ASB4

Summary

ASB4 (ankyrin repeat and SOCS box containing 4, HGNC:16009) is a protein-coding gene on chromosome 7q21.3, encoding Ankyrin repeat and SOCS box protein 4 (Q9Y574). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.

The protein encoded by this gene is a member of the ankyrin repeat and SOCS box-containing (ASB) family of proteins. They contain ankyrin repeat sequence and SOCS box domain. The SOCS box serves to couple suppressor of cytokine signalling (SOCS) proteins and their binding partners with the elongin B and C complex, possibly targeting them for degradation. Multiple alternatively spliced transcript variants have been described for this gene but some of the full length sequences are not known.

Source: NCBI Gene 51666 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 82 total — 6 pathogenic
• MANE Select transcript: NM_016116

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16009
Approved symbol	ASB4
Name	ankyrin repeat and SOCS box containing 4
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	ASB-4
Ensembl gene	ENSG00000005981
Ensembl biotype	protein_coding
OMIM	605761
Entrez	51666

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000257621, ENST00000325885, ENST00000428113, ENST00000896495, ENST00000965611

RefSeq mRNA: 2 — MANE Select: NM_016116 NM_016116, NM_145872

CCDS: CCDS5641, CCDS5642

Canonical transcript exons

ENST00000325885 — 5 exons

Exon	Start	End
ENSE00000706251	95495758	95496057
ENSE00000977228	95536437	95536550
ENSE00001268050	95537571	95540233
ENSE00001268089	95527813	95528303
ENSE00003844324	95485943	95486158

Expression profiles

Bgee: expression breadth ubiquitous, 168 present calls, max score 96.66.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3477 / max 129.6064, expressed in 40 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79753	0.1723	30
79749	0.0634	8
79751	0.0533	13
79752	0.0290	14
79754	0.0165	9
79750	0.0131	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.66	gold quality
right adrenal gland cortex	UBERON:0035827	94.91	gold quality
right adrenal gland	UBERON:0001233	94.32	gold quality
left adrenal gland	UBERON:0001234	93.94	gold quality
left adrenal gland cortex	UBERON:0035825	93.69	gold quality
adrenal cortex	UBERON:0001235	93.66	gold quality
adrenal gland	UBERON:0002369	92.38	gold quality
biceps brachii	UBERON:0001507	90.38	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	90.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.95	gold quality
hindlimb stylopod muscle	UBERON:0004252	88.26	gold quality
vastus lateralis	UBERON:0001379	83.56	gold quality
gastrocnemius	UBERON:0001388	82.80	gold quality
muscle of leg	UBERON:0001383	82.38	gold quality
muscle organ	UBERON:0001630	82.33	gold quality
skeletal muscle tissue	UBERON:0001134	81.96	gold quality
quadriceps femoris	UBERON:0001377	81.62	gold quality
endothelial cell	CL:0000115	80.02	gold quality
pituitary gland	UBERON:0000007	77.65	gold quality
muscle tissue	UBERON:0002385	77.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.32	gold quality
buccal mucosa cell	CL:0002336	77.25	gold quality
deltoid	UBERON:0001476	77.12	silver quality
islet of Langerhans	UBERON:0000006	75.10	gold quality
hair follicle	UBERON:0002073	72.41	gold quality
adenohypophysis	UBERON:0002196	72.30	gold quality
diaphragm	UBERON:0001103	72.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	69.95	gold quality
tibialis anterior	UBERON:0001385	68.91	silver quality
apex of heart	UBERON:0002098	68.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.36
E-ENAD-27	yes	3.85
E-MTAB-7303	no	158.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting ASB4, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-6499-3P	99.90	66.38	1212
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4503	99.85	71.45	1869
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-576-5P	99.84	70.46	2582
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Literature-anchored findings (GeneRIF, showing 3)

