Gene Information
|
Gene Name
|
INPP5E |
|
Gene ID
|
56623
|
|
Gene Full Name
|
inositol polyphosphate-5-phosphatase E |
|
Gene Alias
|
CORS1|CPD4|JBTS1|MORMS|PPI5PIV|pharbin |
|
Transcripts
|
ENSG00000148384
|
|
Virus
|
MCV |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Golgi apparatus;Nucleoplasm, Focal adhesion sites; 
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins |
|
Uniport_ID
|
Q9NRR6
|
|
HGNC ID
|
HGNC:21474
|
|
OMIM ID
|
613037 |
|
Summary
|
The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] |
Target gene [INPP5E] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 7000029 |
chr9 |
7685 |
6549 |
1903 |
16137 |
View |
Target gene [INPP5E] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE147406
|
Chip-seq |
39 |
Illumina NextSeq 500 (Homo sapiens) |
|
C GSE230758
|
Chip-seq |
20 |
Illumina HiSeq 2500 (Homo sapiens) |
|
C GSE69877
|
Chip-seq |
10 |
Illumina HiSeq 2000 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens) |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE147406 - INPP5E peak across samples
|
Peak Plot
|
> Dataset: GSE230758 - INPP5E peak across samples
|
Peak Plot
|
> Dataset: GSE69877 - INPP5E peak across samples
|
Peak Plot
|
|
|
MCV Target gene Detail Information
