MTF2

Summary

MTF2 (metal response element binding transcription factor 2, HGNC:29535) is a protein-coding gene on chromosome 1p22.1, encoding Metal-response element-binding transcription factor 2 (Q9Y483). Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at ‘Lys-36’ (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity.

Enables methylated histone binding activity and transcription corepressor binding activity. Predicted to be involved in several processes, including negative regulation of gene expression, epigenetic; segment specification; and stem cell population maintenance. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Located in cytoplasm and nucleoplasm.

Source: NCBI Gene 22823 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 65 total
• MANE Select transcript: NM_007358

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29535
Approved symbol	MTF2
Name	metal response element binding transcription factor 2
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	M96, PCL2, TDRD19A
Ensembl gene	ENSG00000143033
Ensembl biotype	protein_coding
OMIM	609882
Entrez	22823

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 9 protein_coding, 9 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000370298, ENST00000370303, ENST00000467953, ENST00000468457, ENST00000471953, ENST00000473430, ENST00000474314, ENST00000476037, ENST00000487263, ENST00000489480, ENST00000494963, ENST00000497976, ENST00000540243, ENST00000545708, ENST00000927799, ENST00000927800, ENST00000927801, ENST00000927802, ENST00000927803

RefSeq mRNA: 4 — MANE Select: NM_007358 NM_001164391, NM_001164392, NM_001164393, NM_007358

CCDS: CCDS53340, CCDS53341, CCDS742

Canonical transcript exons

ENST00000370298 — 15 exons

Exon	Start	End
ENSE00001631786	93136670	93139076
ENSE00001857125	93079283	93079531
ENSE00003463579	93110545	93110626
ENSE00003510485	93120549	93120672
ENSE00003515084	93114988	93115088
ENSE00003520186	93129278	93129448
ENSE00003537902	93127232	93127299
ENSE00003557422	93119333	93119401
ENSE00003561088	93134091	93134195
ENSE00003569532	93114688	93114783
ENSE00003573342	93133928	93133980
ENSE00003575469	93115470	93115618
ENSE00003584027	93133703	93133808
ENSE00003589783	93118345	93118440
ENSE00003665333	93110230	93110428

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 99.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.3085 / max 266.7659, expressed in 1692 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4052	10.0861	1675
4051	1.2074	593
4053	0.0150	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	99.77	gold quality
oocyte	CL:0000023	99.36	gold quality
adrenal tissue	UBERON:0018303	93.89	gold quality
bone marrow	UBERON:0002371	93.73	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.72	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.62	gold quality
thymus	UBERON:0002370	93.32	gold quality
trabecular bone tissue	UBERON:0002483	93.20	gold quality
buccal mucosa cell	CL:0002336	92.98	gold quality
bone marrow cell	CL:0002092	92.26	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.79	gold quality
embryo	UBERON:0000922	91.35	gold quality
nipple	UBERON:0002030	91.21	gold quality
calcaneal tendon	UBERON:0003701	91.07	gold quality
penis	UBERON:0000989	90.76	gold quality
biceps brachii	UBERON:0001507	90.68	gold quality
cerebellar vermis	UBERON:0004720	90.39	gold quality
colonic epithelium	UBERON:0000397	90.20	gold quality
ganglionic eminence	UBERON:0004023	90.01	gold quality
tonsil	UBERON:0002372	89.63	gold quality
triceps brachii	UBERON:0001509	89.56	gold quality
corpus callosum	UBERON:0002336	89.50	gold quality
pylorus	UBERON:0001166	89.32	gold quality
gluteal muscle	UBERON:0002000	88.56	gold quality
monocyte	CL:0000576	88.54	gold quality
lymph node	UBERON:0000029	88.45	gold quality
mononuclear cell	CL:0000842	88.38	gold quality
superior surface of tongue	UBERON:0007371	88.26	gold quality
leukocyte	CL:0000738	88.22	gold quality
palpebral conjunctiva	UBERON:0001812	88.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.94
E-CURD-112	yes	5.03
E-GEOD-110499	no	917.42

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

7 targets.

