Diacylglycerol Kinase, Epsilon, 64-kD

Alternative Names

DGKE
DGK-Epsilon

Length

35,437 bases

No. of Exons

No. of isoforms

Protein Name

Diacylglycerol kinase epsilon

Molecular Mass

63927 Da

Amino Acid Count

567

Genomic Location

chr17:56,834,130-56,869,566

Gene Map Locus

17q22

Description

Diacylglycerol kinases are thought to be involved mainly in the regeneration of phosphatidylinositol (PI) from diacylglycerol in the PI-cycle during cell signal transduction. When expressed in mammalian cells, DGK-epsilon shows specificity for arachidonyl-containing diacylglycerol. DGK-epsilon is expressed predominantly in testis. [From RefSeq]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003647.2:c.325A>G	United Arab Emirates	NC_000017.11:g.56835120A>G		Likely Pathogenic	Nephrotic Syndrome, Type 7	NG_033888.1:g.6022A>G; NM_003647.2:c.325A>G; NP_003638.1:p.Lys109Glu
NM_003647.2:c.889-2A>G	Lebanon	NC_000017.11:g.56848694A>G	Pathogenic	Pathogenic	Nephrotic Syndrome, Type 7	NG_033888.1:g.19596A>G; NM_003647.2:c.889-2A>G	879255231	39580

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=dgke

Contributors

Sayeeda Hana: 15.08.2021

Edit History

Sayeeda Hana: 15.08.2021

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