CASD1

Summary

CASD1 (CAS1 domain sialic acid O acetyltransferase 1, HGNC:16014) is a protein-coding gene on chromosome 7q21.3, encoding N-acetylneuraminate (7)9-O-acetyltransferase (Q96PB1). Key enzyme in the biosynthesis of O-acetylated (O-Ac) sialoglycans such as gangliosides O-AcGD3 and O-AcGD2, which affect various processes such as cell-cell interactions, host-pathogen recognition.

Enables N-acetylneuraminate 9-O-acetyltransferase activity. Involved in carbohydrate metabolic process. Located in Golgi membrane.

Source: NCBI Gene 64921 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 794 total — 120 pathogenic, 25 likely-pathogenic
• MANE Select transcript: NM_022900

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16014
Approved symbol	CASD1
Name	CAS1 domain sialic acid O acetyltransferase 1
Location	7q21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21213, FLJ21879, C7orf12, Cas1
Ensembl gene	ENSG00000127995
Ensembl biotype	protein_coding
OMIM	611686
Entrez	64921

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 9 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000297273, ENST00000417387, ENST00000443644, ENST00000447923, ENST00000471944, ENST00000489196, ENST00000851488, ENST00000851489, ENST00000919854, ENST00000919855, ENST00000919856, ENST00000964615, ENST00000964616

RefSeq mRNA: 4 — MANE Select: NM_022900 NM_001363426, NM_001363427, NM_001363428, NM_022900

CCDS: CCDS5636

Canonical transcript exons

ENST00000297273 — 18 exons

Exon	Start	End
ENSE00001608383	94555492	94557019
ENSE00001636703	94537472	94537894
ENSE00001638474	94545545	94545701
ENSE00001644773	94547096	94547175
ENSE00001722588	94538967	94539056
ENSE00001728685	94544411	94544530
ENSE00001733622	94549533	94549634
ENSE00001763380	94552350	94552427
ENSE00001780165	94535309	94535523
ENSE00001782580	94551338	94551478
ENSE00001791769	94518203	94518323
ENSE00001811529	94509809	94510217
ENSE00003463962	94517560	94517656
ENSE00003490203	94533205	94533249
ENSE00003500738	94554483	94554575
ENSE00003568958	94528188	94528250
ENSE00003574281	94533679	94533802
ENSE00003657498	94527162	94527206

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 95.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.1488 / max 91.2064, expressed in 1675 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79695	5.7310	1579
79696	2.1435	847
79694	0.1655	58
79693	0.1088	36

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	95.66	gold quality
postcentral gyrus	UBERON:0002581	92.68	gold quality
Ammon’s horn	UBERON:0001954	92.54	gold quality
mucosa of sigmoid colon	UBERON:0004993	92.33	gold quality
hypothalamus	UBERON:0001898	92.31	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.84	gold quality
colonic mucosa	UBERON:0000317	91.78	gold quality
nucleus accumbens	UBERON:0001882	91.71	gold quality
anterior cingulate cortex	UBERON:0009835	91.69	gold quality
cingulate cortex	UBERON:0003027	91.63	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.58	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.50	gold quality
rectum	UBERON:0001052	91.46	gold quality
parietal lobe	UBERON:0001872	91.37	gold quality
prefrontal cortex	UBERON:0000451	90.96	gold quality
amygdala	UBERON:0001876	90.91	gold quality
ganglionic eminence	UBERON:0004023	90.87	gold quality
caudate nucleus	UBERON:0001873	90.82	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.69	gold quality
adenohypophysis	UBERON:0002196	90.65	gold quality
corpus callosum	UBERON:0002336	90.57	gold quality
superior frontal gyrus	UBERON:0002661	90.52	gold quality
forebrain	UBERON:0001890	90.48	gold quality
cerebral cortex	UBERON:0000956	90.40	gold quality
telencephalon	UBERON:0001893	90.40	gold quality
pituitary gland	UBERON:0000007	90.22	gold quality
brain	UBERON:0000955	90.16	gold quality
choroid plexus epithelium	UBERON:0003911	89.98	gold quality
cerebellar vermis	UBERON:0004720	89.98	gold quality
spinal cord	UBERON:0002240	89.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

