Gene Gene information from NCBI Gene database.
Entrez ID 51447
Gene name Inositol hexakisphosphate kinase 2
Gene symbol IP6K2
Synonyms (NCBI Gene)
IHPK2InsP6K2PIUS
Chromosome 3
Chromosome location 3p21.31
Summary This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,
miRNA miRNA information provided by mirtarbase database.
151
miRTarBase ID miRNA Experiments Reference
MIRT003850 hsa-miR-1-3p Microarray 15685193
MIRT003850 hsa-miR-1-3p Microarray;Other 15685193
MIRT003850 hsa-miR-1-3p Microarray 18668037
MIRT027801 hsa-miR-98-5p Microarray 19088304
MIRT040826 hsa-miR-18a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000827 Function Inositol-1,3,4,5,6-pentakisphosphate kinase activity IEA
GO:0000827 Function Inositol-1,3,4,5,6-pentakisphosphate kinase activity TAS
GO:0000828 Function Inositol hexakisphosphate kinase activity IBA
GO:0000828 Function Inositol hexakisphosphate kinase activity IDA 10574768
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606992 17313 ENSG00000068745
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UHH9
Protein name Inositol hexakisphosphate kinase 2 (InsP6 kinase 2) (InsP6K2) (EC 2.7.4.-) (P(i)-uptake stimulator) (PiUS)
Protein function Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03770 IPK 203 418 Inositol polyphosphate kinase Family
Sequence
MSPAFRAMDVEPRAKGVLLEPFVHQVGGHSCVLRFNETTLCKPLVPREHQFYETLPAEMR
KFTPQYKGVVSVRFEEDEDRNLCLIAYPLKGDHGIVDIVDNSDCEPKSKLLRWTTNKKHH
VLETEKTPKDWVRQHRKEEKMKSHKLEEEFEWLKKSEVLYYTVEKKGNISSQLKHYNPWS
MKCHQQQLQRMKENAKHRNQYKFILLENLTSRYEVPCVLDLKMGTRQHGDDASEEKAANQ
IRKCQQSTSAVIGVRVCGMQVYQAGSGQLMFMNKYHGRKLSVQGFKEALFQFFHNGRYLR
RELLGPVLKKLTELKAVLERQESYRFYSSSLLVIYDGKERPEVVLDSDAEDLEDLSEESA
DESAGAYAYKPIGASSVDVRMIDFAHTTCRLYGEDTVVHEGQDAGYIFGLQSLIDIVT
EI
SEESGE
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phosphatidylinositol signaling system   Synthesis of IPs in the nucleus
Interferon alpha/beta signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Akinetic-Rigid Variant of Huntington Disease Akinetic-Rigid Variant Of Huntington Disease CTD_human_DG 21652713
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 39741260 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 22446964 Associate
★☆☆☆☆
Found in Text Mining only
Autonomic Nervous System Diseases Autonomic nervous system disease Pubtator 34994165 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31856847 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 21078964 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 32176627 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35156508 Associate
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington Disease CTD_human_DG 21652713
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Huntington Disease, Late Onset Huntington Disease CTD_human_DG 21652713
★☆☆☆☆
Found in Text Mining only