Gene Gene information from NCBI Gene database.
Entrez ID 117283
Gene name Inositol hexakisphosphate kinase 3
Gene symbol IP6K3
Synonyms (NCBI Gene)
IHPK3INSP6K3
Chromosome 6
Chromosome location 6p21.31
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.
30
miRTarBase ID miRNA Experiments Reference
MIRT038242 hsa-miR-330-5p CLASH 23622248
MIRT727440 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT727439 hsa-miR-30b-5p HITS-CLIP 22473208
MIRT727438 hsa-miR-30c-5p HITS-CLIP 22473208
MIRT727436 hsa-miR-30d-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
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 11502751
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606993 17269 ENSG00000161896
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96PC2
Protein name Inositol hexakisphosphate kinase 3 (InsP6 kinase 3) (EC 2.7.4.21) (Inositol hexaphosphate kinase 3)
Protein function Converts inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). Converts 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03770 IPK 198 404 Inositol polyphosphate kinase Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain.
Sequence
MVVQNSADAGDMRAGVQLEPFLHQVGGHMSVMKYDEHTVCKPLVSREQRFYESLPLAMKR
FTPQYKGTVTVHLWKDSTGHLSLVANPVKESQEPFKVSTESAAVAIWQTLQQTTGSNGSD
CTLAQWPHAQLARSPKESPAKALLRSEPHLNTPAFSLVEDTNGNQVERKSFNPWGLQCHQ
AHLTRLCSEYPENKRHRFLLLENVVSQYTHPCVLDLKMGTRQHGDDASEEKKARHMRKCA
QSTSACLGVRICGMQVYQTDKKYFLCKDKYYGRKLSVEGFRQALYQFLHNGSHLRRELLE
PILHQLRALLSVIRSQSSYRFYSSSLLVIYDGQEPPERAPGSPHPHEAPQAAHGSSPGGL
TKVDIRMIDFAHTTYKGYWNEHTTYDGPDPGYIFGLENLIRILQ
DIQEGE
Sequence length 410
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Phosphatidylinositol signaling system   Synthesis of pyrophosphates in the cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM GWAS catalog
★★☆☆☆
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
Alzheimer Disease Alzheimer disease Pubtator 27345265 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 27345265
★☆☆☆☆
Found in Text Mining only
Congenital anomaly of brain Brain malformation BEFREE 30718399
★☆☆☆☆
Found in Text Mining only
Hashimoto Disease Hashimoto Disease BEFREE 30284222
★☆☆☆☆
Found in Text Mining only
Hypothyroidism Hypothyroidism GWASCAT_DG 30595370
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases Inflammatory bowel disease Pubtator 31185018 Associate
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Disorders Neurodegenerative Disorders BEFREE 27345265
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASDB_DG 17804836, 19503088, 21156761
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 31374203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations