SYF2

Summary

SYF2 (SYF2 pre-mRNA splicing factor, HGNC:19824) is a protein-coding gene on chromosome 1p36.11, encoding Pre-mRNA-splicing factor SYF2 (O95926). Involved in pre-mRNA splicing as component of the spliceosome. It is a common-essential gene (DepMap: required in 96.2% of cancer cell lines).

This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Source: NCBI Gene 25949 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 21 total
• Cancer dependency (DepMap): dependent in 96.2% of screened cell lines (common-essential)
• MANE Select transcript: NM_015484

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19824
Approved symbol	SYF2
Name	SYF2 pre-mRNA splicing factor
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	p29, DKFZp564O2082, NTC31, fSAP29
Ensembl gene	ENSG00000117614
Ensembl biotype	protein_coding
OMIM	607090
Entrez	25949

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000236273, ENST00000354361, ENST00000474160, ENST00000476231, ENST00000897355, ENST00000897356, ENST00000935011, ENST00000935012, ENST00000935013

RefSeq mRNA: 2 — MANE Select: NM_015484 NM_015484, NM_207170

CCDS: CCDS258, CCDS259

Canonical transcript exons

ENST00000236273 — 7 exons

Exon	Start	End
ENSE00000759715	25225002	25225100
ENSE00000759716	25227442	25227532
ENSE00000759717	25228118	25228235
ENSE00000759718	25228998	25229123
ENSE00000839659	25232104	25232211
ENSE00001304520	25222276	25223431
ENSE00001820893	25232444	25232502

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 98.97.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 69.1623 / max 1099.1475, expressed in 1821 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11083	49.0466	1813
11082	17.8863	1774
11079	1.3962	737
11080	0.7380	434
11081	0.0952	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	98.97	gold quality
monocyte	CL:0000576	97.91	gold quality
mononuclear cell	CL:0000842	97.85	gold quality
leukocyte	CL:0000738	97.68	gold quality
tendon	UBERON:0000043	97.06	gold quality
tibial artery	UBERON:0007610	96.89	gold quality
popliteal artery	UBERON:0002250	96.88	gold quality
left ovary	UBERON:0002119	96.82	gold quality
descending thoracic aorta	UBERON:0002345	96.68	gold quality
mucosa of stomach	UBERON:0001199	96.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.59	gold quality
endocervix	UBERON:0000458	96.47	gold quality
aorta	UBERON:0000947	96.41	gold quality
rectum	UBERON:0001052	96.34	gold quality
parotid gland	UBERON:0001831	96.23	gold quality
ganglionic eminence	UBERON:0004023	96.19	gold quality
ovary	UBERON:0000992	96.05	gold quality
right ovary	UBERON:0002118	96.03	gold quality
right lung	UBERON:0002167	95.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	95.92	gold quality
right coronary artery	UBERON:0001625	95.87	gold quality
thoracic aorta	UBERON:0001515	95.81	gold quality
cranial nerve II	UBERON:0000941	95.80	gold quality
ascending aorta	UBERON:0001496	95.75	gold quality
palpebral conjunctiva	UBERON:0001812	95.64	gold quality
superficial temporal artery	UBERON:0001614	95.63	gold quality
left coronary artery	UBERON:0001626	95.56	gold quality
mammary duct	UBERON:0001765	95.56	gold quality
body of uterus	UBERON:0009853	95.55	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.30
E-CURD-122	yes	5.73

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting SYF2, 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-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.2% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• novel function of p29 in the regulation of DNA replication checkpoint responses in Hela cells. (PMID:16951160)
• SYF2 in glioma is essential for cell proliferation. (PMID:24985881)
• Our findings for the first time supported that SYF2 might play an important role in the regulation of esophageal squamous cell carcinoma proliferation (PMID:25034528)
• p29 might contribute to the progression of non-small cell lung cancer by enhancing cell proliferation, implicating that targeting p29 might provide beneficial effects on the clinical therapy of non-small cell lung cancer (PMID:25433998)
• we support that SYF2 might contribute to EOC progression via modulation of proliferation in EOC cells and would provide a novel therapeutic target of human epithelial ovarian cancer (PMID:25623116)
• SYF2 might play a regulatory role in the proliferation of hepatocellular carcinoma cells. (PMID:26260052)
• LncRNA HOST2 enhances gefitinib-resistance in non-small cell lung cancer by down-regulating miRNA-621. (PMID:31799663)
• These data identify Aletrnative splicing programs controlled by ZRANB2 and SYF2 and converging on ECT2, that participate to breast cancer cell resistance to doxorubicin. (PMID:31943118)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	syf2	ENSDARG00000004706
mus_musculus	Syf2	ENSMUSG00000028821
rattus_norvegicus	Syf2	ENSRNOG00000060597
drosophila_melanogaster	CG12343	FBGN0033556
caenorhabditis_elegans		WBGENE00019402

Protein

Protein identifiers

Pre-mRNA-splicing factor SYF2 — O95926 (reviewed: O95926)

Alternative names: CCNDBP1-interactor, p29

All UniProt accessions (1): O95926

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as component of the spliceosome.

Subunit / interactions. Identified in the spliceosome C complex. Interacts with CCNDBP1.

Subcellular location. Nucleus.

Tissue specificity. Abundantly expressed in the heart, skeletal muscle and kidney. Expressed at lower level other tissues.

Similarity. Belongs to the SYF2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O95926-1	1	yes
O95926-2	2

RefSeq proteins (2): NP_056299, NP_997053 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013260	mRNA_splic_SYF2	Family

Pfam: PF08231

UniProt features (17 total): helix 6, strand 2, cross-link 2, initiator methionine 1, chain 1, turn 1, coiled-coil region 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
6ID0	ELECTRON MICROSCOPY	2.9
6ICZ	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
8I0W	ELECTRON MICROSCOPY	3.4
8RO2	ELECTRON MICROSCOPY	3.5
5XJC	ELECTRON MICROSCOPY	3.6
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
5YZG	ELECTRON MICROSCOPY	4.1
7W5B	ELECTRON MICROSCOPY	4.3
7A5P	ELECTRON MICROSCOPY	5
5MQF	ELECTRON MICROSCOPY	5.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95926-F1	87.27	0.56

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 (3): 2, 143, 234

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 161 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_MITOTIC_G2_M_TRANSITION_CHECKPOINT, GOBP_REGULATION_OF_CELL_CYCLE_G2_M_PHASE_TRANSITION, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, BLALOCK_ALZHEIMERS_DISEASE_UP, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_REGULATION_OF_CELL_CYCLE, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_MITOTIC_G2_DNA_DAMAGE_CHECKPOINT_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_RNA_SPLICING, GOBP_GASTRULATION

GO Biological Process (8): mRNA splicing, via spliceosome (GO:0000398), in utero embryonic development (GO:0001701), mitotic G2 DNA damage checkpoint signaling (GO:0007095), gastrulation (GO:0007369), positive regulation of cell population proliferation (GO:0008284), embryonic organ development (GO:0048568), mRNA processing (GO:0006397), RNA splicing (GO:0008380)

GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)

GO Cellular Component (8): Prp19 complex (GO:0000974), nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear speck (GO:0016607), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), post-mRNA release spliceosomal complex (GO:0071014), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
mRNA Splicing	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	2
spliceosomal complex	2
U5 snRNP	2
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
chordate embryonic development	1
mitotic G2 phase	1
mitotic DNA damage checkpoint signaling	1
mitotic G2/M transition checkpoint	1
ectoderm formation	1
endoderm formation	1
mesoderm formation	1
embryonic morphogenesis	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
embryo development	1
animal organ development	1
mRNA metabolic process	1
nucleic acid binding	1
binding	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nuclear ribonucleoprotein granule	1
U2-type spliceosomal complex	1
U2 snRNP	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
catalytic complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

1531 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SYF2	CCNDBP1	O95273	955
SYF2	XAB2	Q9HCS7	887
SYF2	CDC5L	Q99459	883
SYF2	CRNKL1	Q9BZJ0	883
SYF2	BCAS2	O75934	775
SYF2	PLRG1	O43660	737
SYF2	PPIL1	Q9Y3C6	729
SYF2	YJU2	Q9BW85	710
SYF2	CDC40	O60508	693
SYF2	RBM22	Q9NW64	665
SYF2	DHX38	Q92620	645
SYF2	MCM3	P25205	629
SYF2	CWC25	Q9NXE8	625
SYF2	EFTUD2	Q15029	618
SYF2	SLU7	O95391	606

IntAct

76 interactions, top by confidence:

