GK (glycerol kinase)

2014-11-01  

Identity

HGNC
GK
LOCATION
Xp21.2
LOCUSID
2710
ALIAS
GK1,GKD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2710
MIM: 300474
HGNC: 4289
Ensembl: ENSG00000198814

Variants:

dbSNP: 2710
ClinVar: 2710
TCGA: ENSG00000198814
COSMIC: GK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198814ENST00000378938H7BYD2
ENSG00000198814ENST00000378941A6NP46
ENSG00000198814ENST00000378943P32189
ENSG00000198814ENST00000378945P32189
ENSG00000198814ENST00000378946P32189
ENSG00000198814ENST00000425166H7C2A0
ENSG00000198814ENST00000427190P32189
ENSG00000198814ENST00000471362F8WBI8
ENSG00000198814ENST00000479048F8WDA9
ENSG00000198814ENST00000481024F8WC39
ENSG00000198814ENST00000487652F8WF44
ENSG00000198814ENST00000488296H7C5F6

Expression (GTEx)

0
5
10
15
20
25
30
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
Glycerolipid metabolismKEGGko00561
PPAR signaling pathwayKEGGko03320
Glycerolipid metabolismKEGGhsa00561
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Triglyceride BiosynthesisREACTOMER-HSA-75109

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
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
158453842005Human and murine glycerol kinase: influence of exon 18 alternative splicing on function.9
126360492003Glycerol metabolism and the determination of triglycerides--clinical, biochemical and molecular findings in six subjects.4
146543542003Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation.2
201102162010The diagnostic difficulties of complex glycerol kinase deficiency.2
165495352006Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA.1
270870232016Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.0

Citation

Dessen P

GK (glycerol kinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63804/gk