ALG10B

Summary

ALG10B (ALG10 alpha-1,2-glucosyltransferase B, HGNC:31088) is a protein-coding gene on chromosome 12q12, encoding Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B (Q5I7T1). Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. It is a selective cancer dependency (DepMap: 18.1% of cell lines).

Enables dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity. Involved in dolichol-linked oligosaccharide biosynthetic process. Located in plasma membrane. Is active in endoplasmic reticulum membrane. Implicated in long QT syndrome 2.

Source: NCBI Gene 144245 — RefSeq curated summary.

At a glance

• Gene–disease (curated): long QT syndrome (Limited, ClinGen) — +1 more curated relationship
• GWAS associations: 19
• Clinical variants (ClinVar): 103 total
• Phenotypes (HPO): 12
• Cancer dependency (DepMap): dependent in 18.1% of screened cell lines
• MANE Select transcript: NM_001013620

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:31088
Approved symbol	ALG10B
Name	ALG10 alpha-1,2-glucosyltransferase B
Location	12q12
Locus type	gene with protein product
Status	Approved
Aliases	KCR1
Ensembl gene	ENSG00000175548
Ensembl biotype	protein_coding
OMIM	603313
Entrez	144245

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000308742, ENST00000548240, ENST00000551464, ENST00000553138

RefSeq mRNA: 2 — MANE Select: NM_001013620 NM_001013620, NM_001308340

CCDS: CCDS31772, CCDS76548

Canonical transcript exons

ENST00000308742 — 3 exons

Exon	Start	End
ENSE00001182932	38320161	38329721
ENSE00002341258	38316774	38317064
ENSE00003609723	38318261	38318458

Expression profiles

Bgee: expression breadth ubiquitous, 223 present calls, max score 83.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9509 / max 46.5043, expressed in 1607 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
125018	4.9509	1607

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	83.30	gold quality
pigmented layer of retina	UBERON:0001782	82.05	gold quality
tibia	UBERON:0000979	80.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.76	gold quality
germinal epithelium of ovary	UBERON:0001304	78.42	gold quality
adrenal tissue	UBERON:0018303	78.03	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.90	gold quality
ventricular zone	UBERON:0003053	76.84	gold quality
ganglionic eminence	UBERON:0004023	76.13	gold quality
cortical plate	UBERON:0005343	75.97	gold quality
mucosa of paranasal sinus	UBERON:0005030	75.74	gold quality
endometrium	UBERON:0001295	75.09	gold quality
oviduct epithelium	UBERON:0004804	74.87	gold quality
islet of Langerhans	UBERON:0000006	74.86	gold quality
placenta	UBERON:0001987	74.78	gold quality
bronchial epithelial cell	CL:0002328	74.68	gold quality
skin of hip	UBERON:0001554	74.39	gold quality
thymus	UBERON:0002370	74.15	gold quality
parietal pleura	UBERON:0002400	73.93	gold quality
stromal cell of endometrium	CL:0002255	73.78	gold quality
visceral pleura	UBERON:0002401	73.26	gold quality
bronchus	UBERON:0002185	73.14	gold quality
smooth muscle tissue	UBERON:0001135	72.77	gold quality
pancreas	UBERON:0001264	72.49	gold quality
body of pancreas	UBERON:0001150	72.20	gold quality
left ovary	UBERON:0002119	72.16	gold quality
tendon	UBERON:0000043	72.09	gold quality
monocyte	CL:0000576	72.07	gold quality
ovary	UBERON:0000992	72.02	gold quality
leukocyte	CL:0000738	71.96	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

255 targeting ALG10B, 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-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3613-3P	100.00	76.36	7965
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-98-3P	100.00	74.08	3907
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6873-3P	100.00	71.42	2626
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-1277-5P	100.00	73.95	5056
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 18.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Findings suggest that KCR1 genetic variations that diminish the ability of KCR1 to protect KCNH2 from inhibition by commonly used therapeutic agents constitute a risk factor for the aLQTS. (PMID:20950623)
• Elucidation of ALG10B as a Novel Long-QT Syndrome-Susceptibility Gene. (PMID:37071726)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	alg10	ENSDARG00000053917
mus_musculus	Alg10b	ENSMUSG00000075470
rattus_norvegicus	Alg10	ENSRNOG00000066498
drosophila_melanogaster	Alg10	FBGN0052076
caenorhabditis_elegans	algn-10	WBGENE00007043

