SUGCT

Summary

SUGCT (succinyl-CoA:glutarate-CoA transferase, HGNC:16001) is a protein-coding gene on chromosome 7p14.1, encoding Succinyl-CoA:glutarate CoA-transferase (Q9HAC7). Coenzyme A (CoA) transferase that reversibly catalyzes the transfer of a CoA moiety from a dicarboxyl-CoA to a dicarboxylate in a metabolite recycling process.

This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 79783 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glutaric acidemia type 3 (Strong, GenCC)
• GWAS associations: 31
• Clinical variants (ClinVar): 211 total — 6 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 20
• MANE Select transcript: NM_001193313

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16001
Approved symbol	SUGCT
Name	succinyl-CoA:glutarate-CoA transferase
Location	7p14.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ11808, ORF19, DERP13
Ensembl gene	ENSG00000175600
Ensembl biotype	protein_coding
OMIM	609187
Entrez	79783

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 7 protein_coding, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000335693, ENST00000401647, ENST00000413931, ENST00000416370, ENST00000444074, ENST00000460466, ENST00000464028, ENST00000488110, ENST00000628514, ENST00000874500, ENST00000874501, ENST00000874502

RefSeq mRNA: 4 — MANE Select: NM_001193313 NM_001193311, NM_001193312, NM_001193313, NM_024728

CCDS: CCDS55104, CCDS55105, CCDS55106

Canonical transcript exons

ENST00000335693 — 14 exons

Exon	Start	End
ENSE00000976639	40449287	40449358
ENSE00000976641	40496284	40496386
ENSE00001085186	40274513	40274656
ENSE00001266503	40749434	40749497
ENSE00001266521	40459101	40459198
ENSE00001266566	40180947	40180998
ENSE00001355357	40237635	40237726
ENSE00001554618	40135005	40135120
ENSE00001803133	40860316	40860763
ENSE00003554062	40188495	40188580
ENSE00003558699	40316760	40316855
ENSE00003658015	40189544	40189594
ENSE00003658366	40181955	40182028
ENSE00003790850	40194940	40195060

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 96.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8709 / max 858.9490, expressed in 1332 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78283	5.3809	1319
78288	2.6088	238
78287	0.8764	161
78289	0.0048	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	96.72	gold quality
oocyte	CL:0000023	95.78	gold quality
right coronary artery	UBERON:0001625	95.78	gold quality
ascending aorta	UBERON:0001496	95.41	gold quality
thoracic aorta	UBERON:0001515	95.34	gold quality
right adrenal gland	UBERON:0001233	94.45	gold quality
left adrenal gland cortex	UBERON:0035825	93.64	gold quality
descending thoracic aorta	UBERON:0002345	93.20	gold quality
adrenal cortex	UBERON:0001235	93.19	gold quality
left adrenal gland	UBERON:0001234	92.28	gold quality
aorta	UBERON:0000947	91.41	gold quality
left coronary artery	UBERON:0001626	91.26	gold quality
coronary artery	UBERON:0001621	91.07	gold quality
adrenal gland	UBERON:0002369	89.41	gold quality
secondary oocyte	CL:0000655	89.04	gold quality
popliteal artery	UBERON:0002250	88.54	gold quality
tibial artery	UBERON:0007610	88.51	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.39	gold quality
right lobe of liver	UBERON:0001114	87.93	gold quality
nephron tubule	UBERON:0001231	87.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.25	gold quality
mucosa of transverse colon	UBERON:0004991	86.49	gold quality
saphenous vein	UBERON:0007318	86.01	gold quality
adult mammalian kidney	UBERON:0000082	85.97	gold quality
kidney epithelium	UBERON:0004819	84.05	gold quality
blood vessel layer	UBERON:0004797	83.43	gold quality
liver	UBERON:0002107	83.18	gold quality
stromal cell of endometrium	CL:0002255	83.03	gold quality
calcaneal tendon	UBERON:0003701	82.96	gold quality
kidney	UBERON:0002113	82.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	57.23
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

