Gene Information
|
Gene Name
|
POMK |
|
Gene ID
|
84197
|
|
Gene Full Name
|
protein O-mannose kinase |
|
Gene Alias
|
MDDGA12|MDDGC12|SGK196 |
|
Transcripts
|
ENSG00000185900
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
|
|
Membrane Info
|
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins |
|
Uniport_ID
|
Q9H5K3
|
|
HGNC ID
|
HGNC:26267
|
|
OMIM ID
|
615247 |
|
Summary
|
This gene encodes a protein that may be involved in the presentation of the laminin-binding O-linked carbohydrate chain of alpha-dystroglycan (a-DG), which forms transmembrane linkages between the extracellular matrix and the exoskeleton. Some pathogens use this O-linked carbohydrate unit for host entry. Loss of function compound heterozygous mutations in this gene were found in a human patient affected by the Walker-Warburg syndrome (WWS) phenotype. Mice lacking this gene contain misplaced neurons (heterotopia) in some regions of the brain, possibly from defects in neuronal migration. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013] |
Target gene [POMK] 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 |
| 6001674 |
chr8 |
38 |
241 |
91 |
370 |
View |
| 6003047 |
chr8 |
184 |
2 |
1 |
187 |
View |
Target gene [POMK] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - POMK peak across samples
|
Peak Plot
|
|
|