Paralogs (1): ALG10 (ENSG00000139133)

Protein

Protein identifiers

Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase B — Q5I7T1 (reviewed: Q5I7T1)

Alternative names: Alpha-1,2-glucosyltransferase ALG10-A, Alpha-2-glucosyltransferase ALG10-B, Asparagine-linked glycosylation protein 10 homolog B, Potassium channel regulator 1

All UniProt accessions (3): Q5I7T1, F8VWA9, F8VXJ0

UniProt curated annotations — full annotation on UniProt →

Function. Dol-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-Dol alpha-1,2-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic side of the endoplasmic reticulum membrane and finishes in its lumen. The sequential addition of sugars to dolichol pyrophosphate produces dolichol-linked oligosaccharides containing fourteen sugars, including two GlcNAcs, nine mannoses and three glucoses. Once assembled, the oligosaccharide is transferred from the lipid to nascent proteins by oligosaccharyltransferases. In the lumen of the endoplasmic reticulum, adds the third and last glucose residue from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide intermediate Glc(2)Man(9)GlcNAc(2)-PP-Dol to produce Glc(3)Man(9)GlcNAc(2)-PP-Dol.

Subunit / interactions. Interacts with KCNH1; may regulate KCNH1, possibly by regulating its N-glycosylation. Interacts with KCNH2; may reduce KCNH2 sensitivity to classic proarrhythmic drug blockade, possibly by regulating its N-glycosylation.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in heart, placenta, liver, kidney and pancreas. Weakly expressed in lung, skeletal muscle and brain.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the ALG10 glucosyltransferase family.

RefSeq proteins (2): NP_001013642, NP_001295269 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016900	Alg10	Family

Pfam: PF04922

Catalyzed reactions (Rhea), 1 shown:

• an alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl beta-D-glucosyl phosphate = a alpha-D-Glc-(1->2)-alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-alpha-D-GlcNAc-diphospho-di-trans,poly-cis-dolichol + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:29543)

UniProt features (30 total): topological domain 13, transmembrane region 12, sequence variant 4, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5I7T1-F1	93.14	0.84

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 158 (showing top): GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, KEGG_N_GLYCAN_BIOSYNTHESIS, chr12q12, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOCC_LUMENAL_SIDE_OF_MEMBRANE, GOCC_SIDE_OF_MEMBRANE, GOCC_NUCLEAR_OUTER_MEMBRANE_ENDOPLASMIC_RETICULUM_MEMBRANE_NETWORK, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GEORGES_TARGETS_OF_MIR192_AND_MIR215, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_GLUCOSYLTRANSFERASE_ACTIVITY

GO Biological Process (3): protein N-linked glycosylation (GO:0006487), dolichol-linked oligosaccharide biosynthetic process (GO:0006488), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (4): dolichyl pyrophosphate Glc2Man9GlcNAc2 alpha-1,2-glucosyltransferase activity (GO:0106073), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), lumenal side of endoplasmic reticulum membrane (GO:0098553), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
endoplasmic reticulum membrane	1
lumenal side of membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

480 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ALG10B	KCNH2	Q12809	507
ALG10B	RNF225	M0QZC1	507
ALG10B	ALG8	Q9BVK2	505
ALG10B	ALG6	Q9Y672	479
ALG10B	MOGS	Q13724	435
ALG10B	OR4D6	Q8NGJ1	419
ALG10B	GASK1A	Q9UFP1	418
ALG10B	CALM1	P02593	407
ALG10B	ALG11	Q2TAA5	380
ALG10B	SYT10	Q6XYQ8	379
ALG10B	BTBD9	Q96Q07	375
ALG10B	CALML6	Q8TD86	374
ALG10B	CALML3	P27482	374
ALG10B	CALML4	Q96GE6	374
ALG10B	CALML5	Q9NZT1	374

IntAct

17 interactions, top by confidence:

A	B	Type	Score
ALG10B	SHISAL1	psi-mi:“MI:0915”(physical association)	0.560
CD79A	ALG10B	psi-mi:“MI:0915”(physical association)	0.560
SHISAL1	ALG10B	psi-mi:“MI:0915”(physical association)	0.560
ALG10B	ATP5F1B	psi-mi:“MI:0914”(association)	0.530
ALG10B	TRAFD1	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
CRELD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
ACKR3	PDE2A	psi-mi:“MI:0914”(association)	0.350
CCR9	ABCC4	psi-mi:“MI:0914”(association)	0.350
CXCR4	ESYT2	psi-mi:“MI:0914”(association)	0.350
HTR1E	ESYT2	psi-mi:“MI:0914”(association)	0.350
SCN3B	NBAS	psi-mi:“MI:0914”(association)	0.350
VIPR1	ATP9A	psi-mi:“MI:0914”(association)	0.350
ALG10B	CD79A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (12): ATP5B (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), TRAFD1 (Affinity Capture-MS), KCNH2 (Affinity Capture-Western), ALG10B (Positive Genetic), ALG10B (Two-hybrid), ALG10B (Two-hybrid), ATP5B (Affinity Capture-MS), ALG10B (Affinity Capture-MS), NPLOC4 (Affinity Capture-MS), ALG10B (Affinity Capture-MS), EEA1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A2XWN6, A5PJS2, A7MBC7, B8B6G5, C7T2J9, D2HBV9, F1NXU8, O70536, O75908, O77759, O88908, P0C8N6, P18405, P24008, P43428, Q0P4J9, Q28891, Q3TD49, Q49LS8, Q4V7R2, Q58DI5, Q5BJF2, Q5GH72, Q5HZE5, Q5I7T1, Q5ND56, Q5PQL3, Q5RJM1, Q60457, Q61263, Q66H88, Q68FF9, Q6J4K2, Q7F0Q2, Q7G7C7, Q7TQM4, Q7XUH5, Q8AVI9, Q8BMD6, Q8CB65

Diamond homologs: O88788, Q10254, Q3UGP8, Q59YV2, Q5B0M8, Q5BKT4, Q5I7T1, Q8L638, Q8T8L8, P50076, Q4X162, Q6CEA5, Q6CN27, Q6FL34, Q75AQ8, Q6BW42

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	79
Likely benign	8
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

540 predictions. Top by Δscore:

Variant	Effect	Δscore
12:38318257:AAAGT:A	acceptor_gain	1.0000
12:38316766:TCCGG:T	donor_loss	0.9900
12:38316767:CCGG:C	donor_loss	0.9900
12:38316768:CGGT:C	donor_loss	0.9900
12:38316770:G:GG	donor_gain	0.9900
12:38316771:TATGT:T	donor_loss	0.9900
12:38317428:T:G	donor_gain	0.9900
12:38318252:A:AG	acceptor_gain	0.9900
12:38318253:T:G	acceptor_gain	0.9900
12:38318257:A:AG	acceptor_gain	0.9900
12:38318258:A:G	acceptor_gain	0.9900
12:38318258:AAGT:A	acceptor_gain	0.9900
12:38318258:AAGTG:A	acceptor_gain	0.9900
12:38318259:A:AG	acceptor_gain	0.9900
12:38318259:AGTG:A	acceptor_gain	0.9900
12:38318260:G:GG	acceptor_gain	0.9900
12:38318260:GT:G	acceptor_gain	0.9900
12:38318260:GTGG:G	acceptor_gain	0.9900
12:38318259:AGT:A	acceptor_gain	0.9800
12:38318260:GTG:G	acceptor_gain	0.9800
12:38317039:G:GG	donor_gain	0.9500
12:38318259:AGTGG:A	acceptor_gain	0.9500
12:38318260:GTGGG:G	acceptor_gain	0.9500
12:38320159:A:G	acceptor_gain	0.9500
12:38318454:ACAAG:A	donor_loss	0.9400
12:38318457:AGGTA:A	donor_loss	0.9400
12:38318458:GGT:G	donor_loss	0.9400
12:38318459:G:C	donor_loss	0.9400
12:38318460:T:A	donor_loss	0.9400
12:38316772:ATGTG:A	donor_loss	0.9000