Target	Regulation
ACE2
CBX2
CDKN2A	Repression
MCAT
MTF2
NDUFB6
SHH	Repression

Upstream regulators (CollecTRI, top): KLF4, MTF2, NANOG, SSRP1

miRNA regulators (miRDB)

165 targeting MTF2, 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-8485	100.00	77.57	4731
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-9983-3P	99.94	71.48	3631

Literature-anchored findings (GeneRIF, showing 6)

• the F61L/S86F mutant of MTF2 Tudor-PHD1 was able to bind to H3K36me3 as strong as the PHF1 Tudor bound to this PTM . We concluded that the hydrophobic patch plays an essential role in binding of these Tudors to methylated chromatin (PMID:25923537)
• MTF2 Deficiency is associated with chemoresistance in Acute Myeloid Leukemia. (PMID:30115703)
• PHF19 mediated regulation of proliferation and invasiveness in prostate cancer cells. (PMID:32155117)
• Comprehensive Pan-Cancer Analysis of MTF2 Effects on Human Tumors. (PMID:37027952)
• Tissue-Specific Tumour Suppressor and Oncogenic Activities of the Polycomb-like Protein MTF2. (PMID:37895228)
• MTF2 facilitates the advancement of osteosarcoma through mediating EZH2/SFRP1/Wnt signaling. (PMID:39118123)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtf2	ENSDARG00000005590
mus_musculus	Mtf2	ENSMUSG00000029267
rattus_norvegicus	Mtf2	ENSRNOG00000000075
drosophila_melanogaster	Pcl	FBGN0003044

Paralogs (2): PHF1 (ENSG00000112511), PHF19 (ENSG00000119403)

Protein

Protein identifiers

Metal-response element-binding transcription factor 2 — Q9Y483 (reviewed: Q9Y483)

Alternative names: Metal regulatory transcription factor 2, Metal-response element DNA-binding protein M96, Polycomb-like protein 2

All UniProt accessions (2): Q9Y483, B4DZG1

UniProt curated annotations — full annotation on UniProt →

Function. Polycomb group (PcG) protein that specifically binds histone H3 trimethylated at ‘Lys-36’ (H3K36me3) and recruits the PRC2 complex, thus enhancing PRC2 H3K27me3 methylation activity. Regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation. Promotes recruitment of the PRC2 complex to the inactive X chromosome in differentiating XX ES cells and PRC2 recruitment to target genes in undifferentiated ES cells. Required to repress Hox genes by enhancing H3K27me3 methylation of the PRC2 complex. In some conditions may act as an inhibitor of PRC2 activity: able to activate the CDKN2A gene and promote cellular senescence by suppressing the catalytic activity of the PRC2 complex locally. Binds to the metal-regulating-element (MRE) of MT1A gene promoter.

Subunit / interactions. Associates with the PRC2 complex, which consists of the core components EED, EZH1 or EZH2, SUZ12, and RBBP4, and various combinations of accessory subunits including AEBP2, JARID2, PHF19, MTF2 and EPOP. Forms a dimeric PRC2.1 (class 1, PRC-PCL) complex consisting of at least SUZ12, RBBP4, and PHF19 or MTF2; PHF19 and MTF2 stabilize the dimeric structure which enhances PRC2 interaction with chromatin.

Subcellular location. Nucleus.

Domain organisation. The Tudor domain recognizes and binds H3K36me3.