19 targeting SUGCT, 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-188-3P	100.00	68.76	1240
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3175	99.65	66.30	2031
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-4460	99.37	68.52	615
HSA-MIR-2115-3P	99.31	69.68	2026
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4653-3P	96.26	67.03	725
HSA-MIR-4423-5P	95.24	64.42	454
HSA-MIR-6750-5P	93.94	66.68	797
HSA-MIR-6822-5P	93.94	66.34	812

Literature-anchored findings (GeneRIF, showing 5)

• Geneic mapping of GA3 to chromosome 7 and identification of mutations in c7orf10 are reported. (PMID:18926513)
• Identified as a candidate disease gene for OXPHOS disorders by next-generation sequencing (PMID:22277967)
• C7orf10 encodes succinate-hydroxymethylglutarate CoA-transferase, which is the enzyme that converts glutarate to glutaryl-CoA (PMID:23893049)
• Chromosome microarray analysis showed a 125kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis. (PMID:29421601)
• Glutaric aciduria type 3 is a naturally occurring biochemical trait in inbred mice of 129 substrains. (PMID:33483254)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sugct	ENSDARG00000102341
mus_musculus	Sugct	ENSMUSG00000055137
rattus_norvegicus	Sugct	ENSRNOG00000066247
drosophila_melanogaster	CG10877	FBGN0038804

Paralogs (1): AMACR (ENSG00000242110)

Protein

Protein identifiers

Succinyl-CoA:glutarate CoA-transferase — Q9HAC7 (reviewed: Q9HAC7)

Alternative names: Dermal papilla-derived protein 13, Dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase SUGCT, Succinate–hydroxymethylglutarate CoA-transferase

All UniProt accessions (4): Q9HAC7, H0Y4N1, H7C0H3, H7C1N0

UniProt curated annotations — full annotation on UniProt →

Function. Coenzyme A (CoA) transferase that reversibly catalyzes the transfer of a CoA moiety from a dicarboxyl-CoA to a dicarboxylate in a metabolite recycling process. Displays preference for succinyl-CoA and glutarate-CoA as dicarboxyl-CoA donors and glutarate, succinate, adipate/hexanedioate, itaconate and 3-hydroxy-3-methylglutarate as dicarboxylate acceptors. Acts on intermediates or end products of lysine and tryptophan degradation pathway, in particular catalyzes succinyl-CoA-dependent reesterification of free glutarate into glutaryl-CoA to prevent renal excretion of glutarate. Upon inflammation, may convert macrophage-derived itaconate to itaconyl-CoA in erythroid precursors where it negatively regulates the TCA cycle and heme synthesis to limit erythroid differentiation in the context of stress erythropoiesis.

Subcellular location. Mitochondrion.

Tissue specificity. Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined.

Disease relevance. Glutaric aciduria 3 (GA3) [MIM:231690] An autosomal recessive metabolic condition characterized by urinary excretion of abnormal quantities of glutaric acid, in the presence of normal 3-hydroxyglutarate, glutarylcarnitine and glutarylglycine urinary levels. Affected individuals show no consistent clinical phenotype and many are asymptomatic. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Inhibited by valsartan and losartan carboxylate.

Similarity. Belongs to the CoA-transferase III family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9HAC7-1	1	yes
Q9HAC7-2	2
Q9HAC7-3	3
Q9HAC7-4	4

RefSeq proteins (4): NP_001180240, NP_001180241, NP_001180242, NP_079004 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003673	CoA-Trfase_fam_III	Family
IPR023606	CoA-Trfase_III_dom_1_sf	Homologous_superfamily
IPR044855	CoA-Trfase_III_dom3_sf	Homologous_superfamily
IPR050483	CoA-transferase_III_domain	Family

Pfam: PF02515

Enzyme classification (BRENDA):

