SINHCAF

Summary

SINHCAF (SIN3-HDAC complex associated factor, HGNC:30702) is a protein-coding gene on chromosome 12p11.21, encoding SIN3-HDAC complex-associated factor (Q9NP50). Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway. It is a selective cancer dependency (DepMap: 60.2% of cell lines).

Involved in negative regulation of cell migration. Part of Sin3-type complex.

Source: NCBI Gene 58516 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 27 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 60.2% of screened cell lines
• MANE Select transcript: NM_001135812

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30702
Approved symbol	SINHCAF
Name	SIN3-HDAC complex associated factor
Location	12p11.21
Locus type	gene with protein product
Status	Approved
Aliases	TERA
Ensembl gene	ENSG00000139146
Ensembl biotype	protein_coding
OMIM	615027
Entrez	58516

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000337682, ENST00000448582, ENST00000454658, ENST00000536836, ENST00000539004, ENST00000539409, ENST00000542983, ENST00000543615, ENST00000544921, ENST00000910401, ENST00000910402, ENST00000910403, ENST00000923732, ENST00000923733, ENST00000923734, ENST00000923735, ENST00000923736, ENST00000947901

RefSeq mRNA: 3 — MANE Select: NM_001135812 NM_001135811, NM_001135812, NM_021238

CCDS: CCDS8723

Canonical transcript exons

ENST00000337682 — 6 exons

Exon	Start	End
ENSE00002261396	31326024	31326150
ENSE00003485296	31287634	31287784
ENSE00003552254	31293805	31293931
ENSE00003556969	31295234	31295333
ENSE00003622876	31280584	31282871
ENSE00003661117	31298077	31298224

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 95.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 36.7723 / max 1213.5551, expressed in 1782 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130346	12.9285	1608
130345	10.8704	1506
130347	9.0426	1627
130341	2.1258	1034
130344	0.6739	347
130343	0.4772	228
130348	0.2407	112
130342	0.2354	86
130340	0.1777	60

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	95.75	gold quality
ganglionic eminence	UBERON:0004023	95.74	gold quality
endometrium	UBERON:0001295	95.46	gold quality
islet of Langerhans	UBERON:0000006	95.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	94.98	gold quality
lymph node	UBERON:0000029	93.60	gold quality
body of uterus	UBERON:0009853	93.49	gold quality
tonsil	UBERON:0002372	93.14	gold quality
rectum	UBERON:0001052	92.70	gold quality
adrenal tissue	UBERON:0018303	92.70	gold quality
vermiform appendix	UBERON:0001154	92.14	gold quality
smooth muscle tissue	UBERON:0001135	92.13	gold quality
right uterine tube	UBERON:0001302	91.97	gold quality
myometrium	UBERON:0001296	91.56	gold quality
fallopian tube	UBERON:0003889	91.54	gold quality
placenta	UBERON:0001987	91.49	gold quality
duodenum	UBERON:0002114	90.91	gold quality
pancreas	UBERON:0001264	90.71	gold quality
colonic epithelium	UBERON:0000397	90.53	gold quality
bone marrow	UBERON:0002371	90.44	gold quality
bone marrow cell	CL:0002092	90.38	gold quality
left ovary	UBERON:0002119	89.95	gold quality
ovary	UBERON:0000992	89.90	gold quality
minor salivary gland	UBERON:0001830	89.69	gold quality
leukocyte	CL:0000738	89.68	gold quality
saliva-secreting gland	UBERON:0001044	89.66	gold quality
cortex of kidney	UBERON:0001225	89.64	gold quality
monocyte	CL:0000576	89.63	gold quality
kidney	UBERON:0002113	89.54	gold quality
prostate gland	UBERON:0002367	89.01	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	45.61
E-HCAD-5	yes	23.62
E-MTAB-9388	yes	12.76
E-MTAB-6142	no	118.34
E-ENAD-17	no	112.19
E-MTAB-10596	no	70.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

176 targeting SINHCAF, 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-656-3P	100.00	72.15	2788
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-3658	99.96	73.87	4379
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6508-5P	99.92	70.67	2465

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 60.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 9)

