SUGCT (succinyl-CoA:glutarate-CoA transferase)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 79783
Gene name Succinyl-CoA:glutarate-CoA transferase
Gene symbol SUGCT
Synonyms (NCBI Gene)
C7orf10DERP13GA3ORF19
Chromosome 7
Chromosome location 7p14.1
Summary 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. [provided by RefSeq,
SNPs SNP information provided by dbSNP.
2
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs137852860 C>T Pathogenic, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, missense variant, coding sequence variant
rs137852861 C>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 23893049
GO:0005739 Component Mitochondrion IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609187 16001 ENSG00000175600
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAC7
Protein name Succinyl-CoA:glutarate CoA-transferase (EC 2.8.3.-) (Dermal papilla-derived protein 13) (Dicarboxyl-CoA:dicarboxylic acid coenzyme A transferase SUGCT) (Succinate--hydroxymethylglutarate CoA-transferase) (EC 2.8.3.13)
Protein 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 g
PDB 9BR6 , 9BR7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02515 CoA_transf_3 48 → 415 CoA-transferase family III Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney. Intermediate expression in liver, skeletal muscle and pancreas. Little to no expression detected in other tissues examined. {ECO:0000269|PubMed:11829489}.
Sequence
Sequence length 445
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Glutaryl-CoA oxidase deficiency Pathogenic; Likely pathogenic rs137852861, rs2150734056 RCV000001924
RCV003331989
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMORRHOID — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LANGUAGE IMPAIRMENT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abdominal Migraine Abdominal Migraine CTD_human_DG 23793025
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne GWASCAT_DG 30542056
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Confusional Migraine Confusional Migraine CTD_human_DG 23793025
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervical Migraine Syndrome Migraine CTD_human_DG 23793025
★★★★★
★☆☆☆☆
Found in Text Mining only
Common Migraine Common Migraine GWASDB_DG 23793025
★★★★★
★☆☆☆☆
Found in Text Mining only
Glutaric acidemia type 3 Glutaric acidemia Orphanet
★★★★★
★☆☆☆☆
Found in Text Mining only
Glutaric Aciduria III Glutaric acidemia UNIPROT_DG 18926513, 23893049
★★★★★
★☆☆☆☆
Found in Text Mining only
Glutaric Aciduria III Glutaric acidemia ORPHANET_DG 18926513
★★★★★
★☆☆☆☆
Found in Text Mining only
Glutaric Aciduria III Glutaric acidemia GENOMICS_ENGLAND_DG 27604308
★★★★★
★☆☆☆☆
Found in Text Mining only
Glutaric Aciduria III Glutaric acidemia CLINVAR_DG
★★★★★
★☆☆☆☆
Found in Text Mining only