SHPK (sedoheptulokinase)

2014-11-01  

Identity

HGNC
LOCATION
17p13.2
LOCUSID
ALIAS
CARKL,SHK
FUSION GENES

Other Information

Locus ID:

NCBI: 23729
MIM: 605060
HGNC: 1492
Ensembl: ENSG00000197417

Variants:

dbSNP: 23729
ClinVar: 23729
TCGA: ENSG00000197417
COSMIC: SHPK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197417ENST00000225519Q9UHJ6

Expression (GTEx)

0
5
10
15
20
25

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
226822222012The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism.169
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
181865202008Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.16
196798472009Multi-ethnic genetic association study of carotid intima-media thickness using a targeted cardiovascular SNP microarray.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

SHPK (sedoheptulokinase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73233/shpk