gene on chromosome 20q11.21-q11.22, encoding Protein CBFA2T2 (O43439). Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes.

In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5’-region of the RUNX1 (AML1) gene fused to the 3’-region of the CBFA2T1 (MTG8) gene. The chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block hematopoietic differentiation. The protein encoded by this gene binds to the AML1-MTG8 complex and may be important in promoting leukemogenesis. Several transcript variants are thought to exist for this gene, but the full-length natures of only three have been described.

Source: NCBI Gene 9139 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 92 total
• MANE Select transcript: NM_001032999

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1536
Approved symbol	CBFA2T2
Name	CBFA2/RUNX1 partner transcriptional co-repressor 2
Location	20q11.21-q11.22
Locus type	gene with protein product
Status	Approved
Aliases	MTGR1, ZMYND3
Ensembl gene	ENSG00000078699
Ensembl biotype	protein_coding
OMIM	603672
Entrez	9139

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000342704, ENST00000344201, ENST00000346541, ENST00000359606, ENST00000375279, ENST00000397800, ENST00000471007, ENST00000491618, ENST00000492345, ENST00000543126

RefSeq mRNA: 3 — MANE Select: NM_001032999 NM_001032999, NM_001039709, NM_005093

CCDS: CCDS13221, CCDS46590

Canonical transcript exons

ENST00000342704 — 11 exons

Exon	Start	End
ENSE00000860014	33619517	33619606
ENSE00001676236	33640341	33640531
ENSE00001700446	33636640	33636708
ENSE00001750956	33490096	33490301
ENSE00003525709	33629719	33629914
ENSE00003534669	33611094	33611335
ENSE00003574531	33628350	33628435
ENSE00003625365	33623115	33623296
ENSE00003649598	33624764	33625017
ENSE00003662266	33606956	33607099
ENSE00003706755	33644347	33650030

Expression profiles

Bgee: expression breadth ubiquitous, 279 present calls, max score 95.38.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.0935 / max 287.2194, expressed in 1782 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
184160	13.2894	1780
184161	0.4784	239
184163	0.1827	67
209082	0.1430	57

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	95.38	gold quality
ganglionic eminence	UBERON:0004023	90.41	gold quality
middle temporal gyrus	UBERON:0002771	88.44	gold quality
sural nerve	UBERON:0015488	87.88	gold quality
lateral nuclear group of thalamus	UBERON:0002736	87.86	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.61	gold quality
lateral globus pallidus	UBERON:0002476	86.61	gold quality
tendon of biceps brachii	UBERON:0008188	84.99	gold quality
embryo	UBERON:0000922	84.92	gold quality
prostate gland	UBERON:0002367	84.88	gold quality
subthalamic nucleus	UBERON:0001906	84.81	gold quality
cortical plate	UBERON:0005343	84.81	gold quality
substantia nigra pars compacta	UBERON:0001965	84.66	gold quality
corpus callosum	UBERON:0002336	84.20	gold quality
globus pallidus	UBERON:0001875	83.96	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.50	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	83.38	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.35	gold quality
medial globus pallidus	UBERON:0002477	83.34	gold quality
inferior vagus X ganglion	UBERON:0005363	83.02	gold quality
dorsal plus ventral thalamus	UBERON:0001897	83.01	gold quality
oviduct epithelium	UBERON:0004804	82.96	gold quality
ventricular zone	UBERON:0003053	82.70	gold quality
transverse colon	UBERON:0001157	82.38	gold quality
ventral tegmental area	UBERON:0002691	82.20	gold quality
nipple	UBERON:0002030	82.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.17	gold quality
postcentral gyrus	UBERON:0002581	81.93	gold quality
Brodmann (1909) area 23	UBERON:0013554	81.86	gold quality
heart right ventricle	UBERON:0002080	81.81	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.90
E-MTAB-6386	no	223.50

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RUNX1

miRNA regulators (miRDB)

177 targeting CBFA2T2, 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-4283	100.00	66.42	2097
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
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-4482-3P	99.98	72.50	3147
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1468-3P	99.96	72.74	3797
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-6825-5P	99.96	69.81	3431
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-23A-3P	99.95	74.24	3163

Literature-anchored findings (GeneRIF, showing 7)

