SALL3

Summary

SALL3 (spalt like transcription factor 3, HGNC:10527) is a protein-coding gene on chromosome 18q23, encoding Sal-like protein 3 (Q9BXA9). Probable transcription factor.

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis.

Source: NCBI Gene 27164 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 309 total — 1 pathogenic
• Transcription factor: yes — 12 downstream targets (CollecTRI)
• MANE Select transcript: NM_171999

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10527
Approved symbol	SALL3
Name	spalt like transcription factor 3
Location	18q23
Locus type	gene with protein product
Status	Approved
Aliases	ZNF796
Ensembl gene	ENSG00000256463
Ensembl biotype	protein_coding
OMIM	605079
Entrez	27164

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 5 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000536229, ENST00000537592, ENST00000572928, ENST00000573324, ENST00000575389, ENST00000925065

RefSeq mRNA: 1 — MANE Select: NM_171999 NM_171999

CCDS: CCDS12013

Canonical transcript exons

ENST00000537592 — 3 exons

Exon	Start	End
ENSE00002445760	78992074	78995462
ENSE00003730730	78996891	78998969
ENSE00003917408	78979818	78980356

Expression profiles

Bgee: expression breadth broad, 74 present calls, max score 96.50.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8855 / max 85.7189, expressed in 321 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
170882	1.2281	271
170883	0.4314	163
170884	0.1292	73
170886	0.0658	25
170885	0.0310	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	96.50	gold quality
ganglionic eminence	UBERON:0004023	89.69	gold quality
amygdala	UBERON:0001876	81.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	81.19	gold quality
temporal lobe	UBERON:0001871	81.13	gold quality
caudate nucleus	UBERON:0001873	80.76	gold quality
nucleus accumbens	UBERON:0001882	80.07	gold quality
putamen	UBERON:0001874	79.75	gold quality
hypothalamus	UBERON:0001898	77.97	gold quality
substantia nigra	UBERON:0002038	77.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.92	gold quality
corpus callosum	UBERON:0002336	76.76	gold quality
vagina	UBERON:0000996	76.51	gold quality
Ammon’s horn	UBERON:0001954	76.41	gold quality
anterior cingulate cortex	UBERON:0009835	76.00	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	74.37	gold quality
cerebral cortex	UBERON:0000956	74.17	gold quality
Brodmann (1909) area 9	UBERON:0013540	74.12	gold quality
right frontal lobe	UBERON:0002810	73.78	gold quality
primary visual cortex	UBERON:0002436	72.76	gold quality
prostate gland	UBERON:0002367	72.49	gold quality
frontal cortex	UBERON:0001870	72.42	gold quality
prefrontal cortex	UBERON:0000451	71.58	gold quality
superior frontal gyrus	UBERON:0002661	71.54	gold quality
brain	UBERON:0000955	69.67	gold quality
adult mammalian kidney	UBERON:0000082	66.08	gold quality
cortical plate	UBERON:0005343	62.76	gold quality
kidney	UBERON:0002113	61.64	gold quality
apex of heart	UBERON:0002098	61.22	gold quality
right atrium auricular region	UBERON:0006631	54.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	38.63
E-ANND-3	no	0.16

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

12 targets.

Target	Regulation
CD74
CDH1
CYC1
CYP11A1
DNMT3A	Unknown
HDAC9	Repression
OPN1LW
SALL3
SALL4
SLC25A5
SST
TH

JASPAR motifs

Motif	Name	Family
MA2537.1	SALL3	Factors with multiple dispersed zinc fingers

JASPAR matrix evidence (PMIDs): PMID:36257403

Upstream regulators (CollecTRI, top): HOXA13, HOXD13, SALL3, SALL4

miRNA regulators (miRDB)

145 targeting SALL3, 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-3163	100.00	77.23	8605
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-6748-5P	100.00	65.81	1057
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-3119	99.92	71.34	2390

Literature-anchored findings (GeneRIF, showing 7)