132 targeting CASD1, 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-5692A	100.00	74.40	6850
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-8485	100.00	77.57	4731
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-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-92A-3P	99.98	75.21	1960

Literature-anchored findings (GeneRIF, showing 2)

• human Cas1 protein is directly involved in O-acetylation of alpha2-8-linked sialic acids (PMID:20947662)
• CASD1 is a sialate O-acetyltransferase and serves as key enzyme in the biosynthesis of 9-O-acetylated sialoglycans. (PMID:26169044)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	casd1	ENSDARG00000023900
mus_musculus	Casd1	ENSMUSG00000015189
rattus_norvegicus	Casd1	ENSRNOG00000047453
drosophila_melanogaster	CG2938	FBGN0029685

Protein

Protein identifiers

N-acetylneuraminate (7)9-O-acetyltransferase — Q96PB1 (reviewed: Q96PB1)

Alternative names: CAS1 domain-containing protein 1, CAS1 protein, Sialate O-acetyltransferase

All UniProt accessions (3): Q96PB1, C9JDR3, F8WDQ7

UniProt curated annotations — full annotation on UniProt →

Function. Key enzyme in the biosynthesis of O-acetylated (O-Ac) sialoglycans such as gangliosides O-AcGD3 and O-AcGD2, which affect various processes such as cell-cell interactions, host-pathogen recognition. Catalyzes the transfer of an acetyl group from a donor, the acetyl-coenzyme-A molecule (acetyl-CoA), to the C7/8/9 OH-position of a sialic acid residue. The primary site of O-acetyl group transfer on sialic acid seems to depend on cell type and can be C7, from which the O-acetyl group could subsequently migrate to the C8 and then to the C9 position, or at C9 with possibility of migrating to the C8 and then to the C7 position. Together with ST8SIA1 (GD3 synthase) it increases the levels of ganglioside Ac-O-7-GD3. Can transfer the acetyl group from acetyl-CoA to free sialate (N-acetylneuraminate, Neu5Ac) in vitro, but has preferred substrate specificity for CMP-activated sialate (CMP-Neu5Ac), resulting in the formation of 9-O-acetylated CMP-Neu5Ac (CMP-Neu5,9Ac2). CMP-Neu5,9Ac2 may be used by sialyltransferases as a sialate donor for glycoconjugate acceptors such as ganglioside GD3. O-acetylation at position C9 of ganglioside GD3 can counteract the pro-apoptotic effects of the ganglioside GD3 in tumor cells.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Highly expressed in peripheral B lymphocytes.

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the PC-esterase family. CASD1 subfamily.

RefSeq proteins (4): NP_001350355, NP_001350356, NP_001350357, NP_075051* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012419	Cas1_AcylTrans_dom	Domain
IPR036915	Cyclin-like_sf	Homologous_superfamily
IPR057106	NXPE4_C	Domain

Pfam: PF07779, PF24536

Enzyme classification (BRENDA):

• EC 2.3.1.45 — N-acetylneuraminate 9-O-acetyltransferase (BRENDA: 12 organisms, 69 substrates, 28 inhibitors, 22 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
ACETYL-COA	0.0016–0.12	14
CMP-N-ACETYLNEURAMINIC ACID	0.0073–0.1285	2
CMP-5-N-ACETYL-NEURAMINATE	0.059	1
CMP-5-N-ACETYLNEURAMINIC ACID	0.0592	1
N-ACETYLNEURAMINATE	0.5	1
N-ACETYLNEURAMINIC ACID	0.1385	1
N-GLYCOLYLNEURAMINATE	0.39	1

Catalyzed reactions (Rhea), 3 shown:

• a ganglioside GD3 (d18:1(4E)) + acetyl-CoA = a ganglioside Ac-O-7-GD3(d18:1(4E)) + CoA (RHEA:79499)
• CMP-N-acetyl-beta-neuraminate + acetyl-CoA = CMP-N-acetyl-7-O-acetyl-beta-neuraminate + CoA (RHEA:79555)
• CMP-N-acetyl-beta-neuraminate + acetyl-CoA = CMP-N-acetyl-9-O-acetyl-beta-neuraminate + CoA (RHEA:81827)

