TECRL

Summary

TECRL (trans-2,3-enoyl-CoA reductase like, HGNC:27365) is a protein-coding gene on chromosome 4q13.1, encoding Trans-2,3-enoyl-CoA reductase-like (Q5HYJ1).

The protein encoded by this gene contains a ubiquitin-like domain in the N-terminal region, three transmembrane segments and a C-terminal 3-oxo-5-alpha steroid 4-dehydrogenase domain. The protein belongs to the steroid 5-alpha reductase family. Mutations in this gene result in ventricular tachycardia, catecholaminergic polymorphic, 3.

Source: NCBI Gene 253017 — RefSeq curated summary.

At a glance

• Gene–disease (curated): catecholaminergic polymorphic ventricular tachycardia (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 15
• Clinical variants (ClinVar): 385 total — 15 pathogenic, 10 likely-pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_001010874

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27365
Approved symbol	TECRL
Name	trans-2,3-enoyl-CoA reductase like
Location	4q13.1
Locus type	gene with protein product
Status	Approved
Aliases	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL
Ensembl gene	ENSG00000205678
Ensembl biotype	protein_coding
OMIM	617242
Entrez	253017

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 16 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000381210, ENST00000507440, ENST00000509536, ENST00000511356, ENST00000511997, ENST00000513125, ENST00000896848, ENST00000896849, ENST00000896850, ENST00000896851, ENST00000896852, ENST00000896853, ENST00000941913, ENST00000941914, ENST00000941915, ENST00000941916, ENST00000941917, ENST00000941918

RefSeq mRNA: 2 — MANE Select: NM_001010874 NM_001010874, NM_001363796

CCDS: CCDS33990, CCDS87229

Canonical transcript exons

ENST00000381210 — 12 exons

Exon	Start	End
ENSE00001487804	64277702	64280199
ENSE00001487806	64281041	64281086
ENSE00001487807	64281474	64281559
ENSE00001487810	64289710	64289767
ENSE00002075367	64409118	64409450
ENSE00003549748	64375172	64375223
ENSE00003572897	64322689	64322792
ENSE00003580571	64299974	64300017
ENSE00003582182	64309826	64309931
ENSE00003591923	64305166	64305238
ENSE00003603712	64314648	64314763
ENSE00003618815	64328512	64328556

Expression profiles

Bgee: expression breadth ubiquitous, 135 present calls, max score 99.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.2391 / max 675.6523, expressed in 80 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
52268	1.3854	66
52270	0.6271	52
52269	0.1095	34
52263	0.0710	35
52272	0.0300	20
52271	0.0161	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
myocardium	UBERON:0002349	99.13	gold quality
heart right ventricle	UBERON:0002080	99.09	gold quality
left ventricle myocardium	UBERON:0006566	98.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.83	gold quality
cardiac atrium	UBERON:0002081	98.69	gold quality
right atrium auricular region	UBERON:0006631	98.65	gold quality
cardiac ventricle	UBERON:0002082	98.14	gold quality
heart left ventricle	UBERON:0002084	98.10	gold quality
apex of heart	UBERON:0002098	98.10	gold quality
vena cava	UBERON:0004087	97.02	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.07	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.32	gold quality
biceps brachii	UBERON:0001507	92.78	gold quality
heart	UBERON:0000948	92.75	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	91.13	gold quality
skeletal muscle tissue	UBERON:0001134	89.52	gold quality
gastrocnemius	UBERON:0001388	87.19	gold quality
muscle of leg	UBERON:0001383	86.36	gold quality
vastus lateralis	UBERON:0001379	86.35	gold quality
buccal mucosa cell	CL:0002336	85.74	gold quality
muscle tissue	UBERON:0002385	85.66	gold quality
quadriceps femoris	UBERON:0001377	82.88	gold quality
deltoid	UBERON:0001476	82.11	gold quality
adrenal tissue	UBERON:0018303	69.75	gold quality
tibialis anterior	UBERON:0001385	63.33	silver quality
granulocyte	CL:0000094	58.07	gold quality
jejunum	UBERON:0002115	56.54	gold quality
lower lobe of lung	UBERON:0008949	54.64	silver quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-11268	no	3385.91
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting TECRL, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-4328	99.57	71.06	4094

Literature-anchored findings (GeneRIF, showing 4)

