ATCAY

Summary

ATCAY (ATCAY kinesin light chain interacting caytaxin, HGNC:779) is a protein-coding gene on chromosome 19p13.3, encoding Caytaxin (Q86WG3). Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex.

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type.

Source: NCBI Gene 85300 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Cayman type cerebellar ataxia (Strong, GenCC)
• GWAS associations: 1
• Clinical variants (ClinVar): 222 total — 4 pathogenic
• Phenotypes (HPO): 23
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_033064

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:779
Approved symbol	ATCAY
Name	ATCAY kinesin light chain interacting caytaxin
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	BNIP-H
Ensembl gene	ENSG00000167654
Ensembl biotype	protein_coding
OMIM	608179
Entrez	85300

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 4 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000450849, ENST00000595916, ENST00000597739, ENST00000598136, ENST00000600960, ENST00000601323, ENST00000861418

RefSeq mRNA: 1 — MANE Select: NM_033064 NM_033064

CCDS: CCDS45923

Canonical transcript exons

ENST00000450849 — 13 exons

Exon	Start	End
ENSE00001697724	3924583	3928082
ENSE00002258270	3880685	3881008
ENSE00003465368	3885727	3885844
ENSE00003483750	3920766	3920798
ENSE00003521993	3909486	3909617
ENSE00003535569	3907734	3907919
ENSE00003549383	3917742	3917777
ENSE00003563857	3902487	3902545
ENSE00003574176	3908268	3908370
ENSE00003595840	3918806	3918877
ENSE00003610057	3913758	3913856
ENSE00003615110	3910803	3910889
ENSE00003689460	3905434	3905655

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 98.21.

FANTOM5 (CAGE): breadth broad, TPM avg 7.1659 / max 284.9070, expressed in 306 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173242	7.1114	305
173244	0.0545	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	98.21	gold quality
cortical plate	UBERON:0005343	97.93	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.67	gold quality
superior frontal gyrus	UBERON:0002661	97.36	gold quality
endothelial cell	CL:0000115	97.22	gold quality
entorhinal cortex	UBERON:0002728	97.12	gold quality
ganglionic eminence	UBERON:0004023	96.94	gold quality
postcentral gyrus	UBERON:0002581	96.85	gold quality
primary visual cortex	UBERON:0002436	96.62	gold quality
parietal lobe	UBERON:0001872	96.47	gold quality
Brodmann (1909) area 46	UBERON:0006483	96.38	gold quality
occipital lobe	UBERON:0002021	95.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.19	gold quality
right frontal lobe	UBERON:0002810	95.18	gold quality
frontal cortex	UBERON:0001870	95.13	gold quality
neocortex	UBERON:0001950	94.87	gold quality
cerebral cortex	UBERON:0000956	94.76	gold quality
temporal lobe	UBERON:0001871	94.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.44	gold quality
prefrontal cortex	UBERON:0000451	94.27	gold quality
anterior cingulate cortex	UBERON:0009835	94.25	gold quality
hypothalamus	UBERON:0001898	93.71	gold quality
amygdala	UBERON:0001876	92.87	gold quality
Ammon’s horn	UBERON:0001954	92.77	gold quality
forebrain	UBERON:0001890	92.61	gold quality
cerebellar vermis	UBERON:0004720	92.17	gold quality
brain	UBERON:0000955	92.12	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.94	gold quality
superior vestibular nucleus	UBERON:0007227	91.89	gold quality
nucleus accumbens	UBERON:0001882	91.58	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	27.89
E-GEOD-93593	yes	13.74
E-ANND-3	yes	3.89
E-GEOD-124858	no	12.41
E-MTAB-6678	no	3.40

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI3, NR2E1

miRNA regulators (miRDB)

112 targeting ATCAY, 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-4682	100.00	68.89	1258
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-609	99.82	64.26	505
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-646	99.68	67.84	1645

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 4)

• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• caytaxin binds to kinesin-1 and functions as an adaptor that mediates intracellular transport of specific cargos, one of which is the mitochondrion. (PMID:19861499)
• Caytaxin’s role in maintaining normal neuronal function (PMID:23226316)
• Novel homozygous variants in ATCAY, MCOLN1, and SACS in a complex movement disorder in five consanguineous Pakistani families. (PMID:29449188)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	atcayb	ENSDARG00000059781
danio_rerio	atcaya	ENSDARG00000071678
mus_musculus	Atcay	ENSMUSG00000034958
rattus_norvegicus	Atcay	ENSRNOG00000020407
drosophila_melanogaster	CG11593	FBGN0035488