AlphaMissense

3116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:38320348:G:C	R186P	0.998
12:38321208:T:A	W473R	0.997
12:38321208:T:C	W473R	0.997
12:38320365:T:A	W192R	0.996
12:38320365:T:C	W192R	0.996
12:38320857:T:C	F356L	0.996
12:38320859:C:A	F356L	0.996
12:38320859:C:G	F356L	0.996
12:38317014:C:G	H41D	0.995
12:38318379:G:C	R97T	0.995
12:38317011:T:C	F40L	0.993
12:38317013:C:A	F40L	0.993
12:38317013:C:G	F40L	0.993
12:38320213:C:G	P141R	0.993
12:38320839:G:C	D350H	0.993
12:38320846:G:C	R352T	0.993
12:38320846:G:T	R352I	0.993
12:38317002:G:C	D37H	0.992
12:38317006:A:T	E38V	0.992
12:38320847:A:C	R352S	0.992
12:38320847:A:T	R352S	0.992
12:38316933:A:C	S14R	0.991
12:38316935:C:A	S14R	0.991
12:38316935:C:G	S14R	0.991
12:38318380:A:C	R97S	0.991
12:38318380:A:T	R97S	0.991
12:38320358:T:A	N189K	0.991
12:38320358:T:G	N189K	0.991
12:38320840:A:T	D350V	0.991
12:38321135:T:A	N448K	0.991

dbSNP variants (sampled 300 via entrez): RS1000173381 (12:38323071 A>G), RS1000279703 (12:38323731 C>A,T), RS1000403506 (12:38329554 T>C,G), RS1000510981 (12:38324545 G>A,C), RS1000564781 (12:38324833 T>C), RS1000859044 (12:38329822 G>A), RS1001463610 (12:38328476 C>T), RS1001800313 (12:38328304 C>T), RS1002007249 (12:38317405 A>G), RS1002075079 (12:38316222 A>C,T), RS1002467529 (12:38317531 ATTT>A), RS1003123475 (12:38315038 T>A,C), RS1003666796 (12:38314729 G>A,C), RS1003743564 (12:38326790 T>A), RS1004199355 (12:38327215 C>T)

Disease associations

OMIM: gene MIM:603313 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
long QT syndrome 2	Limited	Unknown

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
long QT syndrome	Limited	AD

Mondo (1): long QT syndrome 2 (MONDO:0013367)

Orphanet (0):

HPO phenotypes

12 total (12 of 12 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001279	Syncope
HP:0001645	Sudden cardiac death
HP:0001657	Prolonged QT interval
HP:0001663	Ventricular fibrillation
HP:0001664	Torsade de pointes
HP:0001695	Cardiac arrest
HP:0003581	Adult onset
HP:0005184	Prolonged QTc interval
HP:0011463	Childhood onset
HP:0025708	Early young adult onset
HP:0034303	Notched T wave

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000415_5	Drug-induced liver injury (flucloxacillin)	1.000000e-06
GCST003429_11	Morning vs. evening chronotype	2.000000e-08
GCST003818_5	Resting heart rate	8.000000e-10
GCST005588_3	Idiopathic dilated cardiomyopathy	6.000000e-06
GCST005788_13	Heart rate response to recovery post exercise	2.000000e-13
GCST007565_116	Morning person	7.000000e-36
GCST007565_122	Morning person	2.000000e-31
GCST007565_125	Morning person	4.000000e-28
GCST007565_143	Morning person	2.000000e-33
GCST007565_145	Morning person	5.000000e-31
GCST007565_197	Morning person	8.000000e-28
GCST007565_210	Morning person	1.000000e-40
GCST007565_211	Morning person	8.000000e-41
GCST007565_76	Morning person	2.000000e-43
GCST007565_78	Morning person	4.000000e-43
GCST007576_335	Chronotype	2.000000e-43
GCST007576_393	Chronotype	1.000000e-10
GCST010244_358	Triglyceride levels	4.000000e-08
GCST011494_59	Daytime nap	3.000000e-14

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0009094	idiopathic dilated cardiomyopathy
EFO:0009185	heart rate response to recovery post exercise
EFO:0008328	chronotype measurement
EFO:0004530	triglyceride measurement
EFO:0007828	daytime rest measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563614	Long Qt Syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, affects cotreatment, decreases expression	6
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
sulforaphane	decreases expression	1
sodium arsenite	increases abundance, increases expression, affects cotreatment	1
butyraldehyde	decreases expression	1
manganese chloride	affects cotreatment, increases abundance, 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
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Arsenic	increases expression, affects cotreatment, increases abundance	1
Calcitriol	decreases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Testosterone	affects cotreatment, decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT07277582	PHASE2/PHASE3	RECRUITING	Evaluation of Efficacy and Safety of THRV-1268 in Long QT Syndrome Type 2 (LQTS 2)
NCT07075445	Not specified	RECRUITING	Observational Study to Describe Health-Related Quality of Life and Measure Disease Burden Among Patients With Long QT Syndrome Types (LQTS) 2 and 3