• In summary, the authors report that mutations in TECRL are associated with inherited arrhythmias characterized by clinical features of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. (PMID:27861123)
• A compound heterozygosity in the Tecrl gene (Arg196Gln and c.918+3T > G splice site mutation) was identified in a patient with catecholaminergic polymorphic ventricular tachycardia. (PMID:30790670)
• Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms. (PMID:32173957)
• TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes. (PMID:35577932)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tecrl	ENSMUSG00000049537
rattus_norvegicus	Tecrl	ENSRNOG00000001912
drosophila_melanogaster	Sc2	FBGN0035471
caenorhabditis_elegans		WBGENE00000198

Paralogs (3): TECR (ENSG00000099797), SRD5A1 (ENSG00000145545), SRD5A2 (ENSG00000277893)

Protein

Protein identifiers

Trans-2,3-enoyl-CoA reductase-like — Q5HYJ1 (reviewed: Q5HYJ1)

Alternative names: Steroid 5-alpha-reductase 2-like 2 protein

All UniProt accessions (4): D6RBZ3, E9PD39, Q5HYJ1, H0Y9F0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane. Endoplasmic reticulum.

Tissue specificity. Predominantly expressed in the heart and skeletal muscle.

Disease relevance. Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3) [MIM:614021] An arrhythmogenic disorder characterized by stress-induced, bidirectional ventricular tachycardia that may degenerate into cardiac arrest and cause sudden death. Patients present with recurrent syncope, or sudden death after physical activity or emotional stress. CPVT3 is an autosomal recessive disorder with onset at early age and associated with sudden death in childhood. Patients manifest QT prolongation on adrenergic stimulation. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the steroid 5-alpha reductase family.

RefSeq proteins (2): NP_001010874, NP_001350725 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001104	3-oxo-5_a-steroid_4-DH_C	Domain
IPR039357	SRD5A/TECR	Family
IPR047822	TECRL_Ubl	Domain
IPR049127	TECR-like_N	Domain

Pfam: PF02544, PF21696

UniProt features (7 total): transmembrane region 3, sequence variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5HYJ1-F1	84.32	0.68

Functional residue map

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

Post-translational modifications (1): 37

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-75105	Fatty acyl-CoA biosynthesis
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 92 (showing top): REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_THE_CH_CH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, chr4q13, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_VERY_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_FATTY_ACID_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS, GOBP_MEMBRANE_LIPID_METABOLIC_PROCESS, GOBP_FATTY_ACID_METABOLIC_PROCESS

GO Biological Process (3): sphingolipid metabolic process (GO:0006665), very long-chain fatty acid biosynthetic process (GO:0042761), lipid metabolic process (GO:0006629)

GO Molecular Function (3): very-long-chain enoyl-CoA reductase activity (GO:0102758), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Fatty acyl-CoA biosynthesis	1
Metabolism	1
Fatty acid metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lipid metabolic process	1
very long-chain fatty acid metabolic process	1
fatty acid biosynthetic process	1
primary metabolic process	1
oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	1
catalytic activity	1
oxidoreductase activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

812 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TECRL	SRD5A3	Q9H8P0	920
TECRL	SRD5A1	P18405	834
TECRL	PACC1	Q9H813	720
TECRL	TRDN	Q13061	620
TECRL	CASQ2	O14958	617
TECRL	SRD5A2	P31213	587
TECRL	RYR2	Q92736	507
TECRL	PIP	P12273	477
TECRL	KCNJ2	P48049	447
TECRL	PHAX	Q9H814	421
TECRL	KIF24	Q5T7B8	419
TECRL	A0A590UK56	A0A590UK56	417
TECRL	AKNAD1	Q5T1N1	393
TECRL	MPLKIP	Q8TAP9	391
TECRL	LINGO2	Q7L985	385

IntAct

0 interactions, top by confidence:

BioGRID (2): TECRL (Biochemical Activity), TECRL (Positive Genetic)

ESM2 similar proteins: A1A4F0, A2QM49, A2ZIM4, E1BPQ3, E2R4X3, F4IXT6, N4WW42, O49567, O57428, O81514, P0C941, P18380, P38279, P50581, P52885, P56180, P68253, P86214, P86252, P86265, Q01741, Q0C8A7, Q0DWQ7, Q2QWX8, Q2RBJ4, Q2XXR3, Q3SZ89, Q4R6N0, Q5GH77, Q5HYJ1, Q5ZHX6, Q66H96, Q6UXP3, Q6YXZ1, Q7X7E9, Q7XT08, Q866X0, Q86UG4, Q86V35, Q8BFZ1

Diamond homologs: A2XWN6, A5PJS2, B8B6G5, C7T2J9, D2HBV9, I1HTF7, O18765, O94511, P18405, P24008, P31213, P31214, Q0P4J9, Q28891, Q28892, Q2QDF6, Q38944, Q3SZ89, Q55C17, Q5HYJ1, Q5K2N1, Q5RJM1, Q68FF9, Q7F0Q2, Q7XUH5, Q99N99, Q9CAH5, Q9H8P0, Q9SI62, Q9UT20, Q9WUP4, Q17428, Q3ZCD7, Q64232, Q9CY27, Q9N5Y2, Q9NZ01, Q57ZC7, Q8BFZ1, Q9M2U2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	15
Likely pathogenic	10
Uncertain significance	197
Likely benign	115
Benign	34

Top pathogenic / likely-pathogenic (25)

Variant ID	HGVS	Classification
1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	Pathogenic
1740205	NM_001010874.5(TECRL):c.438del (p.Leu148fs)	Pathogenic
1751986	NM_001010874.5(TECRL):c.616A>T (p.Lys206Ter)	Pathogenic
1755289	NM_001010874.5(TECRL):c.675G>A (p.Trp225Ter)	Pathogenic
1758560	NM_001010874.5(TECRL):c.736G>T (p.Gly246Ter)	Pathogenic
1771254	NM_001010874.5(TECRL):c.137dup (p.Arg47fs)	Pathogenic
1784734	NM_001010874.5(TECRL):c.202C>T (p.Gln68Ter)	Pathogenic
1785354	NM_001010874.5(TECRL):c.206del (p.Thr69fs)	Pathogenic
3232343	NM_001010874.5(TECRL):c.515_516del (p.Lys172fs)	Pathogenic
3255077	NM_001010874.5(TECRL):c.395_408dup (p.Leu137fs)	Pathogenic
3325216	NM_001010874.5(TECRL):c.272del (p.Lys91fs)	Pathogenic
3358902	NM_001010874.5(TECRL):c.296G>A (p.Trp99Ter)	Pathogenic
372283	NM_001010874.5(TECRL):c.331+1G>A	Pathogenic
3805415	NM_001010874.5(TECRL):c.567T>A (p.Cys189Ter)	Pathogenic
814027	NM_001010874.5(TECRL):c.918+3A>G	Pathogenic
1210126	NM_001010874.5(TECRL):c.742_758del (p.Arg248fs)	Likely pathogenic
1305763	NM_001010874.5(TECRL):c.730+1G>A	Likely pathogenic
1762090	NM_001010874.5(TECRL):c.809TGT[1] (p.Leu271del)	Likely pathogenic
2442197	NM_001010874.5(TECRL):c.271_272del (p.Lys91fs)	Likely pathogenic
3232342	NM_001010874.5(TECRL):c.436-2A>G	Likely pathogenic
3232350	NM_001010874.5(TECRL):c.833-1G>C	Likely pathogenic
3325210	NM_001010874.5(TECRL):c.435+1_435+97del	Likely pathogenic
3354650	NM_001010874.5(TECRL):c.658-2A>G	Likely pathogenic
372284	NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)	Likely pathogenic
4182156	NM_001010874.5(TECRL):c.658-2del	Likely pathogenic

SpliceAI

2300 predictions. Top by Δscore:

Variant	Effect	Δscore
4:64309932:C:CC	acceptor_gain	1.0000
4:64314646:A:AC	donor_gain	1.0000
4:64314647:C:CC	donor_gain	1.0000
4:64322683:ACTT:A	donor_loss	1.0000
4:64322685:TTACT:T	donor_loss	1.0000
4:64322686:TACTG:T	donor_loss	1.0000
4:64322687:A:AC	donor_gain	1.0000
4:64322687:AC:A	donor_loss	1.0000
4:64322688:C:CA	donor_gain	1.0000
4:64322688:C:G	donor_loss	1.0000
4:64322688:CT:C	donor_gain	1.0000
4:64322688:CTG:C	donor_gain	1.0000
4:64322688:CTGT:C	donor_gain	1.0000
4:64322688:CTGTG:C	donor_gain	1.0000
4:64322705:TGTTG:T	donor_gain	1.0000
4:64322788:CCCGC:C	acceptor_gain	1.0000
4:64322789:CCGC:C	acceptor_gain	1.0000
4:64322789:CCGCC:C	acceptor_gain	1.0000
4:64322790:CGC:C	acceptor_gain	1.0000
4:64322790:CGCC:C	acceptor_gain	1.0000
4:64322791:GC:G	acceptor_gain	1.0000
4:64322791:GCC:G	acceptor_loss	1.0000
4:64322792:CC:C	acceptor_gain	1.0000
4:64322792:CCTAA:C	acceptor_loss	1.0000
4:64322793:C:CC	acceptor_gain	1.0000
4:64322794:T:A	acceptor_loss	1.0000
4:64322798:A:AC	acceptor_gain	1.0000
4:64375165:AACTT:A	donor_loss	1.0000
4:64375166:ACTT:A	donor_loss	1.0000
4:64375167:CTT:C	donor_loss	1.0000

AlphaMissense

2386 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:64281069:A:C	S312R	0.996
4:64281069:A:T	S312R	0.996
4:64281071:T:G	S312R	0.996
4:64289764:A:G	C260R	0.982
4:64305208:A:G	W230R	0.982
4:64305208:A:T	W230R	0.982
4:64309918:A:G	C189R	0.981
4:64305188:A:C	N236K	0.980
4:64305188:A:T	N236K	0.980
4:64305201:G:T	A232D	0.978
4:64280155:C:G	A337P	0.977
4:64289754:C:T	G263E	0.977
4:64280174:A:C	S330R	0.976
4:64280174:A:T	S330R	0.976
4:64280176:T:G	S330R	0.976
4:64281490:G:T	P301H	0.976
4:64281077:A:G	W310R	0.975
4:64281077:A:T	W310R	0.975
4:64289755:C:G	G263R	0.974
4:64289755:C:T	G263R	0.974
4:64281499:A:T	V298D	0.972
4:64299977:A:C	F257L	0.972
4:64299977:A:T	F257L	0.972
4:64299979:A:G	F257L	0.972
4:64289755:C:A	G263W	0.971
4:64375191:C:A	K89N	0.971
4:64375191:C:G	K89N	0.971
4:64309924:A:G	C187R	0.966
4:64305223:A:G	W225R	0.964
4:64305223:A:T	W225R	0.964

dbSNP variants (sampled 300 via entrez): RS10000515 (4:64398932 G>A,T), RS10000773 (4:64281260 T>A,C,G), RS1000078263 (4:64378002 G>T), RS1000080598 (4:64364480 T>G), RS1000081538 (4:64302346 C>A,T), RS1000086241 (4:64276552 A>G), RS1000110684 (4:64380991 T>G), RS10001161 (4:64281686 T>A,C), RS10001163 (4:64406816 T>A,C), RS1000141860 (4:64349908 A>G), RS1000144841 (4:64325913 A>G), RS1000159166 (4:64349252 C>T), RS1000227684 (4:64280647 T>C,G), RS1000229252 (4:64385952 T>C), RS1000233181 (4:64318342 C>A)

Disease associations

OMIM: gene MIM:617242 | disease phenotypes: MIM:614021, MIM:172800, MIM:604772

GenCC curated gene-disease

Disease	Classification	Inheritance
catecholaminergic polymorphic ventricular tachycardia 3	Definitive	Autosomal recessive
catecholaminergic polymorphic ventricular tachycardia	Definitive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
catecholaminergic polymorphic ventricular tachycardia	Definitive	AR

Mondo (3): catecholaminergic polymorphic ventricular tachycardia 3 (MONDO:0013529), piebaldism (MONDO:0008244), catecholaminergic polymorphic ventricular tachycardia (MONDO:0017990)

Orphanet (2): Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286), Piebaldism (Orphanet:2884)

