IPPK (inositol-pentakisphosphate 2-kinase)
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Gene
Gene information from NCBI Gene database.
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| Entrez ID | 64768 |
| Gene name | Inositol-pentakisphosphate 2-kinase |
| Gene symbol | IPPK |
| Synonyms (NCBI Gene) |
C9orf12INSP5K2IP5KIPK1bA476B13.1
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| Chromosome | 9 |
| Chromosome location | 9q22.31 |
| Summary | The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, |
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miRNA
miRNA information provided by mirtarbase database.
556
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Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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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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Q9H8X2 | ||||||||||
| Protein name | Inositol-pentakisphosphate 2-kinase (EC 2.7.1.158) (IPK1 homolog) (Inositol-1,3,4,5,6-pentakisphosphate 2-kinase) (Ins(1,3,4,5,6)P5 2-kinase) (InsP5 2-kinase) | ||||||||||
| Protein function | Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TN | ||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in heart, brain, testis and placenta. {ECO:0000269|PubMed:12084730}. | ||||||||||
| Sequence |
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| Sequence length | 491 | ||||||||||
| 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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