UniProt features (41 total): topological domain 16, transmembrane region 15, active site 3, glycosylation site 3, chain 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PB1-F1	87.87	0.59

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): 94 (acyl-ester intermediate); 270; 273

Glycosylation sites (3): 46, 175, 187

Mutagenesis-validated functional residues (1):

Position	Phenotype
94	abolishes o-acetyltransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, KIM_GERMINAL_CENTER_T_HELPER_UP, STONER_ESOPHAGEAL_CARCINOGENESIS_UP, BLALOCK_ALZHEIMERS_DISEASE_DN, GOMF_ACETYLTRANSFERASE_ACTIVITY, GOMF_ACYLTRANSFERASE_ACTIVITY, GOMF_O_ACYLTRANSFERASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME2, KAMIKUBO_MYELOID_CEBPA_NETWORK, FARMER_BREAST_CANCER_APOCRINE_VS_BASAL, GOMF_O_ACETYLTRANSFERASE_ACTIVITY

GO Biological Process (1): carbohydrate metabolic process (GO:0005975)

GO Molecular Function (3): N-acetylneuraminate 9-O-acetyltransferase activity (GO:0047186), transferase activity (GO:0016740), acyltransferase activity (GO:0016746)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	1
O-acetyltransferase activity	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

416 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CASD1	SIAE	Q9HAT2	796
CASD1	BTNL3	Q6UXE8	600
CASD1	ST8SIA1	Q92185	597
CASD1	NEU4	Q8WWR8	568
CASD1	PPP1R9A	Q9ULJ8	539
CASD1	SGCE	O43556	519
CASD1	ST3GAL5	Q9UNP4	509
CASD1	ASB4	Q9Y574	502
CASD1	ST6GALNAC1	Q9NSC7	472
CASD1	ST6GAL1	P15907	472
CASD1	ADAM23	O75077	451
CASD1	BLCAP	P62952	446
CASD1	ANKRD34C	P0C6C1	445
CASD1	ABHD2	P08910	435
CASD1	ST6GALNAC6	Q969X2	423

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CASD1	NDUFB3	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): CASD1 (Protein-RNA), NDUFB3 (Affinity Capture-MS), COX6B1 (Affinity Capture-MS), CASD1 (Cross-Linking-MS (XL-MS)), CASD1 (Cross-Linking-MS (XL-MS)), CASD1 (Cross-Linking-MS (XL-MS)), CASD1 (Affinity Capture-RNA), CASD1 (Affinity Capture-RNA)

ESM2 similar proteins: A0AAS4, A0JP80, A4II83, A5D6W6, A7YWN2, B2MVP8, D4AD75, O04928, O42153, O42154, O49639, O64761, O70536, P0CW70, P23501, P47013, P53223, P53439, Q06676, Q0VFE3, Q1LW89, Q1LZA4, Q20696, Q20735, Q52KL1, Q568I2, Q5CZ37, Q5CZN0, Q68EV0, Q6AX73, Q6NUT2, Q7K0P4, Q7T3T4, Q7TN73, Q7TSN4, Q7TSX5, Q7Z7B1, Q810K3, Q86IX2, Q86VZ5

Diamond homologs: P0CM56, P0CM57, Q0WW17, Q1LW89, Q66GQ5, Q7TN73, Q8L7C8, Q8X226, Q96PB1, Q9FXG3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	120
Likely pathogenic	25
Uncertain significance	386
Likely benign	163
Benign	26