HPO phenotypes

20 total (20 of 20 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001279	Syncope
HP:0001645	Sudden cardiac death
HP:0001657	Prolonged QT interval
HP:0001663	Ventricular fibrillation
HP:0001695	Cardiac arrest
HP:0001699	Sudden death
HP:0001962	Palpitations
HP:0002321	Vertigo
HP:0003621	Juvenile onset
HP:0004751	Paroxysmal ventricular tachycardia
HP:0004755	Supraventricular tachycardia
HP:0004756	Ventricular tachycardia
HP:0005110	Atrial fibrillation
HP:0005184	Prolonged QTc interval
HP:0006682	Premature ventricular contraction
HP:0011462	Young adult onset
HP:0011463	Childhood onset
HP:0031677	Polymorphic ventricular tachycardia
HP:0034040	Bidirectional ventricular tachycardia

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST001456_5	Kawasaki disease	3.000000e-07
GCST002037_14	Post-traumatic stress disorder (asjusted for relatedness)	7.000000e-06
GCST002115_9	Axial length	3.000000e-06
GCST002927_24	Mercury levels	5.000000e-06
GCST003008_13	Triptolide cytotoxicity	3.000000e-06
GCST003008_6	Triptolide cytotoxicity	5.000000e-06
GCST004862_185	Itch intensity from mosquito bite adjusted by bite size	4.000000e-06
GCST009144_25	Disease progression in age-related macular degeneration (adjusted for baseline)	9.000000e-06
GCST009391_1111	Metabolite levels	7.000000e-06
GCST009391_1715	Metabolite levels	2.000000e-06
GCST009391_2017	Metabolite levels	3.000000e-06
GCST009391_566	Metabolite levels	6.000000e-06
GCST010396_190	Gut microbiota (bacterial taxa, hurdle binary method)	3.000000e-06
GCST010988_216	Adult body size	7.000000e-09
GCST90093092_1	DHEAS levels	6.000000e-06

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005318	axial length measurement
EFO:0006952	cytotoxicity measurement
EFO:0008377	mosquito bite reaction itch intensity measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0008336	disease progression measurement
EFO:0010448	3-hydroxyphenylacetic acid measurement
EFO:0010341	cholesteryl ester 16:0 measurement
EFO:0010348	cholesteryl ester 20:4 measurement
EFO:0010498	hydroxyproline measurement
EFO:0007874	gut microbiome measurement
EFO:0007001	dehydroepiandrosterone sulphate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D016116	Piebaldism	C16.320.290.040.600; C16.320.565.100.102.600; C16.320.850.080.600; C17.800.621.440.102.600; C17.800.827.080.600; C18.452.648.100.102.600

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Nickel	decreases expression	2
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
Sunitinib	decreases expression	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects expression	1
Okadaic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_C1WH	SHETi003-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01377077	PHASE4	UNKNOWN	Punchgrafting Techniques for Vitiligo
NCT01640678	PHASE4	UNKNOWN	Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
NCT02458417	PHASE4	COMPLETED	Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients
NCT02156427	PHASE3	COMPLETED	Evaluation of Non-cultured Epidermal Cellular Grafting vs Hyaluronic Acid for Repigmenting Vitiligo and Piebaldism
NCT06658899	PHASE2	RECRUITING	A Phase 2 Study of CRD-4730 in CPVT
NCT07263139	PHASE2	RECRUITING	Safety, Tolerability, and Exploratory Efficacy of AGP100 in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT07148089	PHASE1	RECRUITING	A Study of SGT-501 Gene Therapy in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT01117454	Not specified	COMPLETED	Flecainide for Catecholaminergic Polymorphic Ventricular Tachycardia
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02927223	Not specified	COMPLETED	Atropine in Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
NCT04124237	Not specified	COMPLETED	Long Term Monitoring for Risk of Sudden Death
NCT04189822	Not specified	ENROLLING_BY_INVITATION	Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank
NCT04650009	Not specified	COMPLETED	Physical Activity in Children With Inherited Cardiac Diseases
NCT04712136	Not specified	COMPLETED	Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations
NCT05521451	Not specified	RECRUITING	Clinical Cohort Study - TRUST
NCT05687474	Not specified	COMPLETED	Baby Detect : Genomic Newborn Screening
NCT06546137	Not specified	RECRUITING	National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry
NCT04919993	Not specified	COMPLETED	CBT for Insomnia in Primary Brain Tumor Patients