• ETO family member-mediated oligomerization and repression can be distinct events and that interaction between ETO family members and hSIN3B or N-CoR may not necessarily strengthen transcriptional repression. (PMID:18586123)
• These results reveal novel contributions of MTGR1 and GFI1 to the regulation of neurite outgrowth and identify novel repressors of integrin-dependent neurite outgrowth. (PMID:19026687)
• report characterization of two chimeric transcripts identified in AML translocation cases involving CBFA2T2 and C20orf112 (PMID:20520637)
• The MTGR1 gene depends on a GC-box-rich sequence for transcriptional regulation and possible ubiquitous expression. (PMID:22443175)
• in human colorectal cancer (CRC) samples MTGR1 was downregulated at both the transcript and protein level. Overall data indicates that MTGR1 has a context-dependent effect on intestinal tumorigenesis. (PMID:27270437)
• CBFA2T2 forms a biochemical complex with PRDM14, a germline-specific transcription factor; mechanistically, CBFA2T2 oligomerizes to form a scaffold upon which PRDM14 and OCT4 are stabilized on chromatin (PMID:27281218)
• CBFA2T2 promotes adipogenic differentiation of mesenchymal stem cells by regulating CEBPA. (PMID:32703401)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cbfa2t2	ENSDARG00000074337
mus_musculus	Cbfa2t2	ENSMUSG00000038533
rattus_norvegicus	Cbfa2t2	ENSRNOG00000016352
drosophila_melanogaster	nvy	FBGN0005636

Paralogs (2): RUNX1T1 (ENSG00000079102), CBFA2T3 (ENSG00000129993)

Protein

Protein identifiers

Protein CBFA2T2 — O43439 (reviewed: O43439)

Alternative names: ETO homologous on chromosome 20, MTG8-like protein, MTG8-related protein 1, Myeloid translocation-related protein 1, p85

All UniProt accessions (2): O43439, Q68DC6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes. Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency. Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner. Can repress the expression of MMP7 in a ZBTB33-dependent manner. May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes. Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation.

Subunit / interactions. Homooligomer. Homotetramerization is mediated by nervy homology region 2. Can interact with RUNX1T1/CBFA2T1 and CBFA2T3/MTG16; heterotetramerization between members of the CBFA2T family is proposed. Forms a heterooligomer with the AML1-MTG8/ETO fusion protein. Interacts with PRDM14. Interacts with RBPJ, GFI1, TCF4. Interacts with TAL1 and CBFA2T3/MTG16; the heteromer with CBFA2T3/MTG16 may function in repression of TAL1.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus.

Disease relevance. A chromosomal aberration involving CBFA2T2 is found in childhood precursor B-cell acute lymphoblastic leukemia (pre-B ALL). Translocation t(9;20)(p13;q11) with PAX5. A chromosomal aberration involving CBFA2T2 is found in acute myeloid leukemia. Translocation t(20;21)(q11;q22) with RUNX1/AML1.

Domain organisation. Nervy homology region 2 (NHR2) mediates homo- and possibly heterotypic oligomerization by forming a four-helix bundle tetrameric structure.

Similarity. Belongs to the CBFA2T family.

Isoforms (5)

UniProt ID	Names	Canonical?
O43439-1	1, MTGR1b	yes
O43439-2	2, MTGR1a, EHT
O43439-3	3
O43439-4	4
O43439-5	5

RefSeq proteins (3): NP_001028171, NP_001034798, NP_005084 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002893	Znf_MYND	Domain
IPR003894	TAFH_NHR1	Domain
IPR013289	CBFA2T1/2/3	Family
IPR013291	MTGR1	Family
IPR014896	NHR2	Domain
IPR037249	TAFH/NHR1_dom_sf	Homologous_superfamily

Pfam: PF01753, PF07531, PF08788

UniProt features (39 total): binding site 8, region of interest 7, compositionally biased region 6, splice variant 5, modified residue 4, cross-link 2, sequence conflict 2, chain 1, domain 1, coiled-coil region 1, zinc finger region 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43439-F1	64.92	0.28

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 20–21 (breakpoint for translocation to form runx1-cbfa2t2 in acute myeloid leukemia)

Ligand- & substrate-binding residues (8): 507; 510; 518; 521; 527; 531; 539; 543

Post-translational modifications (6): 33, 264, 409, 577, 38, 449

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9827857	Specification of primordial germ cells
R-HSA-1474165	Reproduction

MSigDB gene sets: 244 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEUROGENESIS, HNF1_Q6, FOXO4_01, FOXO1_01, CACCAGC_MIR138, GOBP_NEGATIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, CHANG_IMMORTALIZED_BY_HPV31_DN, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, TCF4_Q5, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, SOX9_B1, MYOD_01