Paralogs (3): PRUNE2 (ENSG00000106772), BNIP2 (ENSG00000140299), BNIPL (ENSG00000163141)

Protein

Protein identifiers

Caytaxin — Q86WG3 (reviewed: Q86WG3)

Alternative names: Ataxia cayman type protein, BNIP-2-homology

All UniProt accessions (4): Q86WG3, A0A0S2Z5T8, M0R197, M0R225

UniProt curated annotations — full annotation on UniProt →

Function. Functions in the development of neural tissues, particularly the postnatal maturation of the cerebellar cortex. May play a role in neurotransmission through regulation of glutaminase/GLS, an enzyme responsible for the production in neurons of the glutamate neurotransmitter. Alternatively, may regulate the localization of mitochondria within axons and dendrites.

Subunit / interactions. Interacts with KLC1; may link mitochondria to KLC1 and regulate mitochondria localization into neuron projections. Interacts with GLS; the interaction is direct and may control GLS localization, negatively regulating its activity. Interacts with PIN1 (via WW domain); upon NGF stimulation. The interaction with PIN1 and GLS is competitive. May interact with MAP2K2.

Subcellular location. Cell projection. Axon. Dendrite. Presynapse. Mitochondrion. Growth cone. Cytoplasm.

Post-translational modifications. Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2. May be ubiquitinated by STUB1.

Disease relevance. Cerebellar ataxia, cayman type (ATCAY) [MIM:601238] Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The CRAL-TRIO domain is known to bind small hydrophobic molecules.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86WG3-1	1	yes
Q86WG3-3	2

RefSeq proteins (1): NP_149053* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001251	CRAL-TRIO_dom	Domain
IPR022181	Bcl2-/adenovirus-E1B	Family
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily

Pfam: PF12496, PF13716

UniProt features (15 total): region of interest 4, mutagenesis site 3, compositionally biased region 2, chain 1, domain 1, sequence variant 1, sequence conflict 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86WG3-F1	70.68	0.40

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): 105–106 (cleavage; by casp3)

Mutagenesis-validated functional residues (3):

Position	Phenotype
105	alters cleavage by casp3.
115–117	reduced interaction with klc1.
118–120	completely abolishes interaction with klc1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 138 (showing top): GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_GLUTAMATE_METABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, FOXD3_01, GOBP_DICARBOXYLIC_ACID_METABOLIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_MITOCHONDRION_LOCALIZATION, GOBP_ORGANELLE_LOCALIZATION, GOBP_MITOCHONDRION_DISTRIBUTION, GOBP_REGULATION_OF_AMINO_ACID_METABOLIC_PROCESS, GOCC_NEURON_PROJECTION_TERMINUS

GO Biological Process (6): apoptotic process (GO:0006915), neuron projection development (GO:0031175), regulation of protein localization (GO:0032880), mitochondrion distribution (GO:0048311), obsolete negative regulation of glutamate metabolic process (GO:2000212), nervous system development (GO:0007399)

GO Molecular Function (2): kinesin binding (GO:0019894), protein binding (GO:0005515)

GO Cellular Component (12): cytoplasm (GO:0005737), axon (GO:0030424), dendrite (GO:0030425), growth cone (GO:0030426), mitochondrial membrane (GO:0031966), neuron projection (GO:0043005), neuron projection terminus (GO:0044306), synapse (GO:0045202), perinuclear region of cytoplasm (GO:0048471), presynapse (GO:0098793), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
neuron projection	3
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
neuron development	1
plasma membrane bounded cell projection organization	1
intracellular protein localization	1
regulation of localization	1
mitochondrion localization	1
system development	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
dendritic tree	1
site of polarized growth	1
distal axon	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1
plasma membrane bounded cell projection	1
cell junction	1
cytoplasm	1
synapse	1

Protein interactions and networks

STRING

504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATCAY	TTPA	P49638	912
ATCAY	KLC1	Q07866	742
ATCAY	FKBP1C	Q5VVH2	708
ATCAY	GDAP1	Q8TB36	624
ATCAY	STUB1	Q9UNE7	512
ATCAY	KLC2	Q9H0B6	447
ATCAY	RAB6B	Q9NRW1	444
ATCAY	C1orf94	Q6P1W5	435
ATCAY	KLC4	Q9NSK0	375
ATCAY	TOR1A	O14656	369
ATCAY	KLC3	Q6P597	368
ATCAY	CLSTN1	O94985	367
ATCAY	AKAP13	Q12802	353
ATCAY	CWF19L1	Q69YN2	321
ATCAY	ZFR2	Q9UPR6	311
ATCAY	SPANXN2	Q5MJ10	311