Similarity. Belongs to the Polycomblike family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y483-1	1	yes
Q9Y483-2	2
Q9Y483-3	3
Q9Y483-4	4

RefSeq proteins (4): NP_001157863, NP_001157864, NP_001157865, NP_031384* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001965	Znf_PHD	Domain
IPR002999	Tudor	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR025894	Mtf2_C_dom	Domain
IPR040477	KDM4-like_Tudor	Domain
IPR042014	MTF2_PHD1	Domain
IPR042015	MTF2_PHD2	Domain

Pfam: PF00628, PF14061, PF18104

UniProt features (59 total): strand 15, helix 12, turn 10, compositionally biased region 5, splice variant 3, region of interest 3, modified residue 2, cross-link 2, zinc finger region 2, mutagenesis site 2, chain 1, domain 1, sequence variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5XFR	X-RAY DIFFRACTION	2.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y483-F1	71.33	0.52

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 (4): 24, 452, 360, 522

Mutagenesis-validated functional residues (2):

Position	Phenotype
338–339	abolishes chromatin binding activity of the prc2.1 complex.
544–557	reduced chromatin binding activity of the prc2.1 complex, probably due to loss of dimer stability.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-212300	PRC2 methylates histones and DNA
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 0 (showing top):

GO Biological Process (7): segment specification (GO:0007379), stem cell population maintenance (GO:0019827), epigenetic regulation of gene expression (GO:0040029), negative regulation of gene expression, epigenetic (GO:0045814), stem cell differentiation (GO:0048863), cellular response to leukemia inhibitory factor (GO:1990830), chromatin organization (GO:0006325)

GO Molecular Function (8): RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), transcription corepressor binding (GO:0001222), DNA binding (GO:0003677), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), histone H3K36me3 reader activity (GO:0140003), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), ESC/E(Z) complex (GO:0035098)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Epigenetic regulation of gene expression	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
pattern specification process	1
segmentation	1
multicellular organismal process	1
maintenance of cell number	1
chromatin remodeling	1
regulation of gene expression	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
cell differentiation	1
cellular response to cytokine stimulus	1
response to leukemia inhibitory factor	1
cellular component organization	1
transcription cis-regulatory region binding	1
transcription coregulator binding	1
nucleic acid binding	1
transition metal ion binding	1
histone H3 reader activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
PcG protein complex	1
histone methyltransferase complex	1

Protein interactions and networks

STRING

1130 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTF2	JARID2	Q92833	990
MTF2	EPOP	A6NHQ4	988
MTF2	SUZ12	Q15022	983
MTF2	EZH2	Q15910	974
MTF2	PHF19	Q5T6S3	941
MTF2	AEBP2	Q6ZN18	926
MTF2	PHF1	O43189	912
MTF2	LCOR	Q96JN0	890
MTF2	RBBP4	P31149	828
MTF2	RBBP7	Q16576	781
MTF2	MT2A	P02795	763
MTF2	EZH1	Q92800	758
MTF2	EED	O75530	720
MTF2	H3-4	Q16695	627
MTF2	H3C14	Q71DI3	624
MTF2	H3-7	Q5TEC6	624

IntAct

65 interactions, top by confidence:

A	B	Type	Score
EZH2	PHF1	psi-mi:“MI:0914”(association)	0.900
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
EZH2	EPOP	psi-mi:“MI:0914”(association)	0.730
RBBP7	HAT1	psi-mi:“MI:0914”(association)	0.730
SUZ12	EPOP	psi-mi:“MI:0914”(association)	0.640
MTF2	EED	psi-mi:“MI:0914”(association)	0.640
LCOR	PHF1	psi-mi:“MI:0914”(association)	0.640
JARID2	EED	psi-mi:“MI:0914”(association)	0.640
EED	EPOP	psi-mi:“MI:0914”(association)	0.530
TGDS	GABARAP	psi-mi:“MI:0914”(association)	0.530
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
RBBP7	SMARCA5	psi-mi:“MI:0914”(association)	0.530
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530
EZH1	EPOP	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
H3C1		psi-mi:“MI:0915”(physical association)	0.400
CREB1	MTF2	psi-mi:“MI:0915”(physical association)	0.370
TMED9	MTF2	psi-mi:“MI:0915”(physical association)	0.370
MTF2	GSK3B	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (160): MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Two-hybrid), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS), MTF2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0R4IXF6, A0JMR6, A5WW08, F4HRV8, O17482, O60934, O88974, O94988, P12757, P14629, P49021, P79457, Q08AW4, Q08D35, Q12789, Q28C33, Q2TB10, Q3B7T1, Q3UD82, Q3UWM4, Q498F0, Q5F363, Q5F3F2, Q5FWP4, Q5HYC2, Q5JSH3, Q5R431, Q5R7T9, Q5R9R1, Q5RGA4, Q5VVJ2, Q60665, Q63505, Q69Z66, Q6GQV7, Q6INA9, Q6NVE8, Q6P256, Q6ZMT4, Q8C5W4

