Identity
HGNC
LOCATION
8p11.21
LOCUSID
ALIAS
MDDGA12,MDDGC12,SGK196
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84197
MIM: 615247
HGNC: 26267
Ensembl: ENSG00000185900
Variants:
dbSNP: 84197
ClinVar: 84197
TCGA: ENSG00000185900
COSMIC: POMK
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185900 | ENST00000331373 | Q9H5K3 |
| ENSG00000185900 | ENST00000518991 | E5RJD5 |
| ENSG00000185900 | ENST00000614426 | Q9H5K3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31833209 | 2020 | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. | 4 |
| 32707033 | 2020 | Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. | 43 |
| 31833209 | 2020 | Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families. | 4 |
| 32707033 | 2020 | Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases. | 43 |
| 24556084 | 2014 | POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. | 22 |
| 24925318 | 2014 | POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. | 31 |
| 24556084 | 2014 | POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability. | 22 |
| 24925318 | 2014 | POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. | 31 |
| 23929950 | 2013 | SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. | 109 |
| 23929950 | 2013 | SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function. | 109 |
Citation
Dessen P
POMK (protein O-mannose kinase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72072/pomk-(protein-o-mannose-kinase)