IntAct

14 interactions, top by confidence:

A	B	Type	Score
ATCAY	STUB1	psi-mi:“MI:0915”(physical association)	0.630
STUB1	ATCAY	psi-mi:“MI:0915”(physical association)	0.630
KLC1	ATCAY	psi-mi:“MI:0915”(physical association)	0.560
ATCAY	UBE2D2	psi-mi:“MI:0220”(ubiquitination reaction)	0.440
CDCA7	CD33	psi-mi:“MI:0914”(association)	0.350
CNTFR	CACNA2D1	psi-mi:“MI:0914”(association)	0.350
CXCR3	RIMOC1	psi-mi:“MI:0914”(association)	0.350
POPDC2	FZD6	psi-mi:“MI:0914”(association)	0.350
LPGAT1	ATCAY	psi-mi:“MI:0914”(association)	0.350
TARBP2	H1-1	psi-mi:“MI:0914”(association)	0.350
KLC1	ATCAY	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (13): ATCAY (Reconstituted Complex), STUB1 (Protein-peptide), ATCAY (Affinity Capture-Western), ATCAY (Reconstituted Complex), PIN1 (Reconstituted Complex), ATCAY (Affinity Capture-Western), GLS (Affinity Capture-Western), FATE1 (Two-hybrid), ATCAY (Two-hybrid), ATCAY (Affinity Capture-MS), STUB1 (Two-hybrid), ATCAY (Biochemical Activity), APP (Reconstituted Complex)

ESM2 similar proteins: A0JMA8, A1A535, A1A5P5, A3KMI0, A6H8H2, A8E7C5, E7F187, O15013, O54940, O88870, P41229, P41230, P43125, P70302, P84903, Q03606, Q0IHU9, Q12982, Q13586, Q1LYM3, Q1M168, Q38JA7, Q58CP9, Q5BJR4, Q5F259, Q5R4Q8, Q5R991, Q5RDF1, Q5U245, Q5VZ89, Q6DTM3, Q6H1V1, Q6P3S1, Q6ZPS6, Q6ZUJ8, Q7Z3E5, Q7Z401, Q803Q4, Q86WG3, Q86YR7

Diamond homologs: O54940, P85298, Q07960, Q0IHU9, Q12982, Q1M168, Q52KR3, Q54TH9, Q55AR6, Q5BJR4, Q5FWK3, Q5R4Q8, Q7Z465, Q86WG3, Q8BHE3, Q8WUY3, Q99JU7, Q9CXP4, Q9GKT0, Q9VTU3, A4IF90, A6NI28, A7T167, B2RQE8, B2RTY4, B2RWW0, B9VTT2, D3ZFJ3, D3ZZN9, E7EZG2, E7F3F0, F1LQX4, O14014, O43182, O54834, O94988, P34288, P35688, P42331, P55194

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
STUB1	“down-regulates quantity by destabilization”	ATCAY	polyubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	146
Likely benign	27
Benign	30

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1319958	NM_033064.5(ATCAY):c.602_608del (p.Asp201fs)	Pathogenic
1338347	NM_033064.5(ATCAY):c.903C>G (p.Ser301Arg)	Pathogenic
1338348	NM_033064.5(ATCAY):c.965+3G>T	Pathogenic
4293711	NM_033064.5(ATCAY):c.556G>T (p.Glu186Ter)	Pathogenic

SpliceAI

1887 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3885722:TTCA:T	acceptor_loss	1.0000
19:3885724:CAGGG:C	acceptor_loss	1.0000
19:3885725:A:AC	acceptor_loss	1.0000
19:3885725:A:AG	acceptor_gain	1.0000
19:3885725:AG:A	acceptor_gain	1.0000
19:3885725:AGG:A	acceptor_gain	1.0000
19:3885726:G:GG	acceptor_gain	1.0000
19:3885726:GG:G	acceptor_gain	1.0000
19:3885726:GGG:G	acceptor_gain	1.0000
19:3885726:GGGGT:G	acceptor_gain	1.0000
19:3885842:CAG:C	donor_loss	1.0000
19:3885843:AGGTA:A	donor_loss	1.0000
19:3885845:G:A	donor_loss	1.0000
19:3885846:T:G	donor_loss	1.0000
19:3902386:T:TA	acceptor_gain	1.0000
19:3902390:T:TA	acceptor_gain	1.0000
19:3905423:T:G	acceptor_gain	1.0000
19:3905429:TGCA:T	acceptor_loss	1.0000
19:3905430:GCAG:G	acceptor_loss	1.0000
19:3905431:CA:C	acceptor_loss	1.0000
19:3905432:A:AC	acceptor_loss	1.0000
19:3905432:A:AG	acceptor_gain	1.0000
19:3905433:G:GC	acceptor_gain	1.0000
19:3905433:GC:G	acceptor_gain	1.0000
19:3905433:GCT:G	acceptor_gain	1.0000
19:3905433:GCTC:G	acceptor_gain	1.0000
19:3905433:GCTCC:G	acceptor_gain	1.0000
19:3905652:G:GT	donor_gain	1.0000
19:3905652:GAAG:G	donor_gain	1.0000
19:3905653:A:T	donor_gain	1.0000

