TGDS

Summary

TGDS (TDP-glucose 4,6-dehydratase, HGNC:20324) is a protein-coding gene on chromosome 13q32.1, encoding UDP-D-glucose 4,6-dehydratase (O95455). UTP-glucose 4,6-dehydratase that converts UDP-glucose into UDP-4-keto-6-deoxyglucose, and which is required for glycosaminoglycan biosynthesis and skeletal development.

The protein encoded by this gene is a member of the short-chain dehydrogenases/reductases (SDR) superfamily, and is thought to contain a nicotinamide adenine dinucleotide (NAD) binding domain. This large SDR family of enzymes is involved in the metabolism of a variety of compounds, including prostaglandins, retinoids, lipids, steroid hormones, and xenobiotics. Mutations in this gene have been associated with Catel-Manzke syndrome, which is characterized by Pierre Robin sequence, and radial deviation of the index finger due to the presence of an accessory bone between the index finger and its proximal phalanx. Pierre Robin sequence is defined by an undersized jaw, backwards displacement of the tongue base that causes an obstruction of the airways, and can also be associated with a cleft palate. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23483 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Catel-Manzke syndrome (Definitive, ClinGen)
• GWAS associations: 1
• Clinical variants (ClinVar): 131 total — 4 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 65
• MANE Select transcript: NM_014305

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20324
Approved symbol	TGDS
Name	TDP-glucose 4,6-dehydratase
Location	13q32.1
Locus type	gene with protein product
Status	Approved
Aliases	TDPGD, SDR2E1
Ensembl gene	ENSG00000088451
Ensembl biotype	protein_coding
OMIM	616146
Entrez	23483

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000261296, ENST00000470480, ENST00000498294, ENST00000862790, ENST00000921421, ENST00000953436, ENST00000953437

RefSeq mRNA: 2 — MANE Select: NM_014305 NM_001304430, NM_014305

CCDS: CCDS9471

Canonical transcript exons

ENST00000261296 — 12 exons

Exon	Start	End
ENSE00000684937	94576314	94576411
ENSE00000684938	94577371	94577429
ENSE00000684939	94578005	94578170
ENSE00001341231	94574054	94574852
ENSE00001382009	94596051	94596152
ENSE00003493534	94583094	94583236
ENSE00003507805	94593841	94593907
ENSE00003579850	94592241	94592309
ENSE00003612132	94578730	94578773
ENSE00003618625	94581091	94581189
ENSE00003630271	94590853	94590943
ENSE00003661395	94579894	94579953

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 89.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.3339 / max 183.2076, expressed in 1806 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137848	12.7320	1785
137851	3.7155	1503
137850	2.3706	1277
137847	0.3181	118
137849	0.1977	70

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.63	gold quality
right lobe of liver	UBERON:0001114	89.11	gold quality
cartilage tissue	UBERON:0002418	86.86	gold quality
calcaneal tendon	UBERON:0003701	86.83	gold quality
liver	UBERON:0002107	86.07	gold quality
pericardium	UBERON:0002407	85.55	gold quality
body of pancreas	UBERON:0001150	85.48	gold quality
adrenal tissue	UBERON:0018303	84.16	gold quality
pigmented layer of retina	UBERON:0001782	84.03	gold quality
tibia	UBERON:0000979	83.86	gold quality
pancreas	UBERON:0001264	83.63	gold quality
islet of Langerhans	UBERON:0000006	83.48	gold quality
lymph node	UBERON:0000029	83.43	gold quality
right uterine tube	UBERON:0001302	83.43	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.35	gold quality
rectum	UBERON:0001052	83.20	gold quality
germinal epithelium of ovary	UBERON:0001304	83.16	gold quality
peritoneum	UBERON:0002358	83.11	gold quality
omental fat pad	UBERON:0010414	83.10	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.00	gold quality
superficial temporal artery	UBERON:0001614	82.81	gold quality
left adrenal gland	UBERON:0001234	82.70	gold quality
left ovary	UBERON:0002119	82.68	gold quality
right adrenal gland	UBERON:0001233	82.58	gold quality
ovary	UBERON:0000992	82.50	gold quality
right ovary	UBERON:0002118	82.49	gold quality
left adrenal gland cortex	UBERON:0035825	82.35	gold quality
bronchial epithelial cell	CL:0002328	82.16	gold quality
right adrenal gland cortex	UBERON:0035827	82.10	gold quality
jejunal mucosa	UBERON:0000399	82.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.76
E-MTAB-6058	no	93.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting TGDS, 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-150-5P	99.99	66.69	1976
HSA-MIR-12136	99.98	72.81	5713
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-3120-3P	99.54	70.28	2669
HSA-MIR-186-3P	99.51	66.24	1685
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-3606-3P	99.11	69.84	3254

Literature-anchored findings (GeneRIF, showing 5)

• By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. (PMID:25480037)
• Our findings widen the phenotype spectrum caused by TGDS mutations and underline the phenotypic overlap with Temtamy preaxial brachydactyly syndrome. This improves our understanding of the prenatal development and the pathogenetic mechanism of Catel-Manzke syndrome. (PMID:28422407)
• TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy. (PMID:31769200)
• Catel-Manzke syndrome without Manzke dysostosis. (PMID:31833187)
• TGDS produces UDP-4-keto-6-deoxyglucose, a mimic of the reaction intermediate of the enzyme UXS1, which rescues inactive UXS1 by regenerating NAD+ within the catalytic pocket of UXS1. (PMID:40836090)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tgds	ENSMUSG00000022130
rattus_norvegicus	Tgds	ENSRNOG00000009661
drosophila_melanogaster	CG7724	FBGN0036698
caenorhabditis_elegans		WBGENE00044621

Paralogs (10): HSD3B7 (ENSG00000099377), GFUS (ENSG00000104522), GMDS (ENSG00000112699), UXS1 (ENSG00000115652), GALE (ENSG00000117308), NSDHL (ENSG00000147383), SDR42E2 (ENSG00000183921), SDR42E1 (ENSG00000184860), HSD3B1 (ENSG00000203857), HSD3B2 (ENSG00000203859)

Protein

Protein identifiers

UDP-D-glucose 4,6-dehydratase — O95455 (reviewed: O95455)

Alternative names: dTDP-D-glucose 4,6-dehydratase

All UniProt accessions (1): O95455

UniProt curated annotations — full annotation on UniProt →

Function. UTP-glucose 4,6-dehydratase that converts UDP-glucose into UDP-4-keto-6-deoxyglucose, and which is required for glycosaminoglycan biosynthesis and skeletal development. UDP-4-keto-6-deoxyglucose is a mimic of the reaction intermediate of UXS1 and acts as an enzyme-rescue metabolite to promote the completion of UXS1 catalytic cycle when NAD(+) levels are low. Under low NAD(+) conditions, UXS1 forms an inactive UDP-4-ketoxylose intermediate bound to NADH, impairing the synthesis of specific glycans that are essential for skeletal development. UDP-4-keto-6-deoxyglucose is used by the inactive NADH-bound UXS1 to produce UDP-6-deoxyglucose and NAD(+) within the catalytic pocket of UXS1, regenerating the essential cofactor NAD(+).

Subcellular location. Endoplasmic reticulum. Golgi apparatus.

Disease relevance. Catel-Manzke syndrome (CATMANS) [MIM:616145] A syndrome characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the NAD(P)-dependent epimerase/dehydratase family. dTDP-glucose dehydratase subfamily.

RefSeq proteins (2): NP_001291359, NP_055120* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005888	dTDP_Gluc_deHydtase	Family
IPR016040	NAD(P)-bd_dom	Domain
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF16363

Catalyzed reactions (Rhea), 1 shown:

• UDP-alpha-D-glucose = UDP-4-dehydro-6-deoxy-alpha-D-glucose + H2O (RHEA:21500)

UniProt features (26 total): binding site 11, sequence variant 11, active site 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95455-F1	94.42	0.92

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 (3): 143 (proton donor); 144 (proton acceptor); 166 (proton acceptor)

Ligand- & substrate-binding residues (11): 77; 98; 102; 170; 196; 28; 29; 50; 53; 55; 76

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 294 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, MORF_HDAC2, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_AMINOGLYCAN_BIOSYNTHETIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMINOGLYCAN_METABOLIC_PROCESS, MORF_RFC4, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOMF_HYDRO_LYASE_ACTIVITY, MARKEY_RB1_ACUTE_LOF_UP, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN

GO Biological Process (2): glycosaminoglycan biosynthetic process (GO:0006024), nucleotide-sugar metabolic process (GO:0009225)

GO Molecular Function (5): dTDP-glucose 4,6-dehydratase activity (GO:0008460), UDP-glucose 4,6-dehydratase activity (GO:0050377), catalytic activity (GO:0003824), protein binding (GO:0005515), lyase activity (GO:0016829)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hydro-lyase activity	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
aminoglycan biosynthetic process	1
glycosaminoglycan metabolic process	1
nucleoside phosphate metabolic process	1
carbohydrate derivative metabolic process	1
molecular_function	1
binding	1
catalytic activity	1