• Family with sequence similarity 60A (FAM60A) protein is a cell cycle-fluctuating regulator of the SIN3-HDAC1 histone deacetylase complex. (PMID:22865885)
• studies reveal that loss of FAM60A or another component of the Sin3 complex, SDS3, leads to a change in cell morphology and an increase in cell migration (PMID:22984288)
• FAM60A may act as a key transcriptional factor to regulate genes that are correlated with each cell cycle of tumor cells in esophageal cancer. (PMID:28169357)
• SINHCAF specifically represses HIF-2alpha mRNA and protein expression, via its interaction with the transcription factor SP1 (specificity protein 1) and recruitment of HDAC1 to the HIF-2alpha promoter. (PMID:29784889)
• FAM60A act as a carcinogen and suggests that H. pylori-induced upregulation of FAM60A may contribute to the development of gastric cancer. (PMID:31727367)
• FAM60A promotes cisplatin resistance in lung cancer cells by activating SKP2 expression. (PMID:32796403)
• [Research Progress of FAM60A in the Regulation of Cellular Function]. (PMID:34238425)
• Restraint of FAM60A has a cancer-inhibiting role in pancreatic carcinoma via the effects on the Akt/GSK-3beta/beta-catenin signaling pathway. (PMID:35213078)
• SIN3-HDAC complex-associated factor, a chromatin remodelling gene located in the 12p amplicon, is a potential germ cell tumour-specific oncogene. (PMID:36056608)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sinhcaf	ENSDARG00000032653
mus_musculus	Sinhcaf	ENSMUSG00000039985
rattus_norvegicus	Sinhcaf	ENSRNOG00000049943
drosophila_melanogaster	CG44774	FBGN0266000

Protein

Protein identifiers

SIN3-HDAC complex-associated factor — Q9NP50 (reviewed: Q9NP50)

Alternative names: Protein FAM60A, Tera protein homolog

All UniProt accessions (4): F5GZ82, F5H6U2, Q9NP50, H0YGG0

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of the Sin3 deacetylase complex (Sin3/HDAC), this subunit is important for the repression of genes encoding components of the TGF-beta signaling pathway. Core component of a SIN3A complex (composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1) present in embryonic stem (ES) cells. Promotes the stability of SIN3A and its presence on chromatin and is essential for maintaining the potential of ES cells to proliferate rapidly, while ensuring a short G1-phase of the cell cycle, thereby preventing premature lineage priming.

Subunit / interactions. Interacts with the Sin3/HDAC corepressor complex at least composed of BRMS1, BRMS1L, ING2, SAP30, SAP30L and HDAC1. Found in a complex composed of at least SINHCAF, SIN3A, HDAC1, SAP30, RBBP4, OGT and TET1. Interacts with SIN3A and OGT.

Subcellular location. Nucleus.

Induction. Peaks during G1 and S phases of the cell cycle in U2OS cells. Up-regulated in squamous cell carcinoma (SCC), adenocarcinoma (AC), colon, ovary, rectum and stomach tumors.

Similarity. Belongs to the SINHCAF family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NP50-1	1	yes
Q9NP50-2	2

RefSeq proteins (3): NP_001129283, NP_001129284, NP_067061 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026065	FAM60A	Family

Pfam: PF15396

UniProt features (8 total): compositionally biased region 3, region of interest 2, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP50-F1	73.44	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 264 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, chr12p11, AGTCTTA_MIR499, GGGCATT_MIR365, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, KORKOLA_EMBRYONAL_CARCINOMA_UP, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_480

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell migration (GO:0030336), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of cell differentiation (GO:0045596), negative regulation of stem cell population maintenance (GO:1902455), positive regulation of stem cell population maintenance (GO:1902459), RNA processing (GO:0006396)

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

GO Cellular Component (3): nucleus (GO:0005634), Sin3-type complex (GO:0070822), nucleolus (GO:0005730)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of developmental process	2
stem cell population maintenance	2
regulation of stem cell population maintenance	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
cell differentiation	1
regulation of cell differentiation	1
negative regulation of cellular process	1
negative regulation of multicellular organismal process	1
positive regulation of developmental process	1
positive regulation of multicellular organismal process	1
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
binding	1
intracellular membrane-bounded organelle	1
histone deacetylase complex	1
nuclear chromosome	1
chromatin	1
nuclear lumen	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SINHCAF	SAP30	O75446	710
SINHCAF	SIN3A	Q96ST3	695
SINHCAF	BRMS1	Q9HCU9	692
SINHCAF	BRMS1L	Q5PSV4	655
SINHCAF	SAP30L	Q9HAJ7	655
SINHCAF	ARID4B	Q4LE39	605
SINHCAF	SAP18	O00422	567
SINHCAF	OGT	O15294	559
SINHCAF	ING1	Q9UK53	558
SINHCAF	SUDS3	Q9H7L9	530
SINHCAF	ING3	Q9NXR8	520
SINHCAF	HDAC1	Q13547	513
SINHCAF	ING2	Q9H160	511
SINHCAF	TMEM52	Q8NDY8	503
SINHCAF	MORF4L1	Q9UBU8	490