AlphaMissense

2464 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3907908:T:A	V178D	1.000
19:3907917:G:A	G181E	1.000
19:3908268:G:A	G182E	1.000
19:3908319:T:C	L199P	1.000
19:3908322:C:A	P200Q	1.000
19:3908364:T:C	L214P	1.000
19:3909526:T:C	Y230H	1.000
19:3909583:T:A	W249R	1.000
19:3909583:T:C	W249R	1.000
19:3909585:G:C	W249C	1.000
19:3909585:G:T	W249C	1.000
19:3909587:T:C	L250P	1.000
19:3909598:T:G	Y254D	1.000
19:3910805:T:C	L261S	1.000
19:3910810:A:G	K263E	1.000
19:3910811:A:C	K263T	1.000
19:3910811:A:T	K263I	1.000
19:3910812:A:C	K263N	1.000
19:3910812:A:T	K263N	1.000
19:3910817:T:A	L265Q	1.000
19:3910817:T:C	L265P	1.000
19:3910832:T:A	I270N	1.000
19:3910835:T:A	V271D	1.000
19:3913765:T:C	F292L	1.000
19:3913766:T:C	F292S	1.000
19:3913766:T:G	F292C	1.000
19:3913767:C:A	F292L	1.000
19:3913767:C:G	F292L	1.000
19:3913774:A:G	K295E	1.000
19:3913776:G:C	K295N	1.000

dbSNP variants (sampled 300 via entrez): RS1000017248 (19:3890324 G>A), RS1000150164 (19:3886161 C>A), RS1000226971 (19:3918167 G>A,T), RS1000248597 (19:3916050 C>G,T), RS1000284091 (19:3905307 T>C), RS1000332041 (19:3911057 G>T), RS1000349615 (19:3915183 A>T), RS1000384166 (19:3886406 C>T), RS1000434753 (19:3887268 G>A), RS1000436834 (19:3915464 C>T), RS1000502926 (19:3911804 A>C,G), RS1000640226 (19:3912055 A>G), RS1000674924 (19:3912198 C>A,G,T), RS1000688352 (19:3905967 T>C), RS1000706266 (19:3911911 C>A,T)

Disease associations

OMIM: gene MIM:608179 | disease phenotypes: MIM:601238

GenCC curated gene-disease

Disease	Classification	Inheritance
Cayman type cerebellar ataxia	Strong	Autosomal recessive

Mondo (1): Cayman type cerebellar ataxia (MONDO:0011025)

Orphanet (1): Cerebellar ataxia, Cayman type (Orphanet:94122)

HPO phenotypes

23 total (23 of 23 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000338	Hypomimic face
HP:0000479	Abnormal retinal morphology
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001260	Dysarthria
HP:0001263	Global developmental delay
HP:0001272	Cerebellar atrophy
HP:0001290	Generalized hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001332	Dystonia
HP:0001763	Pes planus
HP:0002066	Gait ataxia
HP:0002067	Bradykinesia
HP:0002078	Truncal ataxia
HP:0002080	Intention tremor
HP:0002136	Broad-based gait
HP:0002470	Nonprogressive cerebellar ataxia
HP:0003202	Skeletal muscle atrophy
HP:0003577	Congenital onset
HP:0003593	Infantile onset

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001166_1	Aging (time to event)	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0022597	aging

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563363	Cerebellar Ataxia, Cayman Type (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
pentanal	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
dorsomorphin	affects cotreatment, decreases expression	1
licochalcone B	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Vorinostat	decreases expression	1
Aldehydes	increases expression	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Diethylhexyl Phthalate	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, decreases expression	1
Methapyrilene	increases methylation	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford