PBXIP1

Summary

PBXIP1 (PBX homeobox interacting protein 1, HGNC:21199) is a protein-coding gene on chromosome 1q21.3, encoding Pre-B-cell leukemia transcription factor-interacting protein 1 (Q96AQ6). Regulator of pre-B-cell leukemia transcription factors (BPXs) function.

The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined.

Source: NCBI Gene 57326 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 137 total
• MANE Select transcript: NM_020524

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21199
Approved symbol	PBXIP1
Name	PBX homeobox interacting protein 1
Location	1q21.3
Locus type	gene with protein product
Status	Approved
Aliases	HPIP
Ensembl gene	ENSG00000163346
Ensembl biotype	protein_coding
OMIM	618819
Entrez	57326

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000368460, ENST00000368463, ENST00000368465, ENST00000490230, ENST00000493133, ENST00000498553, ENST00000905130, ENST00000905131, ENST00000905132, ENST00000905133, ENST00000905134, ENST00000905135, ENST00000905136, ENST00000920040, ENST00000964405, ENST00000964406, ENST00000964407, ENST00000964408, ENST00000964409

RefSeq mRNA: 3 — MANE Select: NM_020524 NM_001317734, NM_001317735, NM_020524

CCDS: CCDS1074, CCDS81382

Canonical transcript exons

ENST00000368463 — 11 exons

Exon	Start	End
ENSE00001073591	154944080	154945117
ENSE00001073601	154947417	154947548
ENSE00001073603	154951795	154951921
ENSE00001073606	154945572	154946803
ENSE00001421717	154956069	154956099
ENSE00003485685	154947642	154947712
ENSE00003562148	154951232	154951397
ENSE00003577937	154951471	154951535
ENSE00003622882	154948133	154948366
ENSE00003641626	154953671	154953757
ENSE00003644801	154947982	154948005

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 34.3200 / max 481.0951, expressed in 1795 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14860	33.8529	1795
14857	0.2489	59
14854	0.0765	13
14858	0.0736	20
14855	0.0320	11
14856	0.0245	15
14859	0.0116	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	98.54	gold quality
choroid plexus epithelium	UBERON:0003911	98.46	gold quality
right coronary artery	UBERON:0001625	98.41	gold quality
pituitary gland	UBERON:0000007	98.38	gold quality
adenohypophysis	UBERON:0002196	98.34	gold quality
descending thoracic aorta	UBERON:0002345	98.21	gold quality
right adrenal gland cortex	UBERON:0035827	98.15	gold quality
mucosa of stomach	UBERON:0001199	98.13	gold quality
popliteal artery	UBERON:0002250	98.01	gold quality
tibial artery	UBERON:0007610	98.00	gold quality
aorta	UBERON:0000947	97.93	gold quality
right adrenal gland	UBERON:0001233	97.90	gold quality
thoracic aorta	UBERON:0001515	97.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	97.88	gold quality
ascending aorta	UBERON:0001496	97.86	gold quality
lower esophagus muscularis layer	UBERON:0035833	97.86	gold quality
granulocyte	CL:0000094	97.84	gold quality
lower esophagus	UBERON:0013473	97.83	gold quality
adrenal cortex	UBERON:0001235	97.65	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	97.62	gold quality
left adrenal gland cortex	UBERON:0035825	97.57	gold quality
right ovary	UBERON:0002118	97.55	gold quality
cranial nerve II	UBERON:0000941	97.51	gold quality
nucleus accumbens	UBERON:0001882	97.51	gold quality
left ovary	UBERON:0002119	97.47	gold quality
left adrenal gland	UBERON:0001234	97.46	gold quality
muscle layer of sigmoid colon	UBERON:0035805	97.44	gold quality
adrenal gland	UBERON:0002369	97.37	gold quality
coronary artery	UBERON:0001621	97.20	gold quality
left coronary artery	UBERON:0001626	97.14	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-CURD-122	yes	43.94
E-MTAB-8142	yes	43.89
E-MTAB-8410	yes	25.59
E-HCAD-1	yes	16.19
E-CURD-46	yes	15.88
E-GEOD-84465	yes	11.04
E-GEOD-124858	no	44.49
E-CURD-120	no	42.77
E-CURD-112	no	3.53
E-ENAD-27	no	3.42
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, GATA1

miRNA regulators (miRDB)

46 targeting PBXIP1, 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-4692	100.00	67.32	2066
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-3913-3P	99.74	66.53	938
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4434	99.10	67.01	1984

Literature-anchored findings (GeneRIF, showing 10)