A	B	Type	Score
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
SYF2	AQR	psi-mi:“MI:0914”(association)	0.730
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNW1	AQR	psi-mi:“MI:0914”(association)	0.650
DHX8	AHCYL1	psi-mi:“MI:0914”(association)	0.640
CCNDBP1	SYF2	psi-mi:“MI:0915”(physical association)	0.560
MLH1	SYF2	psi-mi:“MI:0915”(physical association)	0.560
ARMC7	SYF2	psi-mi:“MI:0915”(physical association)	0.560
SYF2	MLH1	psi-mi:“MI:0915”(physical association)	0.560
SYF2	ARMC7	psi-mi:“MI:0915”(physical association)	0.560
DVL3	DVL2	psi-mi:“MI:0914”(association)	0.530
SNRPE	PRMT5	psi-mi:“MI:0914”(association)	0.530
SNRPN	PRMT5	psi-mi:“MI:0914”(association)	0.530
ZC3H18	AQR	psi-mi:“MI:0914”(association)	0.530
SNRPE	SNRPGP15	psi-mi:“MI:0914”(association)	0.530
ELAVL2	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
EFTUD2	AQR	psi-mi:“MI:0914”(association)	0.530
YJU2B	RCCD1	psi-mi:“MI:0914”(association)	0.530

BioGRID (131): SYF2 (Two-hybrid), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Co-fractionation), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), SYF2 (Affinity Capture-MS), GPATCH1 (Affinity Capture-MS), PPIE (Affinity Capture-MS)

ESM2 similar proteins: A1C8E1, A3LU29, B0JZ89, B2W2Y7, O43082, O45766, O94389, O95926, P0CM66, P0CM67, P53188, Q0C7E6, Q0UVD1, Q0V389, Q1E554, Q28HN4, Q28IN9, Q28XK6, Q2HDR6, Q2TVY9, Q3B748, Q4I5Z5, Q568A0, Q59WI7, Q5B020, Q68EY7, Q6BIC4, Q6BWR0, Q6C1V5, Q6CNQ3, Q6DD17, Q6DGP2, Q6DKE6, Q6FVC7, Q6NVR5, Q6PHE8, Q752U2, Q7SDA6, Q7ZY35, Q8AVQ6

Diamond homologs: O59733, O95926, Q09385, Q28G05, Q28XK6, Q4QRB2, Q4WPM6, Q521C0, Q5BC69, Q612R3, Q6BVE0, Q6CFW4, Q6DGP2, Q6DV01, Q7RZK5, Q8AVQ6, Q9D198, Q9V5Q4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 68 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
Metabolism of non-coding RNA	5	69.0×	2e-07
mRNA Splicing	14	33.4×	3e-16
RNA Polymerase II Transcription Termination	7	33.4×	5e-08
mRNA Splicing - Minor Pathway	6	29.2×	1e-06
snRNP Assembly	6	27.6×	2e-06
Processing of Capped Intron-Containing Pre-mRNA	15	26.8×	3e-16
mRNA Splicing - Major Pathway	21	24.9×	1e-22
SARS-CoV-2 modulates host translation machinery	5	24.3×	3e-05

GO biological processes:

GO term	Partners	Fold	FDR
spliceosomal snRNP assembly	7	74.0×	5e-10
U2-type prespliceosome assembly	5	56.7×	2e-06
mRNA splicing, via spliceosome	23	38.3×	9e-29
RNA splicing	15	24.1×	5e-15
mRNA processing	6	8.6×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	14
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

581 predictions. Top by Δscore:

Variant	Effect	Δscore
1:25223427:CAATC:C	acceptor_gain	1.0000
1:25223428:AATC:A	acceptor_gain	1.0000
1:25223429:ATC:A	acceptor_gain	1.0000
1:25223430:TC:T	acceptor_gain	1.0000
1:25223431:CC:C	acceptor_gain	1.0000
1:25223431:CCT:C	acceptor_loss	1.0000
1:25223432:C:CC	acceptor_gain	1.0000
1:25223432:C:T	acceptor_gain	1.0000
1:25223433:T:A	acceptor_loss	1.0000
1:25224993:AATAC:A	donor_loss	1.0000
1:25224994:ATACT:A	donor_loss	1.0000
1:25224995:TACTT:T	donor_loss	1.0000
1:25224996:ACTTA:A	donor_loss	1.0000
1:25224997:CT:C	donor_loss	1.0000
1:25224998:T:TC	donor_loss	1.0000
1:25224999:TACTG:T	donor_loss	1.0000
1:25225000:A:AC	donor_gain	1.0000
1:25225000:ACTG:A	donor_loss	1.0000
1:25225001:C:CT	donor_gain	1.0000
1:25225001:CT:C	donor_gain	1.0000
1:25225001:CTG:C	donor_gain	1.0000
1:25225001:CTGT:C	donor_gain	1.0000
1:25225001:CTGTT:C	donor_gain	1.0000
1:25225096:CTCCA:C	acceptor_gain	1.0000
1:25225097:TCCA:T	acceptor_gain	1.0000
1:25225098:CCA:C	acceptor_gain	1.0000
1:25225098:CCAC:C	acceptor_gain	1.0000
1:25225099:CA:C	acceptor_gain	1.0000
1:25225099:CAC:C	acceptor_gain	1.0000
1:25225101:C:CC	acceptor_gain	1.0000

AlphaMissense

1603 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:25223273:G:T	A242D	0.999
1:25223279:C:T	G240E	0.999
1:25223280:C:G	G240R	0.999
1:25223280:C:T	G240R	0.999
1:25223281:T:A	R239S	0.999
1:25223281:T:G	R239S	0.999
1:25223282:C:G	R239T	0.999
1:25223284:T:A	E238D	0.999
1:25223284:T:G	E238D	0.999
1:25223288:A:G	L237S	0.999
1:25223296:T:A	K234N	0.999
1:25223296:T:G	K234N	0.999
1:25223323:G:C	F225L	0.999
1:25223323:G:T	F225L	0.999
1:25223325:A:G	F225L	0.999
1:25223333:G:T	A222D	0.999
1:25223344:G:C	F218L	0.999
1:25223344:G:T	F218L	0.999
1:25223345:A:G	F218S	0.999
1:25223346:A:G	F218L	0.999
1:25223353:A:C	N215K	0.999
1:25223353:A:T	N215K	0.999
1:25223362:A:C	N212K	0.999
1:25223362:A:T	N212K	0.999
1:25223366:A:T	I211N	0.999
1:25228122:A:C	F124L	0.999
1:25228122:A:T	F124L	0.999
1:25228124:A:G	F124L	0.999
1:25223279:C:A	G240V	0.998
1:25223282:C:A	R239I	0.998

dbSNP variants (sampled 300 via entrez): RS1000025072 (1:25226071 C>A), RS1000796105 (1:25223923 G>A), RS1000819504 (1:25224845 T>C), RS1000904486 (1:25229691 C>T), RS1000935509 (1:25231922 A>G), RS1001134201 (1:25222477 T>G), RS1001304192 (1:25231762 T>C), RS1001635000 (1:25228485 C>T), RS1001900587 (1:25230630 C>T), RS1002368954 (1:25224287 G>A), RS1002398700 (1:25224654 A>T), RS1002569688 (1:25227754 T>A,C), RS1003294376 (1:25225771 T>C,G), RS1003395280 (1:25223469 C>G,T), RS1003736591 (1:25231150 G>C)

Disease associations

OMIM: gene MIM:607090 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002828_13	Urate levels in obese individuals	3.000000e-06
GCST002935_14	Lead levels	5.000000e-06
GCST003983_26	Male-pattern baldness	5.000000e-11
GCST004602_6	Mean corpuscular volume	5.000000e-16
GCST004607_8	Plateletcrit	7.000000e-37
GCST004735_1	Epstein-Barr virus copy number in lymphoblastoid cell lines	9.000000e-06
GCST005116_2	Male-pattern baldness	5.000000e-17
GCST005116_3	Male-pattern baldness	2.000000e-19
GCST005116_32	Male-pattern baldness	1.000000e-20
GCST007954_21	Glycated hemoglobin levels	2.000000e-07

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0007985	platelet crit
EFO:0004541	HbA1c measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	increases expression	2
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
kojic acid	decreases expression	1
beta-lapachone	decreases expression	1
zinc chromate	increases abundance, increases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
epigallocatechin gallate	increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
K 7174	increases expression	1
ICG 001	increases expression	1
abrine	increases expression, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases expression, increases response to substance	1
Resveratrol	affects cotreatment, increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Doxorubicin	affects expression	1
Estradiol	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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