Gene Gene information from NCBI Gene database.
Entrez ID 64768
Gene name Inositol-pentakisphosphate 2-kinase
Gene symbol IPPK
Synonyms (NCBI Gene)
C9orf12INSP5K2IP5KIPK1bA476B13.1
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,
miRNA miRNA information provided by mirtarbase database.
556
miRTarBase ID miRNA Experiments Reference
MIRT016168 hsa-miR-590-3p Sequencing 20371350
MIRT027187 hsa-miR-103a-3p Sequencing 20371350
MIRT031925 hsa-miR-16-5p Sequencing 20371350
MIRT720226 hsa-miR-125a-5p HITS-CLIP 19536157
MIRT720225 hsa-miR-4319 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 23203802
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619043 14645 ENSG00000127080
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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

Accession ID Position in sequence Description Type
PF06090 Ins_P5_2-kin 13 457 Inositol-pentakisphosphate 2-kinase Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed, with high expression in heart, brain, testis and placenta. {ECO:0000269|PubMed:12084730}.
Sequence
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system
  Synthesis of pyrophosphates in the cytosol
Synthesis of IPs in the nucleus
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cognitive Dysfunction Associate 19643930
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Associate 19643930, 30132343
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathies Associate 30132343
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 35880269
★☆☆☆☆
Found in Text Mining only
Kidney Diseases Stimulate 19643930
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 33649228
★☆☆☆☆
Found in Text Mining only