• Based on its differential expression, neuroanatomical distribution and colocalisation, we hypothesise that rat Asb-4 is a gene involved in energy homeostasis. (PMID:15929745)
• This analysis identified an antigen, ASB4, which was processed and presented by a cancer stem cell (CSC) subset but not by non-CSCs. The ASB4 gene was expressed in CSCs of colorectal cancer, but not in cells that had differentiated into non-CSCs.ASB4 is a tumor-associated antigen that can elicit CTL responses specific to CSCs and can discriminate between two cellular subsets of colorectal cancer. (PMID:29371260)
• The Roles of Obesity and ASB4 in Preeclampsia Pathogenesis. (PMID:39201703)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	asb4	ENSDARG00000034988
mus_musculus	Asb4	ENSMUSG00000042607
rattus_norvegicus	Asb4	ENSRNOG00000009197

Paralogs (7): ASB3 (ENSG00000115239), ASB15 (ENSG00000146809), ASB10 (ENSG00000146926), ASB16 (ENSG00000161664), ASB18 (ENSG00000182177), MPHOSPH8 (ENSG00000196199), ASB14 (ENSG00000239388)

Protein

Protein identifiers

Ankyrin repeat and SOCS box protein 4 — Q9Y574 (reviewed: Q9Y574)

All UniProt accessions (1): Q9Y574

UniProt curated annotations — full annotation on UniProt →

Function. Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Promotes differentiation and maturation of the vascular lineage by an oxygen-dependent mechanism. Also acts as a negative regulator of GPS1, a component of the COP9 signalosome (CSN) multiprotein complex, thereby inhibiting the serine phosphorylation of IRS1. Regulates IRS4 levels by directing its degradation via ubiquitination and thereby decreases the downstream signal of IRS4. Plays a critical role during early vascular development and proper placentation. Mechanistically, negatively regulates the transcriptional regulator inhibitor of DNA binding 2/ID2 expression through polyubiquitination and proteasome dependent degradation.

Subunit / interactions. Interacts with HIF1AN. Component of an ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex formed of CUL2 or CUL5, Elongin BC (ELOB and ELOC), RBX1 and ASB4. Interacts with IRS4. Interacts with ID2.

Subcellular location. Cytoplasm.

Post-translational modifications. Hydroxylation at Asn-246 by HIF1AN may provide an oxygen-dependent regulation mechanism for the function of ASB4 in promoting vascular differentiation.

Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the ankyrin SOCS box (ASB) family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y574-1	1	yes
Q9Y574-2	2

RefSeq proteins (2): NP_057200, NP_665879 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001496	SOCS_box	Domain
IPR002110	Ankyrin_rpt	Repeat
IPR036036	SOCS_box-like_dom_sf	Homologous_superfamily
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF07525, PF12796

UniProt features (14 total): repeat 6, region of interest 2, chain 1, site 1, modified residue 1, splice variant 1, sequence variant 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y574-F1	92.69	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 256 (essential for interaction with hif1an)

Post-translational modifications (1): 246

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 162 (showing top): GOBP_REGULATION_OF_VASCULOGENESIS, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, TAL1ALPHAE47_01, AAAYRNCTG_UNKNOWN, MORF_RAD51L3, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, TGCTGAY_UNKNOWN, GOBP_PROTEIN_AUTOUBIQUITINATION, WTGAAAT_UNKNOWN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, TGACATY_UNKNOWN, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_VASCULOGENESIS

GO Biological Process (4): intracellular signal transduction (GO:0035556), protein autoubiquitination (GO:0051865), positive regulation of vasculogenesis (GO:2001214), protein ubiquitination (GO:0016567)

GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), ubiquitin protein ligase binding (GO:0031625), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), enzyme binding (GO:0019899)

GO Cellular Component (4): cytosol (GO:0005829), Cul2-RING ubiquitin ligase complex (GO:0031462), Cul5-RING ubiquitin ligase complex (GO:0031466), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	2
cellular anatomical structure	2
cullin-RING ubiquitin ligase complex	2
signal transduction	1
protein ubiquitination	1
vasculogenesis	1
positive regulation of cell differentiation	1
regulation of vasculogenesis	1
protein modification by small protein conjugation	1
ubiquitin-like protein transferase activity	1
ubiquitin-like protein ligase binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
protein binding	1
cytoplasm	1