Protein interactions and networks

STRING

1640 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TGDS	GPR180	Q86V85	671
TGDS	UGDH	O60701	595
TGDS	GMDS	O60547	466
TGDS	GNE	Q9Y223	463
TGDS	GALK1	P51570	453
TGDS	GPI	P06744	451
TGDS	GALE	Q14376	451
TGDS	PGPEP1	Q9NXJ5	447
TGDS	UGP2	Q16851	435
TGDS	ALG11	Q2TAA5	433
TGDS	DPAGT1	Q9H3H5	418
TGDS	MPI	P34949	408
TGDS	PGM3	O95394	405
TGDS	H6PD	O95479	398
TGDS	GMPPB	Q9Y5P6	394

IntAct

9 interactions, top by confidence:

A	B	Type	Score
TGDS	HTT	psi-mi:“MI:0915”(physical association)	0.560
TGDS	GABARAP	psi-mi:“MI:0914”(association)	0.530
TGDS	NCK1	psi-mi:“MI:0915”(physical association)	0.400
TGDS	PIK3R1	psi-mi:“MI:0915”(physical association)	0.400
TGDS	GPD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (22): POTEE (Affinity Capture-MS), MTF2 (Affinity Capture-MS), GABARAP (Affinity Capture-MS), FAM115A (Affinity Capture-MS), MTF2 (Affinity Capture-MS), GABARAP (Affinity Capture-MS), POTEE (Affinity Capture-MS), LCMT1 (Affinity Capture-MS), GPD1 (Affinity Capture-MS), TGDS (Cross-Linking-MS (XL-MS)), TGDS (Affinity Capture-RNA), TGDS (Proximity Label-MS), TGDS (Proximity Label-MS), TGDS (Proximity Label-MS), TGDS (Proximity Label-MS)

ESM2 similar proteins: A6QLW2, A8Y0L5, B0M3E8, O43050, O45583, O60547, O64749, O65780, O65781, O95455, P04397, P21977, P26391, P39630, P55293, P55462, P93031, P95780, P96995, Q04973, Q06952, Q18801, Q42605, Q43070, Q55C77, Q564Q1, Q5UR12, Q652A8, Q6E7F4, Q7BJX9, Q8H0B2, Q8H0B6, Q8K0C9, Q8K3X3, Q8LDN8, Q8LNZ3, Q8VDR7, Q9C7W7, Q9LH76, Q9LPG6

Diamond homologs: A0QSK6, A0QTF8, A0R5C5, A6QLW2, A8Y0L5, B0RVL0, D4GU72, H1ZZB0, O85713, O95455, P0AC88, P0AC89, P0AC90, P0AC91, P0C7J0, P26391, P27830, P29782, P35675, P37759, P37761, P37777, P39630, P44914, P45602, P55293, P55294, P55354, P55462, P95780, P9WN64, P9WN65, P9WN66, P9WN67, Q06952, Q18801, Q54WS6, Q56598, Q56872, Q5UR12

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	5
Uncertain significance	50
Likely benign	29
Benign	23

Top pathogenic / likely-pathogenic (9)

Variant ID	HGVS	Classification
162457	NM_014305.4(TGDS):c.269A>G (p.Glu90Gly)	Pathogenic
162458	NM_014305.4(TGDS):c.294T>G (p.Phe98Leu)	Pathogenic
162460	NM_014305.4(TGDS):c.892A>G (p.Asn298Asp)	Pathogenic
4071468	NM_014305.4(TGDS):c.711TGT[1] (p.Val239del)	Pathogenic
1878395	NM_014305.4(TGDS):c.313+1G>A	Likely pathogenic
2412788	NM_014305.4(TGDS):c.457-2A>G	Likely pathogenic
2412789	NM_014305.4(TGDS):c.305C>T (p.Thr102Ile)	Likely pathogenic
3234836	NM_014305.4(TGDS):c.1014G>C (p.Trp338Cys)	Likely pathogenic
4071469	NM_014305.4(TGDS):c.964G>A (p.Glu322Lys)	Likely pathogenic

SpliceAI

1967 predictions. Top by Δscore:

Variant	Effect	Δscore
13:94576412:C:CC	acceptor_gain	1.0000
13:94576413:T:C	acceptor_gain	1.0000
13:94576413:T:TC	acceptor_gain	1.0000
13:94577370:CCTAT:C	donor_gain	1.0000
13:94577426:TGATC:T	acceptor_loss	1.0000
13:94577429:TC:T	acceptor_loss	1.0000
13:94577430:C:CC	acceptor_gain	1.0000
13:94578171:C:CC	acceptor_gain	1.0000
13:94579889:TTTA:T	donor_loss	1.0000
13:94579890:TTA:T	donor_loss	1.0000
13:94579891:TACC:T	donor_loss	1.0000
13:94579892:A:T	donor_loss	1.0000
13:94579952:AA:A	acceptor_gain	1.0000
13:94579954:C:CC	acceptor_gain	1.0000
13:94579955:T:C	acceptor_gain	1.0000
13:94579955:T:TC	acceptor_gain	1.0000
13:94581085:TCTTA:T	donor_loss	1.0000
13:94581086:CTTAC:C	donor_loss	1.0000
13:94581087:TTA:T	donor_loss	1.0000
13:94581088:TACC:T	donor_loss	1.0000
13:94581089:A:T	donor_loss	1.0000
13:94581090:C:CG	donor_loss	1.0000
13:94581186:ATTCC:A	acceptor_loss	1.0000
13:94581187:TTC:T	acceptor_gain	1.0000
13:94581188:TCC:T	acceptor_loss	1.0000
13:94581189:CCT:C	acceptor_loss	1.0000
13:94581190:CT:C	acceptor_loss	1.0000
13:94581191:T:A	acceptor_loss	1.0000
13:94581196:T:C	acceptor_gain	1.0000
13:94581196:T:TC	acceptor_gain	1.0000