• This functional characterization of SALL3 sheds light on regulatory mechanisms for DNMT3A and provides new strategies to inhibit aberrant methylation in cancer. (PMID:19139273)
• Studies indicate that vertebrate sal orthologues (spalt-like/sall) have important developmental roles during neural development and organogenesis and gentic diseases. (PMID:19247946)
• sall3 shows aberrant methylation and downregulation in human hepatocellular carcinoma (PMID:22690083)
• Results found that SALL3 promoter methylation was associated with its transcriptional inhibition. Also, hypermethylation of CpG islands in the SALL3 promoter was independently associated with aggressive behavior of head and neck cancer (HNSCC) tumors, suggesting that SALL3 acts as a tumor suppressor gene and can serve as a prognostic biomarker in HNSCC. (PMID:28616099)
• SALL3 expression in human induced pluripotent stem cells (hiPSCs) correlates positively with ectoderm differentiation capacity and negatively with mesoderm/endoderm differentiation capacity. Without affecting self-renewal of hiPSCs, SALL3 knockdown inhibits ectoderm differentiation and conversely enhances mesodermal/endodermal differentiation. (PMID:31092818)
• Hypermethylation of SALL3 in promoter regions inhibits the expression of SALL3 in cervical cancer. Infection with high-risk HPV serotypes might increase the methylation of SALL3 promoter region, silence its expression,and thus promote the development of cervical cancer. (PMID:31699190)
• SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss. (PMID:38552632)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	sall3a	ENSDARG00000079613
mus_musculus	Sall3	ENSMUSG00000024565
rattus_norvegicus	Sall3	ENSRNOG00000026116

Paralogs (14): HIVEP2 (ENSG00000010818), HIVEP1 (ENSG00000095951), SALL4 (ENSG00000101115), ZNF516 (ENSG00000101493), SALL1 (ENSG00000103449), BCL11A (ENSG00000119866), ZNF831 (ENSG00000124203), RREB1 (ENSG00000124782), HIVEP3 (ENSG00000127124), BCL11B (ENSG00000127152), ZNF219 (ENSG00000165804), SALL2 (ENSG00000165821), ZNF217 (ENSG00000171940), ZNF536 (ENSG00000198597)

Protein

Protein identifiers

Sal-like protein 3 — Q9BXA9 (reviewed: Q9BXA9)

Alternative names: Zinc finger protein 796, Zinc finger protein SALL3

All UniProt accessions (3): A0A384MEH2, Q9BXA9, I3L3L8

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcription factor.

Subcellular location. Nucleus.

Tissue specificity. Widely expressed in adult with highest levels in heart. Expressed in fetal brain (in neurons of hippocampus, cortex, mediodorsal and ventrolateral thalamic nuclei, putamen, cerebellum and brainstem).

Miscellaneous. Lacks two zinc finger domains. Major isoform with isoform 2. Lacks two zinc finger domains. Major isoform with isoform 1.

Similarity. Belongs to the sal C2H2-type zinc-finger protein family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9BXA9-1	3	yes
Q9BXA9-2	1
Q9BXA9-3	2
Q9BXA9-4	4

RefSeq proteins (1): NP_741996* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051565	Sal_C2H2-zinc-finger	Family

Pfam: PF00096, PF12874

UniProt features (48 total): zinc finger region 10, compositionally biased region 9, region of interest 7, sequence conflict 7, modified residue 3, sequence variant 3, splice variant 2, turn 2, strand 2, helix 2, chain 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7Y3L	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BXA9-F1	50.22	0.02

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): 109, 919, 1177

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 168 (showing top): TTTGTAG_MIR520D, GOZGIT_ESR1_TARGETS_DN, HNF1_Q6, FOXO4_01, LHX3_01, FOXO1_01, GOBP_FOREBRAIN_DEVELOPMENT, LA_MEN1_TARGETS, ATGTTAA_MIR302C, NKX61_01, EVI1_05, IRF7_01, BRN2_01, CAATGCA_MIR33, GOBP_APPENDAGE_DEVELOPMENT

GO Biological Process (5): regulation of transcription by RNA polymerase II (GO:0006357), regulation of signal transduction (GO:0009966), olfactory bulb development (GO:0021772), cell differentiation (GO:0030154), limb morphogenesis (GO:0035108)

GO Molecular Function (4): DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA binding (GO:0003677), zinc ion binding (GO:0008270), metal ion binding (GO:0046872)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
olfactory lobe development	1
anatomical structure development	1
cellular developmental process	1
appendage morphogenesis	1
limb development	1
chromatin	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
DNA-binding transcription factor activity	1
regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
transition metal ion binding	1
cation binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1136 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SALL3	COQ2	Q96H96	901
SALL3	ABCC6	P78420	503
SALL3	CFTR	P13569	490
SALL3	TMEFF2	Q9UIK5	417
SALL3	THBS1	P07996	407
SALL3	AJAP1	Q9UKB5	404
SALL3	ABCD4	O14678	388
SALL3	TMEM119	Q4V9L6	388
SALL3	P2RY12	Q9H244	384
SALL3	FOXK1	P85037	374
SALL3	DLX1	P56177	374
SALL3	GFRA1	P56159	371
SALL3	HOXD12	P35452	370
SALL3	POU4F2	Q12837	365
SALL3	PITX1	P78337	362
SALL3	GALR1	P47211	362

IntAct

16 interactions, top by confidence:

A	B	Type	Score
RBBP4	CDK2AP1	psi-mi:“MI:0914”(association)	0.790
RBBP4	TNRC18	psi-mi:“MI:0914”(association)	0.530
IFNA4	SALL3	psi-mi:“MI:0915”(physical association)	0.370
IFNG	SALL3	psi-mi:“MI:0915”(physical association)	0.370
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
S100B	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MAGEA9	CIBAR1	psi-mi:“MI:0914”(association)	0.350
TEX19	ZNF316	psi-mi:“MI:0914”(association)	0.350
ING1	TNRC18	psi-mi:“MI:0914”(association)	0.350
SALL1	MTA2	psi-mi:“MI:0914”(association)	0.350
SALL4	MTA2	psi-mi:“MI:0914”(association)	0.350
PPIA	SMARCA2	psi-mi:“MI:0914”(association)	0.350
VRTN	CCT6B	psi-mi:“MI:0914”(association)	0.350
ING1	SIN3B	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Reconstituted Complex), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS), SALL3 (Affinity Capture-MS)

ESM2 similar proteins: A2A5E6, A5PK23, A6NKF2, A6PWV5, B0K011, E9Q6W4, O02786, O95402, P09086, P13297, P55198, Q00196, Q08DS3, Q0VDQ9, Q29013, Q2NKI2, Q2VL80, Q2VL82, Q2VL83, Q2VL85, Q2VL86, Q569K4, Q5XI28, Q62255, Q66K41, Q6AXX3, Q6PBT9, Q86V15, Q8BXJ8, Q8IVH2, Q8K4J6, Q8TAX0, Q8VD12, Q8VDL9, Q8WUU4, Q92766, Q969V6, Q96PM9, Q9BXA9, Q9BZE0

Diamond homologs: A1L2U9, A2A884, A2ANX9, A7Y7X5, B0X9H6, B0YDH7, B1WAZ8, B1WBU4, E9PW05, E9PZZ1, G5EBU4, O15391, O60315, O62836, O75362, O77459, O95863, P08048, P0CS62, P0CS63, P10925, P15822, P17010, P17012, P20662, P22227, P25490, P28166, P31509, P31629, P36197, P52739, P52746, P56270, P56670, P56671, P60319, P80944, Q00899, Q00900

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	277
Likely benign	24
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
242603	NC_000018.9:g.73376178_78077248del4701071	Pathogenic

