Gene Gene information from NCBI Gene database.
Entrez ID 56474
Gene name CTP synthase 2
Gene symbol CTPS2
Synonyms (NCBI Gene)
GATD5B
Chromosome X
Chromosome location Xp22.2
Summary The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various
miRNA miRNA information provided by mirtarbase database.
283
miRTarBase ID miRNA Experiments Reference
MIRT026439 hsa-miR-192-5p Microarray 19074876
MIRT482933 hsa-miR-4475 PAR-CLIP 23592263
MIRT482932 hsa-miR-512-5p PAR-CLIP 23592263
MIRT482931 hsa-miR-510-5p PAR-CLIP 23592263
MIRT482930 hsa-miR-4494 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003883 Function CTP synthase activity IBA
GO:0003883 Function CTP synthase activity IDA 16179339, 31873303
GO:0003883 Function CTP synthase activity IEA
GO:0003883 Function CTP synthase activity TAS 10899599
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300380 2520 ENSG00000047230
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRF8
Protein name CTP synthase 2 (EC 6.3.4.2) (CTP synthetase 2) (UTP--ammonia ligase 2)
Protein function Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as the source of nitrogen. Constitutes the rate-limiting enzyme in the synthesis of cytosine nucleotides. {ECO:0000269|PubMed:10899599, ECO:0000269|PubMed:161
PDB 2V4U , 2VKT , 3IHL , 6PK4 , 6PK7 , 7MH1 , 7MIH , 7MII
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06418 CTP_synth_N 2 272 CTP synthase N-terminus Domain
PF00117 GATase 309 546 Glutamine amidotransferase class-I Domain
Sequence
Sequence length 586
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pyrimidine metabolism
Metabolic pathways
Nucleotide metabolism
Biosynthesis of cofactors
  Interconversion of nucleotide di- and triphosphates
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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
CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Laterality defects, autosomal dominant Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma of Lung Associate 34996932
★☆☆☆☆
Found in Text Mining only
Diabetic Foot Associate 38287255
★☆☆☆☆
Found in Text Mining only
Epstein Barr Virus Infections Associate 34281398
★☆☆☆☆
Found in Text Mining only
Infectious Mononucleosis Associate 29176466
★☆☆☆☆
Found in Text Mining only
Lymphoma Associate 29176466
★☆☆☆☆
Found in Text Mining only
Lymphoproliferative Disorders Associate 34281398
★☆☆☆☆
Found in Text Mining only
Nance Horan syndrome Associate 35122698
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 31173206
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Associate 31173206
★☆☆☆☆
Found in Text Mining only
Primary Immunodeficiency Diseases Associate 29176466
★☆☆☆☆
Found in Text Mining only