AlphaMissense

2321 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:94596053:G:C	F28L	0.999
13:94596053:G:T	F28L	0.999
13:94596055:A:G	F28L	0.999
13:94578140:T:A	R230S	0.998
13:94578140:T:G	R230S	0.998
13:94578141:C:G	R230T	0.998
13:94579916:C:T	G198E	0.998
13:94581136:T:A	K170N	0.998
13:94581136:T:G	K170N	0.998
13:94581137:T:A	K170I	0.998
13:94583127:G:C	S141R	0.998
13:94583127:G:T	S141R	0.998
13:94583129:T:G	S141R	0.998
13:94579924:A:C	N195K	0.997
13:94579924:A:T	N195K	0.997
13:94576356:A:G	W314R	0.996
13:94576356:A:T	W314R	0.996
13:94576411:T:A	R295S	0.996
13:94576411:T:G	R295S	0.996
13:94577371:C:G	R295T	0.996
13:94578141:C:A	R230I	0.996
13:94583208:A:C	F114L	0.996
13:94583208:A:T	F114L	0.996
13:94583210:A:G	F114L	0.996
13:94574847:A:G	W330R	0.995
13:94574847:A:T	W330R	0.995
13:94578015:A:G	L272P	0.995
13:94579917:C:G	G198R	0.995
13:94579917:C:T	G198R	0.995
13:94581150:A:G	Y166H	0.995

dbSNP variants (sampled 300 via entrez): RS1000037196 (13:94594583 A>T), RS1000238024 (13:94597409 T>C), RS1000284931 (13:94597099 G>T), RS1000482525 (13:94586016 C>A), RS1000597244 (13:94592744 C>T), RS1000764907 (13:94586292 G>A,C,T), RS1001260723 (13:94595892 G>A,C), RS1001429725 (13:94585104 T>C), RS1001522625 (13:94575477 A>T), RS1001691701 (13:94597921 T>C), RS1001803446 (13:94582422 G>C), RS1002026741 (13:94594355 C>T), RS1002044070 (13:94591460 G>A), RS1002326888 (13:94590194 A>C), RS1002434606 (13:94587461 A>G)

Disease associations

OMIM: gene MIM:616146 | disease phenotypes: MIM:302380, MIM:616145

GenCC curated gene-disease

Disease	Classification	Inheritance
Catel-Manzke syndrome	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
Catel-Manzke syndrome	Definitive	AR

Mondo (1): Catel-Manzke syndrome (MONDO:0014507)

Orphanet (1): Catel-Manzke syndrome (Orphanet:1388)

HPO phenotypes

65 total (30 of 65 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000160	Narrow mouth
HP:0000162	Glossoptosis
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000201	Pierre-Robin sequence
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000272	Malar flattening
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000389	Chronic otitis media
HP:0000460	Narrow nose
HP:0000470	Short neck
HP:0000476	Cystic hygroma
HP:0000520	Proptosis
HP:0000579	Nasolacrimal duct obstruction
HP:0000582	Upslanted palpebral fissure
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000954	Single transverse palmar crease
HP:0001181	Adducted thumb
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001373	Joint dislocation

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90013406_78	Liver enzyme levels (alkaline phosphatase)	6.000000e-92

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535347	Catel Manzke syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	3
Air Pollutants	decreases expression, increases abundance, increases expression	2
Cyclosporine	increases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	increases expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Estradiol	affects cotreatment, decreases expression	1
Etoposide	affects response to substance	1
Methyl Methanesulfonate	increases expression	1
NAD	affects binding, increases activity	1
Phenobarbital	affects expression	1
Potassium Chloride	decreases expression, decreases response to substance	1
Progesterone	affects cotreatment, decreases expression	1
Dronabinol	decreases expression, decreases response to substance	1
Tobacco Smoke Pollution	increases expression	1
Tunicamycin	increases expression	1
Vincristine	increases expression	1

Clinical trials (associated diseases)

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