• EC 2.8.3.13 — succinate-hydroxymethylglutarate CoA-transferase (BRENDA: 2 organisms, 38 substrates, 16 inhibitors, 63 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

13 substrates with measured Km, best-characterized 13. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
3-HYDROXY-3-METHYLGLUTARATE	0.76–2.33	7
MALONYL-COA	0.13–0.7	6
SUCCINATE	0.5–1.2	6
SUCCINYL-COA	0.15–0.83	6
ADIPATE	0.39–1.51	5
ADIPYL-COA	0.07–0.4	5
GLUTARATE	0.18–0.84	5
GLUTARYL-COA	0.07–0.73	5
METHYLMALONATE	1.95–3.05	5
3-HYDROXY-3-METHYLGLUTARYL-COA	0.18–0.62	4
MALONATE	1.01–1.71	4
METHYLMALONYL-COA	0.65–0.87	4
SUCCINYLCOA	0.75	1

Catalyzed reactions (Rhea), 6 shown:

• 3-hydroxy-3-methylglutarate + succinyl-CoA = (3S)-3-hydroxy-3-methylglutaryl-CoA + succinate (RHEA:12284)
• itaconate + succinyl-CoA = itaconyl-CoA + succinate (RHEA:38283)
• glutarate + succinyl-CoA = glutaryl-CoA + succinate (RHEA:67900)
• hexanedioate + glutaryl-CoA = hexanedioyl-CoA + glutarate (RHEA:81711)
• itaconate + glutaryl-CoA = itaconyl-CoA + glutarate (RHEA:81715)
• 3-hydroxy-3-methylglutarate + glutaryl-CoA = (3S)-3-hydroxy-3-methylglutaryl-CoA + glutarate (RHEA:81723)

UniProt features (54 total): helix 19, strand 16, turn 7, splice variant 3, sequence variant 3, transit peptide 1, chain 1, mutagenesis site 1, sequence conflict 1, active site 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
9BR7	X-RAY DIFFRACTION	2.08
9BR6	X-RAY DIFFRACTION	2.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HAC7-F1	91.94	0.90

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): 205 (nucleophile)

Post-translational modifications (1): 394

Mutagenesis-validated functional residues (1):

Position	Phenotype
205	loss of coa transferase activity toward glutaryl-coa and 3-hydroxy-3-methylglutarate substrates.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 139 (showing top): SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, AACTTT_UNKNOWN, IK3_01, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, AR_01, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_SULPHUR_CONTAINING_GROUPS, ANASTASSIOU_MULTICANCER_INVASIVENESS_SIGNATURE, SRC_UP.V1_UP, PTEN_DN.V1_DN, SIRNA_EIF4GI_UP, KRAS.DF.V1_UP, GOMF_COA_TRANSFERASE_ACTIVITY, BARX1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (3): succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369), catalytic activity (GO:0003824), transferase activity (GO:0016740)

GO Cellular Component (1): mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
CoA-transferase activity	1
molecular_function	1
catalytic activity	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1128 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUGCT	MPLKIP	Q8TAP9	986
SUGCT	GCDH	Q92947	750
SUGCT	DNAJC28	Q9NX36	667
SUGCT	FAM3B	P58499	609
SUGCT	FAM120C	Q9NX05	608
SUGCT	CWC15	Q9P013	578
SUGCT	CTTNBP2	Q8WZ74	576
SUGCT	RPGR	Q92834	576
SUGCT	SGCE	O43556	550
SUGCT	STS	P08842	549
SUGCT	MINDY3	Q9H8M7	549
SUGCT	A6NFB4	A6NFB4	549
SUGCT	CSH1	P01243	548
SUGCT	CSH1	P01243	546
SUGCT	ASZ1	Q8WWH4	507

IntAct

11 interactions, top by confidence:

A	B	Type	Score
SUGCT	ATP5F1B	psi-mi:“MI:0914”(association)	0.350
SUGCT	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
MALSU1	VWA8	psi-mi:“MI:0914”(association)	0.350
PFDN5	GTPBP10	psi-mi:“MI:0914”(association)	0.350
BSG	METTL15	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
SKAP1	MYO9A	psi-mi:“MI:0914”(association)	0.350
GPR45	VWA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): SUGCT (Affinity Capture-MS), SUGCT (Affinity Capture-MS), MRPL1 (Affinity Capture-MS), CYCS (Affinity Capture-MS), BCKDHA (Affinity Capture-MS), ATP5F1 (Affinity Capture-MS), ECH1 (Affinity Capture-MS), ATP5C1 (Affinity Capture-MS), MRPL54 (Affinity Capture-MS), C1QBP (Affinity Capture-MS), POLDIP2 (Affinity Capture-MS), PMPCA (Affinity Capture-MS), CHCHD4 (Affinity Capture-MS), SUGCT (Affinity Capture-MS), SUGCT (Affinity Capture-MS)

ESM2 similar proteins: A1ADQ1, A4YXN2, A5EGD7, A7ZPI2, A8A2M8, A9WC39, A9WGE3, A9X6P9, B1IX88, B1LMH0, B1X9P6, B2TWX3, B3QBS6, B5RGA5, B5YYX4, B6I6S5, B6JE29, B7LBS7, B7M6P3, B7MH34, B7MY33, B7N5X4, B7NPQ8, B7UG84, C4ZVR1, K3VD64, O06644, P69902, P69903, P76518, Q07Q82, Q0T2C3, Q0TF87, Q139H7, Q1KLK0, Q1R8Z2, Q217M3, Q2IUI7, Q31Y97, Q32DG9

Diamond homologs: A1ADQ1, A4YXN2, A5EGD7, A6W2K8, A7ZPI2, A8A2M8, A9WC39, A9WGE3, A9X6P9, B1IX88, B1LMH0, B1X9P6, B2TWX3, B3QBS6, B5YYX4, B6I6S5, B6JE29, B7LBS7, B7M6P3, B7MH34, B7MY33, B7N5X4, B7NPQ8, B7UG84, C4ZVR1, G0HQ31, K3VD64, O06543, O06644, O87838, P69902, P69903, P76518, Q07Q82, Q0T2C3, Q0TF87, Q139H7, Q1KLK0, Q1R8Z2, Q217M3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	2
Uncertain significance	100
Likely benign	43
Benign	50

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1850	NM_001193313.2(SUGCT):c.514C>T (p.Arg172Ter)	Pathogenic
686037	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	Pathogenic
686995	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	Pathogenic
687971	GRCh37/hg19 7p14.1(chr7:40438476-40493996)x1	Pathogenic
688539	GRCh37/hg19 7p14.1(chr7:40473798-40522693)x1	Pathogenic
688860	GRCh37/hg19 7p14.1(chr7:40242536-40288569)x1	Pathogenic
2581584	NM_001193313.2(SUGCT):c.313-1G>C	Likely pathogenic
4845907	NM_001193313.2(SUGCT):c.1014G>A (p.Trp338Ter)	Likely pathogenic

SpliceAI

5699 predictions. Top by Δscore:

Variant	Effect	Δscore
7:40180936:T:TA	acceptor_gain	1.0000
7:40180943:CCAGA:C	acceptor_loss	1.0000
7:40180944:CAG:C	acceptor_loss	1.0000
7:40180945:A:AG	acceptor_gain	1.0000
7:40180946:G:A	acceptor_loss	1.0000
7:40180946:G:GG	acceptor_gain	1.0000
7:40180946:GAT:G	acceptor_gain	1.0000
7:40181945:A:AG	acceptor_gain	1.0000
7:40181946:A:G	acceptor_gain	1.0000
7:40181947:C:G	acceptor_gain	1.0000
7:40181948:A:AG	acceptor_gain	1.0000
7:40181949:T:G	acceptor_gain	1.0000
7:40181954:GA:G	acceptor_gain	1.0000
7:40182024:ACCAG:A	donor_loss	1.0000
7:40182025:CCAGG:C	donor_loss	1.0000
7:40182026:CAG:C	donor_loss	1.0000
7:40182027:AGG:A	donor_loss	1.0000
7:40182028:GGTAA:G	donor_loss	1.0000
7:40182029:G:T	donor_loss	1.0000
7:40182030:T:G	donor_loss	1.0000
7:40185011:ATATT:A	donor_gain	1.0000
7:40188581:G:GG	donor_gain	1.0000
7:40194938:A:AG	acceptor_gain	1.0000
7:40194939:G:GG	acceptor_gain	1.0000
7:40194939:GC:G	acceptor_gain	1.0000
7:40194939:GCTT:G	acceptor_gain	1.0000
7:40195057:ACAG:A	donor_loss	1.0000
7:40195058:CAG:C	donor_loss	1.0000
7:40195059:AG:A	donor_loss	1.0000
7:40195060:GG:G	donor_loss	1.0000

AlphaMissense

2892 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:40188576:A:T	K110I	0.999
7:40274550:A:T	D212V	0.999
7:40180995:C:T	T57I	0.998
7:40188577:A:C	K110N	0.998
7:40188577:A:T	K110N	0.998
7:40194972:C:A	N139K	0.998
7:40194972:C:G	N139K	0.998
7:40274549:G:C	D212H	0.998
7:40274550:A:C	D212A	0.998
7:40274550:A:G	D212G	0.998
7:40274551:T:A	D212E	0.998
7:40274551:T:G	D212E	0.998
7:40188560:A:C	S105R	0.997
7:40188562:T:A	S105R	0.997
7:40188562:T:G	S105R	0.997
7:40237677:A:T	D183V	0.997
7:40274562:G:A	G216D	0.997
7:40316845:T:A	V276D	0.997
7:40182015:A:C	K78N	0.996
7:40182015:A:T	K78N	0.996
7:40188503:G:C	D86H	0.996
7:40188518:T:A	W91R	0.996
7:40188518:T:C	W91R	0.996
7:40188545:A:C	S100R	0.996
7:40188547:T:A	S100R	0.996
7:40188547:T:G	S100R	0.996
7:40188575:A:G	K110E	0.996
7:40189544:A:C	S112R	0.996
7:40189546:T:A	S112R	0.996
7:40189546:T:G	S112R	0.996

dbSNP variants (sampled 300 via entrez): RS1000003133 (7:40816976 T>C), RS1000004248 (7:40420363 G>A), RS1000005921 (7:40291176 A>T), RS1000007154 (7:40484182 C>T), RS1000008159 (7:40530359 T>C), RS1000011960 (7:40987712 A>C), RS1000012756 (7:40671577 T>A,C), RS1000013 (7:40550970 C>T), RS1000014538 (7:40350553 A>T), RS1000019883 (7:40762645 C>CT), RS1000024385 (7:40197939 A>G), RS1000024889 (7:40276810 T>C), RS1000030627 (7:40483279 A>T), RS1000031087 (7:40945079 A>G), RS1000033137 (7:40716737 C>T)

Disease associations

OMIM: gene MIM:609187 | disease phenotypes: MIM:231690

GenCC curated gene-disease

Disease	Classification	Inheritance
glutaric acidemia type 3	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
glutaric acidemia type 3	Moderate	AR

Mondo (1): glutaric acidemia type 3 (MONDO:0009283)

Orphanet (1): Glutaric acidemia type 3 (Orphanet:35706)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000822	Hypertension
HP:0000836	Hyperthyroidism
HP:0000853	Goiter
HP:0000960	Sacral dimple
HP:0001254	Lethargy
HP:0001263	Global developmental delay
HP:0001328	Specific learning disability
HP:0001508	Failure to thrive
HP:0001993	Ketoacidosis
HP:0002013	Vomiting
HP:0002014	Diarrhea
HP:0002500	Abnormal cerebral white matter morphology
HP:0002518	Abnormal periventricular white matter morphology
HP:0002919	Ketonuria
HP:0003150	Glutaric aciduria
HP:0003530	Elevated circulating glutaric acid concentration
HP:0011021	Abnormal circulating enzyme concentration
HP:0034688	Reduced peroxisomal glutaryl-CoA oxidase activity
HP:0100710	Impulsivity

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST002078_15	Migraine without aura	6.000000e-08
GCST002079_7	Migraine - clinic-based	7.000000e-07
GCST002081_32	Migraine	1.000000e-09
GCST002371_2	Parent of origin effect on language impairment (paternal)	4.000000e-07
GCST002991_15	Pancreatic cancer	1.000000e-08
GCST003121_13	Alcohol dependence	6.000000e-06
GCST003720_29	Migraine	1.000000e-15
GCST003986_16	Migraine	9.000000e-09
GCST003993_37	Menarche (age at onset)	4.000000e-10
GCST003996_17	Monobrow	3.000000e-10
GCST004278_12	Pulse pressure	7.000000e-12
GCST005434_20	Pancreatic cancer	1.000000e-08
GCST006009_4	Pulse pressure	1.000000e-08
GCST006085_38	Prostate cancer	7.000000e-14
GCST007096_176	Pulse pressure	2.000000e-12
GCST007097_41	Pulse pressure	5.000000e-06
GCST007099_39	Systolic blood pressure	2.000000e-06
GCST007267_320	Systolic blood pressure	3.000000e-13
GCST007269_211	Pulse pressure	1.000000e-24
GCST007705_53	Pulse pressure	6.000000e-09
GCST007705_55	Pulse pressure	1.000000e-08
GCST007939_13	Medication use (antimigraine preparations)	2.000000e-08
GCST007976_2	Postoperative myocardial infarction after cardiac surgery	1.000000e-06
GCST008176_7	Gestational age at birth (child effect)	3.000000e-06
GCST008758_64	Pre-treatment viral load in HIV-1 infection	3.000000e-17
GCST010732_10	Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer	3.000000e-06
GCST010732_14	Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer	6.000000e-06
GCST012231_245	A body shape index	3.000000e-08
GCST90006998_3	Gut microbiota relative abundance (Dorea)	7.000000e-06
GCST90014033_79	Haemorrhoidal disease	1.000000e-12

EFO canonical traits (12, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0007906	synophrys measurement
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0009939	Antimigraine preparation use measurement
EFO:0009951	response to surgery
EFO:0009953	post-operative myocardial infarction
EFO:0005112	gestational age
EFO:0010125	viral load
EFO:0005260	response to antimicrotubule agent
EFO:0007789	BMI-adjusted waist circumference
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C562818	Glutaric Aciduria III (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs4379368	Toxicity	3	hormonal contraceptives for systemic use

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs17171676	SUGCT		0.00	0
rs4379368	SUGCT	3	2.50	1	hormonal contraceptives for systemic use

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	6
Benzo(a)pyrene	decreases expression	5
Aflatoxin B1	decreases expression, increases methylation	4
lasiocarpine	decreases expression	2
methyleugenol	decreases expression	2
N-Nitrosopyrrolidine	decreases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
quercitrin	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
aflatoxin B2	affects methylation	1
avobenzone	increases expression	1
chloropicrin	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Zoledronic Acid	increases expression	1
Acetaminophen	decreases expression	1
Cadmium	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Drugs, Chinese Herbal	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Lead	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Mustard Gas	increases expression	1
Naphthoquinones	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Toluene	decreases expression	1

Clinical trials (associated diseases)

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