POMK (protein O-mannose kinase)

2014-11-01  

Identity

HGNC
POMK
LOCATION
8p11.21
LOCUSID
84197
ALIAS
MDDGA12,MDDGC12,SGK196
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84197
MIM: 615247
HGNC: 26267
Ensembl: ENSG00000185900

Variants:

dbSNP: 84197
ClinVar: 84197
TCGA: ENSG00000185900
COSMIC: POMK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185900ENST00000331373Q9H5K3
ENSG00000185900ENST00000518991E5RJD5
ENSG00000185900ENST00000614426Q9H5K3

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
318332092020Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.4
327070332020Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.43
318332092020Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families.4
327070332020Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases.43
245560842014POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.22
249253182014POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.31
245560842014POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.22
249253182014POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.31
239299502013SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.109
239299502013SGK196 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