Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3633
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Inositol polyphosphate-5-phosphatase B |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
INPP5B |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
5PTase |
Chromosome
Chromosome number
|
1 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
1p34.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and assoc |
UniProt ID |
P32019
|
Protein name |
Type II inositol 1,4,5-trisphosphate 5-phosphatase (EC 3.1.3.36) (75 kDa inositol polyphosphate-5-phosphatase) (Phosphoinositide 5-phosphatase) (5PTase) |
Protein function |
Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events. |
PDB |
3MTC
,
3N9V
,
4CML
,
5A7I
,
5A7J
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF16776
|
INPP5B_PH |
1 → 149 |
Type II inositol 1,4,5-trisphosphate 5-phosphatase PH domain |
Domain |
PF03372
|
Exo_endo_phos |
350 → 629 |
Endonuclease/Exonuclease/phosphatase family |
Domain |
PF00620
|
RhoGAP |
830 → 972 |
RhoGAP domain |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Platelets. |
Sequence |
|
Sequence length |
993 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Dent`s disease |
Dent Disease 2 |
rs137853262, rs137853263, rs151340620, rs151340621, rs151340622, rs151340623, rs151340625, rs151340626, rs151340630, rs1569540382, rs2124412922, rs2124388022, rs273585644, rs137853846, rs797044808, rs797044810, rs797044811, rs797044812, rs797044813, rs797044814, rs797044815, rs776743373, rs1057521742, rs1557194353, rs1557192084, rs1049618423, rs773387490, rs1556338810, rs1569540047, rs1569540369, rs1602819835 View all (16 more) |
28018608 |
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
30595370 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Myocardial Infarction |
Myocardial Infarction |
|
|
GWAS |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GWAS, CBGDA |
Alzheimer disease |
Alzheimer disease |
|
|
GWAS |
Carcinoma |
Carcinoma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Neoplasms |
Associate
|
27057633 |
|