• HPIP is a target of GATA1 and CTCF in erythroid cells and plays an important role in erythroid differentiation by modulating the PI3K/AKT pathway (PMID:22187427)
• These data highlight the important role of HPIP in liver cancer cell growth and suggest that HPIP may be a good target for liver cancer therapy. (PMID:24038948)
• PBXIP1 is a novel protein overexpressed in astrocytoma and ependymoma, involved in tumor cell proliferation and migration (PMID:24470547)
• HPIP may play critical role in oral carcinogenesis and is potential target for anticancer therapy, with particular emphasis on its involvement in differentiation and migration/metastasis. (PMID:25060351)
• Copy number variations in PBXIP1 gene is associated with lung adenocarcinoma. (PMID:26497366)
• our findings identified HPIP plays an important role in the progression and EMT of spinal glioblastoma, by which cell growth is improved. Thus, HPIP gene or protein could act as a useful target in the clinical practice. (PMID:26590606)
• Knockdown of HPIP suppressed TGF-beta1-induced EMT. (PMID:27178820)
• HPIP promotes gastric cancer cell proliferation through positive regulation of cap-dependent translation. (PMID:27748944)
• HPIP is overexpressed in pancreatic ductal adenocarcinoma tissue. Knockdown of HPIP promotes the apoptosis and inhibits the proliferation and G0/G1 to S transition of PDAC cells. (PMID:32131934)
• HPIP and RUFY3 are noncanonical guanine nucleotide exchange factors of Rab5 to regulate endocytosis-coupled focal adhesion turnover. (PMID:37797694)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Pbxip1	ENSMUSG00000042613
rattus_norvegicus	Pbxip1	ENSRNOG00000020673

Protein

Protein identifiers

Pre-B-cell leukemia transcription factor-interacting protein 1 — Q96AQ6 (reviewed: Q96AQ6)

Alternative names: Hematopoietic PBX-interacting protein

All UniProt accessions (3): F2Z2Z8, Q96AQ6, Q5T173

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of pre-B-cell leukemia transcription factors (BPXs) function. Inhibits the binding of PBX1-HOX complex to DNA and blocks the transcriptional activity of E2A-PBX1. Tethers estrogen receptor-alpha (ESR1) to microtubules and allows them to influence estrogen receptors-alpha signaling.

Subunit / interactions. Interacts with TEX11. Interacts with ESR1, PBX1, PBX2 and PBX3.

Subcellular location. Cytoplasm. Cytoskeleton. Nucleus.

Tissue specificity. Expressed in early hematopoietic precursors.

Domain organisation. The C-terminal domain (AA 443-731) contains a nuclear export signal. Association to the cytoskeleton through a N-terminal leucine rich-domain (AA 190-218).

Isoforms (3)

UniProt ID	Names	Canonical?
Q96AQ6-1	1	yes
Q96AQ6-2	2
Q96AQ6-3	3

RefSeq proteins (3): NP_001304663, NP_001304664, NP_065385* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051990	CCPG1/PBIP1	Family

UniProt features (33 total): compositionally biased region 8, modified residue 7, region of interest 4, sequence conflict 4, splice variant 2, sequence variant 2, coiled-coil region 2, short sequence motif 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AQ6-F1	57.96	0.10

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 (7): 43, 129, 146, 147, 148, 152, 567

Mutagenesis-validated functional residues (1):

Position	Phenotype
615–619	reduces interaction with esr1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 302 (showing top): KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_INFLAMMATORY_RESPONSE, RORA1_01, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, TAL1ALPHAE47_01, GOBP_REGULATION_OF_WNT_SIGNALING_PATHWAY, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, AACWWCAANK_UNKNOWN, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_PRODUCTION_OF_MOLECULAR_MEDIATOR_INVOLVED_IN_INFLAMMATORY_RESPONSE, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN

GO Biological Process (13): production of molecular mediator involved in inflammatory response (GO:0002532), regulation of DNA-templated transcription (GO:0006355), cell adhesion (GO:0007155), cell migration (GO:0016477), extracellular matrix disassembly (GO:0022617), hemopoiesis (GO:0030097), positive regulation of Wnt signaling pathway (GO:0030177), negative regulation of DNA-templated transcription (GO:0045892), articular cartilage development (GO:0061975), gene expression involved in extracellular matrix organization (GO:1901148), positive regulation of chondrocyte proliferation (GO:1902732), gene expression (GO:0010467), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (5): transcription coregulator activity (GO:0003712), transcription coactivator activity (GO:0003713), transcription corepressor activity (GO:0003714), DNA-binding transcription factor binding (GO:0140297), protein binding (GO:0005515)

