Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1431
Gene name Gene Name - the full gene name approved by the HGNC.
Citrate synthase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CS
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This protein is nuclear en
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT032306 hsa-let-7b-5p Proteomics 18668040
MIRT052406 hsa-let-7a-5p CLASH 23622248
MIRT052406 hsa-let-7a-5p CLASH 23622248
MIRT050008 hsa-miR-28-5p CLASH 23622248
MIRT047152 hsa-miR-183-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0004108 Function Citrate (Si)-synthase activity IBA 21873635
GO:0004108 Function Citrate (Si)-synthase activity IDA 9543345
GO:0005634 Component Nucleus HDA 21630459
GO:0005739 Component Mitochondrion HDA 20833797
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118950 2422 ENSG00000062485
Protein
UniProt ID O75390
Protein name Citrate synthase, mitochondrial (EC 2.3.3.1) (Citrate (Si)-synthase)
Protein function Key enzyme of the Krebs tricarboxylic acid cycle which catalyzes the synthesis of citrate from acetyl coenzyme A and oxaloacetate.
PDB 5UZP , 5UZQ , 5UZR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00285 Citrate_synt 71 450 Citrate synthase, C-terminal domain Domain
Sequence
Sequence length 466
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Citrate cycle (TCA cycle)
Glyoxylate and dicarboxylate metabolism
Metabolic pathways
Carbon metabolism
2-Oxocarboxylic acid metabolism
Biosynthesis of amino acids
  Citric acid cycle (TCA cycle)
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathies, Primary, Cardiomyopathies rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377
View all (900 more)
14568902
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
20882379
Psoriasis Psoriasis rs281875215, rs587777763, rs281875213, rs281875212 25574825
Unknown
Disease term Disease name Evidence References Source
Congestive heart failure Congestive heart failure 8922916 ClinVar
Heart failure Heart failure, Left-Sided Heart Failure, Heart Failure, Right-Sided 8922916 ClinVar
Myocardial infarction Myocardial Failure 8922916 ClinVar
Associations from Text Mining
Disease Name Relationship Type References
alpha Thalassemia Associate 28592815, 8611658
Alzheimer Disease Associate 28448944
Amyotrophic Lateral Sclerosis Associate 11841569
Atrial Fibrillation Associate 27199126
Autistic Disorder Associate 37890181
Bipolar Disorder Inhibit 28463235
Breast Neoplasms Associate 36866961, 40696656
Carcinoma Hepatocellular Associate 18216102, 27363021
Carcinoma Pancreatic Ductal Associate 38425123
Carcinoma Renal Cell Associate 32345771