Diamond homologs: O43189, Q02395, Q0V9U1, Q24459, Q32LL5, Q5R7T9, Q5RCV7, Q5T6S3, Q68FR3, Q6DJM6, Q6IQU7, Q8WNV2, Q96CB8, Q9CXG9, Q9D168, Q9VBB3, Q9Y483, Q9Z1B8, O74759, P48785, P87233, Q09908, Q54DV0, A2AUY4, Q12311, Q9DE13, O60070, F4JL28, Q08D35, Q9W0T1, Q8CID0, Q9H8E8, Q6IE82, Q7YZH1, Q7ZVP1, Q92613

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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
Transcriptional Regulation by E2F6	6	35.9×	6e-07
PRC2 methylates histones and DNA	11	34.2×	4e-12
PKMTs methylate histone lysines	9	29.5×	3e-09
Defective pyroptosis	8	25.5×	6e-08
Regulation of PTEN gene transcription	7	25.5×	5e-07
Negative Regulation of CDH1 Gene Transcription	9	22.1×	3e-08
Regulation of PD-L1(CD274) transcription	8	17.8×	6e-07
Deposition of new CENPA-containing nucleosomes at the centromere	5	16.2×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	5	20.9×	4e-04
methylation	5	13.9×	2e-03
nucleosome assembly	6	13.8×	4e-04
chromatin organization	8	13.0×	3e-05
chromatin remodeling	9	10.8×	3e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	41
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2625 predictions. Top by Δscore:

Variant	Effect	Δscore
1:93114677:A:AG	acceptor_gain	1.0000
1:93114678:A:AG	acceptor_gain	1.0000
1:93114680:T:G	acceptor_gain	1.0000
1:93114681:A:AG	acceptor_gain	1.0000
1:93114683:TTTAG:T	acceptor_loss	1.0000
1:93114686:A:AG	acceptor_gain	1.0000
1:93114686:AG:A	acceptor_gain	1.0000
1:93114687:G:GA	acceptor_gain	1.0000
1:93114687:GG:G	acceptor_gain	1.0000
1:93114687:GGA:G	acceptor_gain	1.0000
1:93114687:GGAGC:G	acceptor_gain	1.0000
1:93114780:CAAG:C	donor_loss	1.0000
1:93114781:AAGGT:A	donor_loss	1.0000
1:93114782:AGG:A	donor_loss	1.0000
1:93114784:G:GC	donor_loss	1.0000
1:93114785:T:G	donor_loss	1.0000
1:93115463:A:AG	acceptor_gain	1.0000
1:93115468:A:AG	acceptor_gain	1.0000
1:93115468:AGAG:A	acceptor_gain	1.0000
1:93115468:AGAGG:A	acceptor_gain	1.0000
1:93115469:G:GG	acceptor_gain	1.0000
1:93115469:GAGG:G	acceptor_gain	1.0000
1:93115469:GAGGG:G	acceptor_gain	1.0000
1:93115614:GGAGA:G	donor_gain	1.0000
1:93115615:GAGA:G	donor_gain	1.0000
1:93115615:GAGAG:G	donor_gain	1.0000
1:93115616:AGA:A	donor_gain	1.0000
1:93115617:GA:G	donor_gain	1.0000
1:93115617:GAG:G	donor_gain	1.0000
1:93115617:GAGTA:G	donor_loss	1.0000

AlphaMissense

3887 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:93110379:T:A	V52D	1.000
1:93110382:T:C	L53P	1.000
1:93110385:C:A	A54D	1.000
1:93110390:T:A	W56R	1.000
1:93110390:T:C	W56R	1.000
1:93110396:G:C	D58H	1.000
1:93110396:G:T	D58Y	1.000
1:93110397:A:C	D58A	1.000
1:93110397:A:T	D58V	1.000
1:93110408:T:G	Y62D	1.000
1:93110414:G:C	G64R	1.000
1:93110415:G:A	G64D	1.000
1:93110566:T:C	C76R	1.000
1:93110568:C:G	C76W	1.000
1:93110578:T:A	F80I	1.000
1:93110578:T:C	F80L	1.000
1:93110578:T:G	F80V	1.000
1:93110579:T:C	F80S	1.000
1:93110580:T:A	F80L	1.000
1:93110580:T:G	F80L	1.000
1:93110584:G:C	D82H	1.000
1:93110585:A:C	D82A	1.000
1:93110585:A:T	D82V	1.000
1:93114714:T:A	C105S	1.000
1:93114714:T:C	C105R	1.000
1:93114715:G:A	C105Y	1.000
1:93114715:G:C	C105S	1.000
1:93114716:T:G	C105W	1.000
1:93114723:T:C	C108R	1.000
1:93114765:T:A	C122S	1.000

dbSNP variants (sampled 300 via entrez): RS1000180798 (1:93122635 T>C), RS1000195800 (1:93096171 T>C), RS1000211169 (1:93078480 A>T), RS1000243893 (1:93078164 A>G), RS1000280735 (1:93115785 G>A), RS1000296530 (1:93108338 G>A), RS1000325886 (1:93108684 A>C,G), RS1000405893 (1:93090468 G>A), RS1000452498 (1:93137414 G>C), RS1000469430 (1:93137295 T>C), RS1000535251 (1:93089830 T>C), RS1000549751 (1:93121323 A>G), RS1000616669 (1:93123040 C>T), RS1000629954 (1:93130183 T>G), RS1000690603 (1:93083300 G>A,C,T)

Disease associations

OMIM: gene MIM:609882 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST003133_9	Plasma clusterin levels	5.000000e-06
GCST006248_13	Response to lurasidone in schizophrenia	9.000000e-07
GCST007576_212	Chronotype	2.000000e-08
GCST008522_89	Bitter alcoholic beverage consumption	7.000000e-06
GCST010173_92	Triglyceride levels	3.000000e-10
GCST90002381_580	Eosinophil count	7.000000e-25
GCST90002382_4	Eosinophil percentage of white cells	3.000000e-22

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007656	plasma clusterin measurement
EFO:0008328	chronotype measurement
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0004530	triglyceride measurement
EFO:0004842	eosinophil count
EFO:0007991	eosinophil percentage of leukocytes

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation	7
Arsenic Trioxide	decreases reaction, increases response to substance, affects binding	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
aristolochic acid I	decreases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
zinc chloride	decreases expression	1
sodium arsenite	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
CGP 52608	affects binding, increases reaction	1
deguelin	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
ICG 001	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Amphotericin B	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Formaldehyde	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Progesterone	increases expression	1
Rotenone	decreases expression	1
Selenium	decreases expression	1
Vitamin E	decreases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SZ14	HAP1 MTF2 (-) 1	Cancer cell line	Male
CVCL_SZ15	HAP1 MTF2 (-) 2	Cancer cell line	Male
CVCL_SZ16	HAP1 MTF2 (-) 3	Cancer cell line	Male
CVCL_SZ17	HAP1 MTF2 (-) 4	Cancer cell line	Male
CVCL_SZ18	HAP1 MTF2 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

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