GO Cellular Component (8): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytosol (GO:0005829), microtubule (GO:0005874), cytoplasm (GO:0005737), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
DNA-templated transcription	3
extracellular matrix organization	2
regulation of DNA-templated transcription	2
transcription coregulator activity	2
inflammatory response	1
multicellular organismal process	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cellular process	1
cell motility	1
cellular component disassembly	1
cell development	1
positive regulation of signal transduction	1
Wnt signaling pathway	1
regulation of Wnt signaling pathway	1
negative regulation of RNA biosynthetic process	1
cartilage development	1
gene expression	1
positive regulation of cell population proliferation	1
chondrocyte proliferation	1
macromolecule biosynthetic process	1
positive regulation of RNA biosynthetic process	1
transcription regulator activity	1
positive regulation of DNA-templated transcription	1
negative regulation of DNA-templated transcription	1
transcription factor binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
protein-containing complex	1
cytoplasm	1
microtubule cytoskeleton	1
polymeric cytoskeletal fiber	1
intracellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

644 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PBXIP1	PBX1	P40424	616
PBXIP1	ESR1	P03372	520
PBXIP1	DCST2	Q5T1A1	478
PBXIP1	GJC3	Q8NFK1	430
PBXIP1	RSPH1	Q8WYR4	418
PBXIP1	PDLIM4	P50479	408
PBXIP1	CNN3	Q15417	407
PBXIP1	ZMAT2	Q96NC0	391
PBXIP1	RGMA	Q96B86	391
PBXIP1	FOLR1	P15328	368
PBXIP1	PMVK	Q15126	353
PBXIP1	RAB38	P57729	338
PBXIP1	INTS15	Q96N11	321
PBXIP1	KANSL1	Q7Z3B3	318
PBXIP1	DCST1	Q5T197	300

IntAct

177 interactions, top by confidence:

A	B	Type	Score
PBXIP1	WASHC3	psi-mi:“MI:0915”(physical association)	0.710
MDFI	PBXIP1	psi-mi:“MI:0915”(physical association)	0.710
WASHC3	PBXIP1	psi-mi:“MI:0915”(physical association)	0.710
PBXIP1	CCNC	psi-mi:“MI:0915”(physical association)	0.670
SGTA	PBXIP1	psi-mi:“MI:0915”(physical association)	0.670
PBXIP1	GMCL1	psi-mi:“MI:0915”(physical association)	0.670
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
STX12	SNAP23	psi-mi:“MI:0914”(association)	0.640
SLC16A3	CASK	psi-mi:“MI:0914”(association)	0.590
PBXIP1	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560
DEF6	PBXIP1	psi-mi:“MI:0915”(physical association)	0.560
PBXIP1	MORF4L1	psi-mi:“MI:0915”(physical association)	0.560
PBXIP1	DAXX	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	PBXIP1	psi-mi:“MI:0915”(physical association)	0.560
FLJ13057	PBXIP1	psi-mi:“MI:0915”(physical association)	0.560
PBXIP1	DEF6	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (291): PBXIP1 (Two-hybrid), PBXIP1 (Two-hybrid), PBXIP1 (Two-hybrid), PBXIP1 (Two-hybrid), PBXIP1 (Two-hybrid), PBXIP1 (Two-hybrid), GMCL1 (Two-hybrid), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS), PBXIP1 (Affinity Capture-MS)

ESM2 similar proteins: A2VD12, A6NCC3, A6NN73, A6QLY7, D6RF30, E1U8D0, F8WBI6, H3BPF8, H3BQL2, H3BSY2, H3BV12, I6L899, O75154, P0DX52, P0DX53, P10354, Q0D2H9, Q0KK56, Q2NL23, Q2TAC2, Q2YDF7, Q3MI48, Q3TVI8, Q3UHU5, Q3UPH7, Q5DU05, Q5JYT7, Q5R6R3, Q5SX79, Q640L3, Q6P2H3, Q6PHN1, Q7Z591, Q7Z6P3, Q80VW7, Q8BWG4, Q8CB62, Q8CB87, Q8IY92, Q8N137

Diamond homologs: A2VD12, A6QLY7, Q3TVI8, Q5R6R3, Q5ZM60, Q96AQ6, Q9ULG6, Q640L3

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
MDM2	“down-regulates quantity by destabilization”	PBXIP1	polyubiquitination
TBK1	“down-regulates quantity by destabilization”	PBXIP1	phosphorylation
PBXIP1	“down-regulates activity”	PBX1	binding
PBXIP1	“down-regulates activity”	PBX2	binding
IKBKE	“down-regulates quantity by destabilization”	PBXIP1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 177 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
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	5	17.7×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	106
Likely benign	8
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1548 predictions. Top by Δscore:

Variant	Effect	Δscore
1:154945744:C:CT	acceptor_gain	1.0000
1:154946804:C:CC	acceptor_gain	1.0000
1:154947544:CCATC:C	acceptor_gain	1.0000
1:154947545:CATC:C	acceptor_gain	1.0000
1:154947545:CATCC:C	acceptor_gain	1.0000
1:154947546:ATC:A	acceptor_gain	1.0000
1:154947547:TC:T	acceptor_gain	1.0000
1:154947548:CC:C	acceptor_gain	1.0000
1:154947549:C:CC	acceptor_gain	1.0000
1:154947549:CTG:C	acceptor_loss	1.0000
1:154947550:T:G	acceptor_loss	1.0000
1:154947640:A:AG	donor_loss	1.0000
1:154947708:GGGCC:G	acceptor_gain	1.0000
1:154947709:GGCC:G	acceptor_gain	1.0000
1:154947710:GCC:G	acceptor_gain	1.0000
1:154947711:CC:C	acceptor_gain	1.0000
1:154947711:CCC:C	acceptor_gain	1.0000
1:154947712:CC:C	acceptor_gain	1.0000
1:154947713:C:CA	acceptor_loss	1.0000
1:154947713:C:CC	acceptor_gain	1.0000
1:154948362:CCAAG:C	acceptor_gain	1.0000
1:154948363:CAAG:C	acceptor_gain	1.0000
1:154948363:CAAGC:C	acceptor_gain	1.0000
1:154948364:AAG:A	acceptor_gain	1.0000
1:154948365:AG:A	acceptor_gain	1.0000
1:154948367:C:CC	acceptor_gain	1.0000
1:154948367:CTAGG:C	acceptor_loss	1.0000
1:154948368:T:G	acceptor_loss	1.0000
1:154951394:TGCC:T	acceptor_gain	1.0000
1:154951396:CC:C	acceptor_gain	1.0000

AlphaMissense

4762 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:154945728:A:G	F649S	0.994
1:154947421:A:G	L289P	0.992
1:154945707:A:G	F656S	0.990
1:154947428:C:G	A287P	0.990
1:154945728:A:C	F649C	0.989
1:154947433:A:G	L285P	0.988
1:154945727:G:C	F649L	0.984
1:154945727:G:T	F649L	0.984
1:154945729:A:G	F649L	0.984
1:154947463:A:G	L275P	0.983
1:154945623:A:G	F684S	0.980
1:154945674:A:G	L667S	0.978
1:154945890:G:T	A595D	0.978
1:154948157:C:G	G207R	0.976
1:154945707:A:C	F656C	0.975
1:154945893:C:G	C594S	0.975
1:154945894:A:T	C594S	0.975
1:154945611:A:T	I688N	0.974
1:154953689:C:A	W11C	0.974
1:154953689:C:G	W11C	0.974
1:154947461:C:G	A276P	0.973
1:154945698:A:G	F659S	0.972
1:154945706:G:C	F656L	0.972
1:154945706:G:T	F656L	0.972
1:154945708:A:G	F656L	0.972
1:154945723:G:C	H651D	0.971
1:154953691:A:G	W11R	0.971
1:154953691:A:T	W11R	0.971
1:154945662:G:T	A671D	0.970
1:154945686:A:G	L663P	0.970

dbSNP variants (sampled 300 via entrez): RS1000185059 (1:154949393 G>A), RS1000574396 (1:154944610 C>T), RS1000697790 (1:154955201 G>A), RS1000821281 (1:154956878 A>G), RS1000922947 (1:154944346 A>G), RS1001117725 (1:154954977 C>T), RS1001365678 (1:154949569 G>A), RS1001642769 (1:154949969 C>A), RS1001714800 (1:154950277 T>C), RS1002054998 (1:154948633 C>A,T), RS1002527163 (1:154945000 G>A), RS1002634651 (1:154955289 G>T), RS1002648634 (1:154951732 G>A), RS1002707535 (1:154952109 C>T), RS1002974282 (1:154955625 T>G)

Disease associations

OMIM: gene MIM:618819 | 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
GCST001942_19	Prostate cancer	2.000000e-08
GCST003602_3	Inflammatory bowel disease	2.000000e-09
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST008103_81	Bipolar disorder	1.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004341	body fat distribution

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, decreases expression, increases expression	4
sodium arsenite	decreases expression, affects cotreatment, increases abundance	2
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
bisphenol A	increases expression	1
deoxynivalenol	decreases expression	1
trichostatin A	decreases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
cupric chloride	decreases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
pentanal	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
corosolic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	increases expression	1
jinfukang	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1

Clinical trials (associated diseases)

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