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1065199	NM_003919.3(SGCE):c.1011del (p.Ala336_Tyr337insTer)	Pathogenic
1070683	NM_003919.3(SGCE):c.623_650del (p.Gly208fs)	Pathogenic
1074768	NM_003919.3(SGCE):c.604dup (p.Thr202fs)	Pathogenic
1172914	NM_003919.3(SGCE):c.662G>T (p.Gly221Val)	Pathogenic
1213596	NM_003919.3(SGCE):c.850del (p.Thr284fs)	Pathogenic
1321115	NM_003919.3(SGCE):c.751G>T (p.Glu251Ter)	Pathogenic
1323588	NM_003919.3(SGCE):c.1296dup (p.Gly433fs)	Pathogenic
1325061	NM_003919.3(SGCE):c.802dup (p.Ile268fs)	Pathogenic
1329499	NM_003919.3(SGCE):c.521del (p.Met174fs)	Pathogenic
1342071	NM_003919.3(SGCE):c.391-1G>A	Pathogenic
1351337	NM_003919.3(SGCE):c.321del (p.Pro108fs)	Pathogenic
1404117	NM_003919.3(SGCE):c.153C>G (p.Tyr51Ter)	Pathogenic
1420908	NM_003919.3(SGCE):c.193_194del (p.Glu65fs)	Pathogenic
1426795	NM_003919.3(SGCE):c.463+2T>A	Pathogenic
1429282	NM_003919.3(SGCE):c.942C>G (p.Tyr314Ter)	Pathogenic
1440019	NM_003919.3(SGCE):c.580del (p.Glu194fs)	Pathogenic
1442309	NM_003919.3(SGCE):c.704_707del (p.Cys235fs)	Pathogenic
1446049	NM_003919.3(SGCE):c.895G>T (p.Gly299Ter)	Pathogenic
1449245	NM_003919.3(SGCE):c.904_908dup (p.Pro304fs)	Pathogenic
1451374	NM_003919.3(SGCE):c.903C>A (p.Tyr301Ter)	Pathogenic
1451375	NM_003919.3(SGCE):c.448_452del (p.Ile150fs)	Pathogenic
1451845	NM_003919.3(SGCE):c.813C>A (p.Cys271Ter)	Pathogenic
1452174	NM_003919.3(SGCE):c.495_498del (p.Phe165fs)	Pathogenic
1454062	NM_003919.3(SGCE):c.663-2A>T	Pathogenic
1454373	NM_003919.3(SGCE):c.571_572del (p.Trp191fs)	Pathogenic
1454493	NM_003919.3(SGCE):c.344A>G (p.Tyr115Cys)	Pathogenic
1456373	NM_003919.3(SGCE):c.191_197dup (p.Tyr66Ter)	Pathogenic
1459921	NM_003919.3(SGCE):c.658del (p.Glu220fs)	Pathogenic
1678758	NM_003919.3(SGCE):c.825+1G>A	Pathogenic
1686179	NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)	Pathogenic

SpliceAI

2528 predictions. Top by Δscore:

Variant	Effect	Δscore
7:94510218:GTGA:G	donor_loss	1.0000
7:94510219:T:A	donor_loss	1.0000
7:94518201:A:AG	acceptor_gain	1.0000
7:94518202:G:GG	acceptor_gain	1.0000
7:94527155:A:AG	acceptor_gain	1.0000
7:94527155:AT:A	acceptor_gain	1.0000
7:94527156:T:G	acceptor_gain	1.0000
7:94527156:T:TA	acceptor_gain	1.0000
7:94527160:A:AG	acceptor_gain	1.0000
7:94527161:G:GG	acceptor_gain	1.0000
7:94527161:GC:G	acceptor_gain	1.0000
7:94527204:GTG:G	donor_gain	1.0000
7:94530460:G:GT	donor_gain	1.0000
7:94530460:G:T	donor_gain	1.0000
7:94533248:CA:C	donor_gain	1.0000
7:94533250:G:GG	donor_gain	1.0000
7:94533674:TTTA:T	acceptor_loss	1.0000
7:94533677:A:AG	acceptor_gain	1.0000
7:94533677:AG:A	acceptor_loss	1.0000
7:94533677:AGT:A	acceptor_gain	1.0000
7:94533678:G:GA	acceptor_gain	1.0000
7:94533678:GT:G	acceptor_gain	1.0000
7:94533678:GTG:G	acceptor_gain	1.0000
7:94533678:GTGGT:G	acceptor_gain	1.0000
7:94533798:ACAAG:A	donor_loss	1.0000
7:94533799:CAAGG:C	donor_loss	1.0000
7:94533800:AAG:A	donor_loss	1.0000
7:94533803:GT:G	donor_loss	1.0000
7:94533804:T:G	donor_loss	1.0000
7:94535389:G:GG	donor_gain	1.0000