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), DNA-templated transcription (GO:0006351), positive regulation of neuron projection development (GO:0010976), negative regulation of neuron projection development (GO:0010977), negative regulation of Notch signaling pathway (GO:0045746), negative regulation of DNA-templated transcription (GO:0045892), intestinal epithelial cell differentiation (GO:0060575), epithelial cell differentiation (GO:0030855)

GO Molecular Function (4): transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): nucleus (GO:0005634), nucleoplasm (GO:0005654)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Reproduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of DNA-templated transcription	2
regulation of neuron projection development	2
neuron projection development	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
gene expression	1
RNA biosynthetic process	1
positive regulation of cell projection organization	1
negative regulation of cell projection organization	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
negative regulation of signal transduction	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
columnar/cuboidal epithelial cell differentiation	1
digestive tract development	1
cell differentiation	1
epithelium development	1
transcription coregulator activity	1
transition metal ion binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1686 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CBFA2T2	RUNX1	Q01196	818
CBFA2T2	PRDM14	Q9GZV8	809
CBFA2T2	AKAP8	O43823	669
CBFA2T2	LDB1	Q86U70	656
CBFA2T2	RUNX1T1	Q06455	649
CBFA2T2	LDB2	O43679	638
CBFA2T2	SNTA1	Q13424	634
CBFA2T2	TCF3	P15883	589
CBFA2T2	AKAP5	P24588	588
CBFA2T2	GATA1	P15976	584
CBFA2T2	LYL1	P12980	522
CBFA2T2	CBFA2T3	O75081	507
CBFA2T2	AKAP1	Q92667	502
CBFA2T2	LMO2	P25791	501
CBFA2T2	ZBTB33	Q86T24	499

IntAct

46 interactions, top by confidence:

A	B	Type	Score
PRDM14	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.860
CBFA2T2	PRDM14	psi-mi:“MI:0915”(physical association)	0.860
PRDM14	CBFA2T2	psi-mi:“MI:0914”(association)	0.860
MDFI	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.710
TCP1	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.560
CBFA2T2	PDP1	psi-mi:“MI:0915”(physical association)	0.560
CBFA2T2	TCP1	psi-mi:“MI:0915”(physical association)	0.560
CBFA2T2	CBFA2T3	psi-mi:“MI:0914”(association)	0.530
CBFA2T3	CBFA2T2	psi-mi:“MI:0914”(association)	0.530
PEX14	CBFA2T2	psi-mi:“MI:0407”(direct interaction)	0.440
ZNF652	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.400
CBFA2T2	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.370
CBFA2T2	FBXL19	psi-mi:“MI:0915”(physical association)	0.370
GTF2E1	CBFA2T2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (70): CBFA2T2 (Two-hybrid), CBFA2T2 (Two-hybrid), PDP1 (Two-hybrid), PRDM14 (Two-hybrid), CBFA2T2 (Reconstituted Complex), PRDM6 (Affinity Capture-MS), WDYHV1 (Two-hybrid), CBFA2T2 (Two-hybrid), CBFA2T2 (Affinity Capture-Western), CBFA2T2 (Two-hybrid), CBFA2T2 (Affinity Capture-MS), CBFA2T2 (Affinity Capture-MS), PRDM6 (Affinity Capture-MS), CBFA2T2 (Affinity Capture-RNA), CBFA2T2 (Affinity Capture-MS)

ESM2 similar proteins: A1YB07, A4IIE8, D3YZP9, E1BEQ5, O42400, O43439, O70239, O70374, O75069, O94876, P49140, Q02225, Q06455, Q0P485, Q0V989, Q13136, Q16204, Q3LGD4, Q4V872, Q4VCS5, Q5R8Q4, Q5RDH2, Q5SP85, Q61909, Q62415, Q69ZZ6, Q6DFC2, Q6DHL7, Q6NUC6, Q7KW14, Q7PQ25, Q80W04, Q86TB9, Q86YS3, Q8BH60, Q8IY63, Q8R310, Q8VHG2, Q91Z80, Q920B0

Diamond homologs: O00268, O43439, O54972, O70374, O75081, O75398, O77562, O88450, P47825, Q06455, Q5F3B1, Q61909, Q9IAB2, Q9Z1T5, O88873, P23497, P58929, Q13342, Q3KRF1, Q8BVK9, Q921C6, Q9H930, Q9HB58, Q9UKD1, Q24180

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3995 predictions. Top by Δscore:

Variant	Effect	Δscore
20:33490300:GC:G	donor_gain	1.0000
20:33490302:G:GG	donor_gain	1.0000
20:33546323:G:GG	donor_gain	1.0000
20:33593862:C:G	acceptor_gain	1.0000
20:33606951:TGCA:T	acceptor_loss	1.0000
20:33606954:A:AG	acceptor_gain	1.0000
20:33606954:AGTT:A	acceptor_gain	1.0000
20:33606955:G:GG	acceptor_gain	1.0000
20:33606955:GT:G	acceptor_gain	1.0000
20:33606955:GTT:G	acceptor_gain	1.0000
20:33606955:GTTG:G	acceptor_gain	1.0000
20:33607096:GCAT:G	donor_gain	1.0000
20:33607100:G:GG	donor_gain	1.0000
20:33611092:A:AG	acceptor_gain	1.0000
20:33611093:G:GG	acceptor_gain	1.0000
20:33611093:GTAA:G	acceptor_gain	1.0000
20:33623112:A:AG	acceptor_gain	1.0000
20:33623112:AAG:A	acceptor_gain	1.0000
20:33623113:A:G	acceptor_gain	1.0000
20:33623114:G:GG	acceptor_gain	1.0000
20:33623292:GAGAG:G	donor_gain	1.0000
20:33623294:GAG:G	donor_gain	1.0000
20:33623296:GGTG:G	donor_loss	1.0000
20:33623297:G:GG	donor_gain	1.0000
20:33623297:GTGA:G	donor_loss	1.0000
20:33623298:T:A	donor_loss	1.0000
20:33629891:G:GT	donor_gain	1.0000
20:33636635:T:TA	acceptor_gain	1.0000
20:33636636:GCA:G	acceptor_loss	1.0000
20:33636638:A:AC	acceptor_loss	1.0000

AlphaMissense

3886 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:33611240:A:G	K118E	1.000
20:33611242:G:C	K118N	1.000
20:33611242:G:T	K118N	1.000
20:33611244:T:C	L119S	1.000
20:33611244:T:G	L119W	1.000
20:33611248:A:C	K120N	1.000
20:33611248:A:T	K120N	1.000
20:33611252:T:C	F122L	1.000
20:33611253:T:C	F122S	1.000
20:33611253:T:G	F122C	1.000
20:33611254:T:A	F122L	1.000
20:33611254:T:G	F122L	1.000
20:33611256:T:A	L123H	1.000
20:33611256:T:C	L123P	1.000
20:33611256:T:G	L123R	1.000
20:33611265:T:A	L126Q	1.000
20:33611265:T:C	L126P	1.000
20:33611265:T:G	L126R	1.000
20:33611273:T:A	F129I	1.000
20:33611273:T:C	F129L	1.000
20:33611273:T:G	F129V	1.000
20:33611274:T:C	F129S	1.000
20:33611274:T:G	F129C	1.000
20:33611275:T:A	F129L	1.000
20:33611275:T:G	F129L	1.000
20:33611276:G:C	G130R	1.000
20:33611277:G:A	G130D	1.000
20:33611300:G:T	G138W	1.000
20:33611301:G:A	G138E	1.000
20:33611301:G:T	G138V	1.000

dbSNP variants (sampled 300 via entrez): RS1000005213 (20:33606488 C>T), RS1000010370 (20:33505396 A>C), RS1000014598 (20:33571976 C>T), RS1000029626 (20:33640215 T>C,G), RS1000040888 (20:33549813 T>C), RS1000041946 (20:33575944 A>T), RS1000064289 (20:33613833 A>G), RS1000073306 (20:33624172 A>G), RS1000082074 (20:33505139 C>A), RS1000104269 (20:33625011 A>C), RS1000118445 (20:33646930 G>A), RS1000129200 (20:33537962 A>G), RS1000151255 (20:33525603 A>G), RS1000160498 (20:33538137 C>T), RS1000170187 (20:33567555 T>C)

Disease associations

OMIM: gene MIM:603672 | 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
GCST008163_21	Height	4.000000e-06
GCST010244_403	Triglyceride levels	3.000000e-10
GCST012227_1367	Hip circumference adjusted for BMI	6.000000e-28
GCST012227_1370	Hip circumference adjusted for BMI	6.000000e-17

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases methylation	4
Acetaminophen	increases expression	3
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
geraniol	increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
Sunitinib	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects methylation	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	decreases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Thiram	increases expression	1
Uranium	affects expression	1
Urethane	increases expression	1
Cyclosporine	increases expression	1
Lactic Acid	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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