Protein interactions and networks

STRING

1591 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ASB4	CISH	Q9NSE2	711
ASB4	H3BTC1	H3BTC1	600
ASB4	IRS4	O14654	600
ASB4	PPP1R9A	Q9ULJ8	599
ASB4	SGCE	O43556	570
ASB4	COPG2	Q9UBF2	563
ASB4	GRB10	Q13322	560
ASB4	GPS1	Q13098	549
ASB4	JAK3	P52333	542
ASB4	TRAPPC9	Q96Q05	507
ASB4	CASD1	Q96PB1	502
ASB4	PEG10	Q86TG7	498
ASB4	ASB6	Q9NWX5	491
ASB4	BLCAP	P62952	476
ASB4	DNAJB8	Q8NHS0	475

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ASB4	DNAJB5	psi-mi:“MI:0914”(association)	0.530
HSP90AB1	ASB4	psi-mi:“MI:0915”(physical association)	0.400
ASB4	ZNF195	psi-mi:“MI:0914”(association)	0.350
ASB4	AKAP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (49): HIF1AN (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), ASB4 (PCA), ASB4 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), HIF1AN (Affinity Capture-MS), MARCH7 (Affinity Capture-MS), IQSEC1 (Affinity Capture-MS), HAUS8 (Affinity Capture-MS), ZNF195 (Affinity Capture-MS), RICTOR (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), CUL2 (Affinity Capture-Western)

ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4

Diamond homologs: A0A0R4IQZ2, Q6ZVZ8, Q8VHA6, Q8VHS5, Q8WXI3, Q91ZT7, Q96NS5, Q9WV71, Q9Y574, Q17QS6, Q862Z2, Q8WWX0, Q9D1A4, Q9WV74, Q9Y576, O35516, Q04721, Q2T9W8, Q3KP44, Q8BLD6, Q9QW30, A6NGH8, Q04749, Q21209, Q4JHE0, Q5RFS1, Q641X1, Q86WC6, Q8UVC1, Q8WXH4, Q9CQ31, Q9D119, Q9FY48

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ASB4	“down-regulates quantity by destabilization”	ID2	polyubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	0
Uncertain significance	70
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	Pathogenic
146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	Pathogenic
153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	Pathogenic
1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	Pathogenic
2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	Pathogenic
976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	Pathogenic

SpliceAI

716 predictions. Top by Δscore:

Variant	Effect	Δscore
7:95494630:G:GG	donor_gain	1.0000
7:95527808:TATA:T	acceptor_loss	1.0000
7:95527809:A:AG	acceptor_gain	1.0000
7:95527809:ATAG:A	acceptor_gain	1.0000
7:95527809:ATAGG:A	acceptor_gain	1.0000
7:95527810:T:G	acceptor_gain	1.0000
7:95527810:TA:T	acceptor_loss	1.0000
7:95527811:A:AG	acceptor_gain	1.0000
7:95527811:AG:A	acceptor_gain	1.0000
7:95527811:AGG:A	acceptor_gain	1.0000
7:95527811:AGGG:A	acceptor_gain	1.0000
7:95527812:G:GC	acceptor_gain	1.0000
7:95527812:GG:G	acceptor_gain	1.0000
7:95527812:GGG:G	acceptor_gain	1.0000
7:95527812:GGGG:G	acceptor_gain	1.0000
7:95527812:GGGGC:G	acceptor_gain	1.0000
7:95528299:ATAAG:A	donor_loss	1.0000
7:95528300:TAAG:T	donor_loss	1.0000
7:95528301:AAGG:A	donor_loss	1.0000
7:95528302:AGGTG:A	donor_loss	1.0000
7:95528303:GGT:G	donor_loss	1.0000
7:95528304:G:GA	donor_loss	1.0000
7:95528305:T:G	donor_loss	1.0000
7:95486156:AAGGT:A	donor_loss	0.9900
7:95486159:G:GA	donor_loss	0.9900
7:95486160:T:A	donor_loss	0.9900
7:95536431:CTGCA:C	acceptor_loss	0.9900
7:95536432:TGCA:T	acceptor_loss	0.9900
7:95536434:CAG:C	acceptor_loss	0.9900
7:95536435:A:C	acceptor_loss	0.9900