AlphaMissense

5279 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:94518247:G:A	G92E	1.000
7:94518262:G:C	R97P	1.000
7:94528197:T:A	W136R	1.000
7:94528197:T:C	W136R	1.000
7:94537865:G:A	G413R	1.000
7:94537865:G:C	G413R	1.000
7:94539000:T:A	W434R	1.000
7:94539000:T:C	W434R	1.000
7:94539006:G:C	G436R	1.000
7:94539006:G:T	G436C	1.000
7:94539007:G:A	G436D	1.000
7:94539007:G:T	G436V	1.000
7:94539009:T:A	W437R	1.000
7:94539009:T:C	W437R	1.000
7:94539036:C:G	H446D	1.000
7:94545562:T:A	N498K	1.000
7:94545562:T:G	N498K	1.000
7:94554537:A:C	S697R	1.000
7:94554539:T:A	S697R	1.000
7:94554539:T:G	S697R	1.000
7:94554558:G:A	G704R	1.000
7:94554558:G:C	G704R	1.000
7:94554559:G:A	G704E	1.000
7:94554559:G:T	G704V	1.000
7:94555493:T:C	L710P	1.000
7:94555495:T:C	F711L	1.000
7:94555497:T:A	F711L	1.000
7:94555497:T:G	F711L	1.000
7:94555520:T:C	L719P	1.000
7:94517616:T:A	W64R	0.999

dbSNP variants (sampled 300 via entrez): RS1000059554 (7:94573825 T>C), RS1000064824 (7:94580576 GAT>G), RS1000091567 (7:94573375 C>G), RS1000096368 (7:94557747 A>G), RS1000113706 (7:94628974 G>A), RS1000121860 (7:94622146 T>C), RS1000126882 (7:94529419 T>A), RS1000190043 (7:94607740 C>T), RS1000205985 (7:94611008 G>A), RS1000216891 (7:94512270 A>G), RS1000239910 (7:94516536 C>A), RS1000241994 (7:94580212 C>T), RS1000243326 (7:94573896 A>G), RS1000258806 (7:94555317 G>C,T), RS1000265210 (7:94614131 C>A)

Disease associations

OMIM: gene MIM:611686 | disease phenotypes: MIM:159900, MIM:166200, MIM:130000

GenCC curated gene-disease

Mondo (7): myoclonic dystonia 11 (MONDO:0008044), breast ductal adenocarcinoma (MONDO:0005590), myoclonus-dystonia syndrome (MONDO:0000903), osteogenesis imperfecta type 1 (MONDO:0008146), Ehlers-Danlos syndrome, classic type, 1 (MONDO:0019567), Ehlers-Danlos syndrome, classic type (MONDO:0007522), movement disorder (MONDO:0005395)

Orphanet (5): Myoclonus-dystonia syndrome (Orphanet:36899), Osteogenesis imperfecta type 1 (Orphanet:216796), Osteogenesis imperfecta (Orphanet:666), Classical Ehlers-Danlos syndrome (Orphanet:287), OBSOLETE: Ehlers-Danlos syndrome type 1 (Orphanet:90309)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390
D009069	Movement Disorders	C10.228.662
C536194	Ehlers-Danlos syndrome type 1 (supp.)
C536096	Myoclonic dystonia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, decreases expression, affects expression	9
trichostatin A	affects expression, decreases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
bleomycetin	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Doxorubicin	decreases expression	1
Endosulfan	decreases expression	1
Estradiol	decreases expression	1
Hydralazine	affects cotreatment, increases expression	1
Methotrexate	decreases expression	1
Quercetin	decreases expression	1
Dihydrotestosterone	increases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SG88	HAP1 CASD1 (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01662414	PHASE4	COMPLETED	Effect of Undenatured Cysteine-Rich Whey Protein Isolate (HMS 90®) in Patients With Parkinson’s Disease
NCT04871464	PHASE4	UNKNOWN	Role and Mechanism of Probiotics in Improving Motor Symptoms in Mild to Moderate Parkinson’s Disease
NCT06710574	PHASE4	RECRUITING	Multimodal Image Technologies Investigate the Role and Mechanism of Probiotics in Improving RBD with Parkinson’s Disease
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT01806805	PHASE3	COMPLETED	Efficacy Trial of Zonisamide for Myoclonus Dystonia
NCT01838278	PHASE3	UNKNOWN	Effectiveness of Vojta Therapy in Motor Development of Preterm Children
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00001929	PHASE2	COMPLETED	Treatment of Parkinson’s Disease With Eliprodil
NCT00331669	PHASE2	UNKNOWN	Efficacy and Safety of Deep Brain Stimulation (DBS) of the Pallidal (GPi) in Patients With Tardive Dystonia
NCT00406029	PHASE2	COMPLETED	Dyskinesia in Parkinson’s Disease (Study P04501)
NCT00537017	PHASE2	COMPLETED	Follow Up Safety Study of SCH 420814 in Subjects With Parkinson’s Disease (P05175)
NCT00693472	PHASE2	TERMINATED	Study of Preladenant for the Treatment of Neuroleptic Induced Akathisia (Study P05145)
NCT01385592	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491529	PHASE2	COMPLETED	Evaluation of the Efficacy and Safety of Modified Release AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT01491932	PHASE2	COMPLETED	Open-label, Long-term Safety Extension Study of AFQ056 in Parkinson’s Patients With L-dopa Induced Dyskinesias
NCT02500628	PHASE2	COMPLETED	Heart Rate Variability in Response to Metformin Challenge
NCT04536987	PHASE2	COMPLETED	Robot Therapy for Rehabilitation of Hand Movement After Stroke
NCT04912115	PHASE2	SUSPENDED	Randomized, Double-Blind, Active Placebo-Controlled Study of Ketamine to Treat Levodopa-Induced Dyskinesia
NCT05636852	PHASE2	TERMINATED	Altropane Dose for Imaging Patients With Suspected Parkinson’s Disease
NCT00001663	PHASE1	COMPLETED	Treatment of Cortical Myoclonus With Repetitive Transcranial Magnetic Stimulation
NCT02589340	PHASE1	TERMINATED	Buspirone, in Combination With Amantadine, for the Treatment of Levodopa-induced Dyskinesia
NCT03065192	PHASE1	COMPLETED	Safety and Efficacy Study of VY-AADC01 for Advanced Parkinson’s Disease
NCT07232147	PHASE1	NOT_YET_RECRUITING	Clinical Research on Stem Cell Therapy for Parkinson’s Disease
NCT05671068	Not specified	COMPLETED	EMOTION & COGNITION IN MYOCLONUS DYSTONIA (AGENT10-ECODYST)
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery
NCT03428009	Not specified	RECRUITING	Dystonia Genotype-Phenotype Correlation
NCT05429996	Not specified	UNKNOWN	Ultrastructural Collagen Markers in Ehlers Danlos Syndromes
NCT05434728	Not specified	UNKNOWN	Characterization of Bleeding Disorders in EDS
NCT00036296	PHASE1/PHASE2	COMPLETED	Effects of Talampanel on Patients With Advanced Parkinson’s Disease
NCT00037167	PHASE1/PHASE2	COMPLETED	Effects of Exercise Poles on Older Adults During Exercise Walking
NCT03295786	PHASE1/PHASE2	COMPLETED	Clinical Study to Test the Safety of CDNF by Brain Infusion in Patients With Parkinson’s Disease
NCT03775538	PHASE1/PHASE2	COMPLETED	Safety of CDNF by Brain Infusion in Patients With Parkinson’s Disease. Extension to HP-CD-CL-2002 Clinical Study