Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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3707
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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Inositol-trisphosphate 3-kinase B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
ITPKB |
Synonyms (NCBI Gene)
Gene synonyms aliases
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IP3-3KB, IP3K, IP3K-B, IP3KB, PIG37 |
Chromosome
Chromosome number
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1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1q42.12 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large num |
UniProt ID |
P27987
|
Protein name |
Inositol-trisphosphate 3-kinase B (EC 2.7.1.127) (Inositol 1,4,5-trisphosphate 3-kinase B) (IP3 3-kinase B) (IP3K B) (InsP 3-kinase B) |
Protein function |
Catalyzes the phosphorylation of 1D-myo-inositol 1,4,5-trisphosphate (InsP3) into 1D-myo-inositol 1,3,4,5-tetrakisphosphate and participates to the regulation of calcium homeostasis. {ECO:0000269|PubMed:11846419, ECO:0000269|PubMed:12747803, ECO |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03770
|
IPK |
726 → 937 |
Inositol polyphosphate kinase |
Family |
|
Sequence |
|
Sequence length |
946 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Parkinson disease |
Parkinson Disease |
rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106 View all (84 more) |
28892059 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Parkinson Disease |
Parkinson Disease |
|
|
GWAS |
Hyperopia |
Hyperopia |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Dental caries |
Dental caries |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Autism Spectrum Disorder |
Associate
|
37407249 |
Carcinoma Renal Cell |
Associate
|
34598322 |
Carcinoma Small Cell |
Associate
|
26642205 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
36768321 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
35937947 |
Hodgkin Disease |
Associate
|
29650799, 31822802, 32079702 |
Lupus Erythematosus Systemic |
Associate
|
34084162 |
Lymphoma |
Associate
|
36306325 |
Lymphoma B Cell |
Associate
|
26819451 |
Lymphoma Large B Cell Diffuse |
Associate
|
33684939 |
Melanoma |
Associate
|
16946712 |
Parkinson Disease |
Associate
|
36768321 |
|