CTPS2 (CTP synthase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 56474 |
| Gene name | CTP synthase 2 |
| Gene symbol | CTPS2 |
| Synonyms (NCBI Gene) |
GATD5B
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| 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 |
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miRNA
miRNA information provided by mirtarbase database.
283
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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Protein
Protein information from UniProt database.
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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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
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| Sequence | ||||||||||||||||
| Sequence length | 586 | |||||||||||||||
| Interactions | View interactions | |||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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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)
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