AlphaMissense

2823 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:95496011:T:G	C147W	0.999
7:95536518:T:A	W354R	0.999
7:95536518:T:C	W354R	0.999
7:95495763:T:A	W65R	0.998
7:95495763:T:C	W65R	0.998
7:95495793:T:A	W75R	0.998
7:95495793:T:C	W75R	0.998
7:95495884:C:A	P105H	0.998
7:95495889:G:T	G107W	0.998
7:95495890:G:A	G107E	0.998
7:95495890:G:T	G107V	0.998
7:95496009:T:C	C147R	0.998
7:95528169:G:C	D282H	0.998
7:95528170:A:T	D282V	0.998
7:95495767:T:C	L66S	0.997
7:95495888:T:A	N106K	0.997
7:95495888:T:G	N106K	0.997
7:95495899:C:A	P110H	0.997
7:95495899:C:G	P110R	0.997
7:95495911:C:A	A114D	0.997
7:95495913:T:C	C115R	0.997
7:95495914:G:A	C115Y	0.997
7:95495915:T:G	C115W	0.997
7:95495989:G:T	G140V	0.997
7:95496010:G:A	C147Y	0.997
7:95528106:T:A	W261R	0.997
7:95528106:T:C	W261R	0.997
7:95528296:T:C	F324S	0.997
7:95486045:T:C	L25P	0.996
7:95486141:T:C	L57S	0.996

dbSNP variants (sampled 300 via entrez): RS1000040151 (7:95551692 T>C), RS1000049174 (7:95496745 G>T), RS1000050801 (7:95477174 T>A,C), RS1000056134 (7:95502267 A>G), RS1000110419 (7:95510454 A>G), RS1000115896 (7:95498131 A>G), RS1000118602 (7:95543622 T>C), RS1000223077 (7:95517134 T>C), RS1000267891 (7:95532012 T>A), RS1000293932 (7:95508605 G>A), RS1000308767 (7:95546391 A>C), RS1000375470 (7:95523354 G>A), RS1000400642 (7:95496565 G>A,T), RS1000411815 (7:95545908 C>T), RS1000416205 (7:95515140 A>G,T)

Disease associations

OMIM: gene MIM:605761 | disease phenotypes: MIM:261800, MIM:159900

GenCC curated gene-disease

Mondo (2): isolated Pierre-Robin syndrome (MONDO:0009869), myoclonic dystonia 11 (MONDO:0008044)

Orphanet (3): Lateral facial cleft (Orphanet:141269), Isolated Pierre Robin sequence (Orphanet:718), Myoclonus-dystonia syndrome (Orphanet:36899)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002783_120	Body mass index	5.000000e-08
GCST002783_145	Body mass index	2.000000e-06
GCST002783_332	Body mass index	2.000000e-06
GCST002985_7	Middle childhood and early adolescence aggressive behavior	8.000000e-06
GCST004495_142	BMI (adjusted for smoking behaviour)	8.000000e-07
GCST004495_143	BMI (adjusted for smoking behaviour)	6.000000e-07
GCST004497_71	Body mass index (joint analysis main effects and smoking interaction)	7.000000e-07
GCST004497_72	Body mass index (joint analysis main effects and smoking interaction)	2.000000e-06
GCST009391_1456	Metabolite levels	8.000000e-06
GCST009391_1861	Metabolite levels	6.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004318	smoking behavior
EFO:0010405	triacylglycerol 48:2 measurement
EFO:0010410	triacylglycerol 50:3 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D010855	Pierre Robin Syndrome	C05.500.460.606; C05.660.207.540.460.606; C07.320.440.606; C07.650.500.460.606; C16.131.621.207.540.460.606; C16.131.850.500.460.606

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
Benzo(a)pyrene	affects methylation, decreases expression	2
Valproic Acid	increases expression	2
OTX015	decreases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	decreases methylation	1
pentabromodiphenyl ether	decreases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Cadmium	decreases expression, increases abundance	1
Folic Acid	decreases expression	1
Methapyrilene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01690078	Not specified	COMPLETED	Functional Modeling of the Pediatric Airway
NCT02432638	Not specified	WITHDRAWN	Pierre Robin Sequence Outcome Assessment Multi Institutional Study
NCT03423017	Not specified	COMPLETED	Brainstem Dysfunction Involvement in the Pathogenesis of Pierre Robin Sequence
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