SpliceAI

1052 predictions. Top by Δscore:

Variant	Effect	Δscore
18:78980352:GCACG:G	donor_gain	1.0000
18:78980354:ACGGT:A	donor_loss	1.0000
18:78980356:GGTG:G	donor_loss	1.0000
18:78995459:CAAGG:C	donor_loss	1.0000
18:78995462:GGTAA:G	donor_loss	1.0000
18:78995463:GTA:G	donor_loss	1.0000
18:78995464:T:G	donor_loss	1.0000
18:78980357:G:GG	donor_gain	0.9900
18:78980358:T:A	donor_loss	0.9900
18:78992072:A:AG	acceptor_gain	0.9900
18:78992073:G:GG	acceptor_gain	0.9900
18:78992073:GCC:G	acceptor_gain	0.9900
18:78996887:GCAGG:G	acceptor_loss	0.9900
18:78996888:CAG:C	acceptor_loss	0.9900
18:78996889:A:AC	acceptor_loss	0.9900
18:78996890:G:C	acceptor_loss	0.9900
18:78995463:G:GG	donor_gain	0.9800
18:78985541:G:GT	donor_gain	0.9700
18:78992069:TGCA:T	acceptor_loss	0.9700
18:78992070:GCA:G	acceptor_loss	0.9700
18:78992071:CA:C	acceptor_loss	0.9700
18:78992072:AGCC:A	acceptor_gain	0.9700
18:78992073:GCCG:G	acceptor_gain	0.9700
18:78996886:C:CA	acceptor_gain	0.9700
18:78996889:A:AG	acceptor_gain	0.9700
18:78996890:G:GG	acceptor_gain	0.9700
18:78992073:GC:G	acceptor_gain	0.9600
18:78992073:GCCGC:G	acceptor_gain	0.9600
18:78980355:CG:C	donor_gain	0.9500
18:78980356:GG:G	donor_gain	0.9500

AlphaMissense

8478 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:78992656:T:C	L222P	1.000
18:78993255:T:A	C422S	1.000
18:78993255:T:C	C422R	1.000
18:78993256:G:A	C422Y	1.000
18:78993256:G:C	C422S	1.000
18:78993256:G:T	C422F	1.000
18:78993257:C:G	C422W	1.000
18:78993264:T:A	C425S	1.000
18:78993264:T:C	C425R	1.000
18:78993265:G:A	C425Y	1.000
18:78993265:G:C	C425S	1.000
18:78993265:G:T	C425F	1.000
18:78993266:C:G	C425W	1.000
18:78993276:T:C	F429L	1.000
18:78993277:T:C	F429S	1.000
18:78993278:C:A	F429L	1.000
18:78993278:C:G	F429L	1.000
18:78993280:G:A	G430D	1.000
18:78993282:A:C	S431R	1.000
18:78993284:C:A	S431R	1.000
18:78993284:C:G	S431R	1.000
18:78993295:T:A	L435H	1.000
18:78993295:T:C	L435P	1.000
18:78993301:T:A	I437N	1.000
18:78993301:T:C	I437T	1.000
18:78993301:T:G	I437S	1.000
18:78993303:C:A	H438N	1.000
18:78993303:C:G	H438D	1.000
18:78993304:A:G	H438R	1.000
18:78993305:C:A	H438Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000181112 (18:78997651 T>C), RS1000347523 (18:78987444 C>A), RS1000553009 (18:78999225 G>A,C), RS1000619582 (18:78997841 C>T), RS1000736918 (18:78997442 C>G,T), RS1000894268 (18:78981437 C>T), RS1000904088 (18:78978939 G>A,C), RS1000926394 (18:78981763 A>G), RS1000954466 (18:78979168 A>G,T), RS1001027622 (18:78994300 C>A,G,T), RS1001126562 (18:78987887 C>A,T), RS1001250122 (18:78983193 G>T), RS1001439635 (18:78995529 C>G,T), RS1001540825 (18:78993723 T>A,G), RS1001672231 (18:78998365 T>C,G)

Disease associations

OMIM: gene MIM:605079 | disease phenotypes: MIM:608572

GenCC curated gene-disease

Mondo (1): choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (MONDO:0012064)

Orphanet (2): Microphthalmia-anophthalmia-coloboma (Orphanet:98555), Burn-McKeown syndrome (Orphanet:1200)

HPO phenotypes

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

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000217_2	Rheumatoid arthritis	6.000000e-06
GCST001521_3	Subcutaneous adipose tissue	7.000000e-06
GCST001942_18	Prostate cancer	2.000000e-09
GCST003025_19	Attention function in attention deficit hyperactive disorder	7.000000e-06
GCST003830_41	Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1)	6.000000e-07
GCST005748_9	Digit length ratio (right hand)	3.000000e-13
GCST005749_24	Digit length ratio (left hand)	4.000000e-12
GCST005749_4	Digit length ratio (left hand)	2.000000e-15
GCST005750_11	Digit length ratio	3.000000e-13
GCST009391_116	Metabolite levels	4.000000e-06
GCST009391_1459	Metabolite levels	3.000000e-07
GCST009391_1818	Metabolite levels	5.000000e-06
GCST009391_1823	Metabolite levels	3.000000e-07
GCST009391_1828	Metabolite levels	8.000000e-06
GCST009391_1848	Metabolite levels	4.000000e-06
GCST009391_1856	Metabolite levels	4.000000e-06
GCST009391_2093	Metabolite levels	6.000000e-06
GCST009391_833	Metabolite levels	2.000000e-06
GCST009391_846	Metabolite levels	6.000000e-06
GCST009391_927	Metabolite levels	6.000000e-07
GCST009391_939	Metabolite levels	1.000000e-06
GCST009399_2	Smoking initiation (ever regular vs never regular)	2.000000e-08
GCST009439_24	Age-related cognitive decline (language) (slope of z-scores)	7.000000e-07
GCST009439_8	Age-related cognitive decline (language) (slope of z-scores)	4.000000e-06

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0007636	attention function measurement
EFO:0005921	FEV change measurement
EFO:0004841	digit length ratio
EFO:0010354	diacylglycerol 36:1 measurement
EFO:0010406	triacylglycerol 48:3 measurement
EFO:0010404	triacylglycerol 48:1 measurement
EFO:0010405	triacylglycerol 48:2 measurement
EFO:0010411	triacylglycerol 50:4 measurement
EFO:0010413	triacylglycerol 52:1 measurement
EFO:0010410	triacylglycerol 50:3 measurement
EFO:0010373	phosphatidylcholine 32:1 measurement
EFO:0010399	triacylglycerol 44:1 measurement
EFO:0010400	triacylglycerol 46:0 measurement
EFO:0010401	triacylglycerol 46:1 measurement
EFO:0010402	triacylglycerol 46:2 measurement
EFO:0006527	smoking status measurement
EFO:0007710	cognitive decline measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563682	Oculootofacial Dysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects cotreatment, decreases expression, affects expression	8
trichostatin A	affects cotreatment, decreases expression	3
methylmercuric chloride	decreases expression, increases expression	2
mercuric bromide	decreases expression, affects cotreatment	2
entinostat	decreases expression, affects cotreatment	2
Vorinostat	decreases expression, affects cotreatment	2
Panobinostat	affects cotreatment, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
bisphenol F	increases methylation, affects cotreatment	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenite	affects methylation	1
tetrachlorodian	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, increases methylation, affects methylation, affects cotreatment	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Diethylhexyl Phthalate	increases expression	1
Tobacco Smoke Pollution	increases methylation	1
Tretinoin	decreases expression	1
1-Methyl-4-phenylpyridinium	decreases expression	1
Aflatoxin B1	decreases expression	1

Clinical trials (associated diseases)

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