PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 23262 |
| Gene name | Diphosphoinositol pentakisphosphate kinase 2 |
| Gene symbol | PPIP5K2 |
| Synonyms (NCBI Gene) |
CFAP160DFNB100HISPPD1IP7K2VIP2
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| Chromosome | 5 |
| Chromosome location | 5q21.1 |
| Summary | This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This k |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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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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O43314 | |||||||||||||||
| Protein name | Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 (EC 2.7.4.24) (Diphosphoinositol pentakisphosphate kinase 2) (Histidine acid phosphatase domain-containing protein 1) (InsP6 and PP-IP5 kinase 2) (VIP1 homolog 2) (hsVIP2) | |||||||||||||||
| Protein function | Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrak | |||||||||||||||
| PDB | 3T54 , 3T7A , 3T99 , 3T9A , 3T9B , 3T9C , 3T9D , 3T9E , 3T9F , 4HN2 , 4NZM , 4NZN , 4NZO , 4Q4C , 4Q4D , 5BYA , 5BYB , 5DGH , 5DGI , 6N5C , 8G9E | |||||||||||||||
| Family and domains |
Pfam
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| Sequence |
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| Sequence length | 1243 | |||||||||||||||
| 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.).
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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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