IntAct

65 interactions, top by confidence:

A	B	Type	Score
HDAC1	SINHCAF	psi-mi:“MI:0403”(colocalization)	0.870
HDAC1	SINHCAF	psi-mi:“MI:0915”(physical association)	0.870
SINHCAF	HDAC1	psi-mi:“MI:0915”(physical association)	0.870
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP7	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
SINHCAF	TNRC18	psi-mi:“MI:0914”(association)	0.640
ZFP41	SINHCAF	psi-mi:“MI:0915”(physical association)	0.560
FHL2	CNOT1	psi-mi:“MI:0914”(association)	0.530
RBBP7	EPOP	psi-mi:“MI:0914”(association)	0.530
SINHCAF		psi-mi:“MI:0915”(physical association)	0.490
EN1	NFIB	psi-mi:“MI:2364”(proximity)	0.470
SINHCAF	iglC2	psi-mi:“MI:0915”(physical association)	0.370
SINHCAF	GTPBP3	psi-mi:“MI:0915”(physical association)	0.370
NMI	SINHCAF	psi-mi:“MI:0915”(physical association)	0.370
SAP30	BRMS1	psi-mi:“MI:0914”(association)	0.350
Sin3a	BRMS1	psi-mi:“MI:0914”(association)	0.350
Max	PABPN1	psi-mi:“MI:0914”(association)	0.350
HDAC1	TRAK1	psi-mi:“MI:0914”(association)	0.350
SELENBP1	CAMKMT	psi-mi:“MI:0914”(association)	0.350
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350

BioGRID (223): FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), GTPBP3 (Two-hybrid), FAM60A (Affinity Capture-MS), CEP76 (Two-hybrid), NMI (Two-hybrid), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), FAM60A (Affinity Capture-MS), ING2 (Affinity Capture-MS)

ESM2 similar proteins: A6H6W9, A7YY62, C0HME0, G3MWR8, O14639, O43741, P01134, P01135, P51692, P97875, Q06922, Q12800, Q2KI04, Q2NL67, Q2PG42, Q3SXP7, Q3U2I3, Q5R8V2, Q5RBB8, Q5RCB7, Q5RE12, Q5SQY2, Q5XIA2, Q5ZJB7, Q5ZJV7, Q6AYJ2, Q6NXN1, Q6P6P7, Q6PAM0, Q78E65, Q7RTP6, Q7T2U9, Q7Z422, Q7Z6J6, Q7Z7L8, Q8BR65, Q8C8M1, Q8CJ19, Q8K4G5, Q8N612

Diamond homologs: Q5RCB7, Q5ZJV7, Q8C8M1, Q9NP50

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 63 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
NuRD complex assembly	6	18.8×	8e-05
HDACs deacetylate histones	7	18.7×	2e-05
Interaction of NuRD complexes with transcription factors	6	16.9×	1e-04
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	5	16.9×	3e-04
Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells)	5	16.3×	3e-04
Negative Regulation of CDH1 Gene Transcription	6	16.0×	1e-04
Potential therapeutics for SARS	6	15.2×	1e-04
Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)	5	13.1×	9e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of stem cell population maintenance	7	89.4×	1e-10
positive regulation of stem cell population maintenance	7	40.1×	5e-08
negative regulation of transforming growth factor beta receptor signaling pathway	7	20.3×	3e-06
negative regulation of cell migration	9	16.7×	3e-07
chromatin remodeling	9	10.9×	6e-06
transcription by RNA polymerase II	8	9.4×	9e-05
brain development	6	8.0×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	19
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	Pathogenic

SpliceAI

1312 predictions. Top by Δscore:

Variant	Effect	Δscore
12:31282872:C:CC	acceptor_gain	1.0000
12:31282872:CT:C	acceptor_loss	1.0000
12:31293798:AACTT:A	donor_loss	1.0000
12:31293799:ACTTA:A	donor_loss	1.0000
12:31293800:CTTAC:C	donor_loss	1.0000
12:31293801:TTA:T	donor_loss	1.0000
12:31293802:TA:T	donor_loss	1.0000
12:31293803:A:AC	donor_gain	1.0000
12:31293803:A:T	donor_loss	1.0000
12:31293804:C:CA	donor_gain	1.0000
12:31293804:CT:C	donor_gain	1.0000
12:31293804:CTA:C	donor_gain	1.0000
12:31293804:CTAT:C	donor_gain	1.0000
12:31293804:CTATG:C	donor_gain	1.0000
12:31293819:T:TA	donor_gain	1.0000
12:31293932:CTGG:C	acceptor_loss	1.0000
12:31295232:A:AC	donor_gain	1.0000
12:31295233:C:CC	donor_gain	1.0000
12:31295233:CATGA:C	donor_gain	1.0000
12:31295330:CAAT:C	acceptor_gain	1.0000
12:31295331:AATC:A	acceptor_loss	1.0000
12:31295334:C:CC	acceptor_gain	1.0000
12:31298070:ATCTT:A	donor_loss	1.0000
12:31298071:TCTTA:T	donor_loss	1.0000
12:31298072:CTTAC:C	donor_loss	1.0000
12:31298073:TTAC:T	donor_loss	1.0000
12:31298074:TACCC:T	donor_loss	1.0000
12:31298075:A:AC	donor_gain	1.0000
12:31298075:AC:A	donor_gain	1.0000
12:31298075:ACCCA:A	donor_loss	1.0000

AlphaMissense

1466 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:31282821:A:G	L186P	1.000
12:31282824:A:T	V185D	1.000
12:31282830:C:A	G183V	1.000
12:31282839:C:A	G180V	1.000
12:31282839:C:T	G180D	1.000
12:31282840:C:A	G180C	1.000
12:31282840:C:G	G180R	1.000
12:31282846:A:C	Y178D	1.000
12:31282854:C:A	G175V	1.000
12:31282854:C:T	G175E	1.000
12:31282855:C:A	G175W	1.000
12:31282855:C:G	G175R	1.000
12:31282855:C:T	G175R	1.000
12:31282856:A:C	C174W	1.000
12:31282857:C:A	C174F	1.000
12:31282857:C:G	C174S	1.000
12:31282857:C:T	C174Y	1.000
12:31282858:A:G	C174R	1.000
12:31282858:A:T	C174S	1.000
12:31282859:A:C	C173W	1.000
12:31282860:C:T	C173Y	1.000
12:31287639:C:A	W167C	1.000
12:31287639:C:G	W167C	1.000
12:31287640:C:G	W167S	1.000
12:31287641:A:G	W167R	1.000
12:31287641:A:T	W167R	1.000
12:31287655:A:G	L162S	1.000
12:31293912:C:T	G83E	1.000
12:31293917:C:A	R81S	1.000
12:31293917:C:G	R81S	1.000

dbSNP variants (sampled 300 via entrez): RS1000025004 (12:31296187 A>G), RS1000163207 (12:31310976 T>A), RS1000200274 (12:31280324 C>T), RS1000228297 (12:31302398 T>A), RS1000272261 (12:31282924 T>A,C), RS1000279393 (12:31290295 C>T), RS1000342441 (12:31295656 G>A), RS1000449269 (12:31288834 A>G), RS1000480445 (12:31314061 A>G), RS1000504784 (12:31301461 G>A), RS1000582758 (12:31306739 A>G), RS1000709369 (12:31323859 G>A), RS1000768633 (12:31312229 T>A), RS1000831259 (12:31313781 T>C,G), RS1000964444 (12:31300912 A>C)

Disease associations

OMIM: gene MIM:615027 | 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
GCST003400_14	Type 2 diabetes	8.000000e-10
GCST003400_52	Type 2 diabetes	8.000000e-13
GCST003807_8	Systolic blood pressure response to hydrochlorothiazide in hypertension	4.000000e-06
GCST004904_165	Body mass index	1.000000e-11
GCST006001_2	Hemoglobin A1c levels	8.000000e-10
GCST007847_23	Type 2 diabetes	2.000000e-17
GCST010118_129	Type 2 diabetes	4.000000e-32

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006944	systolic blood pressure change measurement
EFO:0004340	body mass index
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation, decreases methylation	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
doxifluridine	increases response to substance	1
acyline	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
torcetrapib	increases expression	1
ICG 001	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Fulvestrant	increases methylation, affects cotreatment	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Lead	affects expression	1
Piroxicam	affects cotreatment, increases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Rotenone	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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