1. Gene
  2. DGKE - diacylglycerol kinase epsilon Gene

DGKE - diacylglycerol kinase epsilon Gene

Homo sapiens

Also known as DGK; AHUS7; DAGK5; DAGK6; NPHS7

Gene ID: 8526 | Gene type: protein coding

About DGKE

Cytogenetic location: 17q22 Genomic coordinates (GRCh38): 17:56,834,151-56,869,567 (from NCBI)

This gene has 6 transcripts (splice variants), 212 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.8), spleen (RPKM 3.2) and 25 other tissues.

Summary

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. [provided by RefSeq, Jul 2008]

DGKE Products(1)

mRNA Protein Name
NM_003647.3 NP_003638.1 diacylglycerol kinase epsilon

DGKE Protein Structure

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (60 - 109)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (125 - 177)

DAGK_cat

DAGK_cat: Diacylglycerol kinase catalytic domain (220 - 350)

DAGK_acc

DAGK_acc: Diacylglycerol kinase accessory domain (369 - 524)

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  • 567 a.a.
Protein Preferred Names Protein Names

diacylglycerol kinase epsilon

DAG kinase epsilon

Related Diseases

Diseases Alias
Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome

Haemolytic-Uraemic Syndrome

Hus

Acute Renal Failure, Thrombocytopenia, And Microangiopathic Hemolytic Anemia Associated With Distorted Erythrocytes

Typical Haemolytic Uraemic Syndrome

Gasser Syndrome

Hus - [Haemolytic Uraemic Syndrome]

D-Minus Hemolytic Uremic Syndrome

Atypical Hus

Atypical Hemolytic Uremic Syndrome

Hus, Atypical

Ahus

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis

Dense Deposit Disease

Membranoproliferative Glomerulonephritis Type 2

Primary Membranoproliferative Glomerulonephritis

Mesangiocapillary Glomerulonephritis, Type Ii

Glomerulonephritis, Membranoproliferative

Chronic Glomerulonephritis, Lobular

Lobular Glomerulonephritis

Ddd

Glomerulonephritis Membranoproliferative Type 2

Mpgn 2

Membranoproliferative Glomerulonephritis Type Ii

Mesangiocapillary Glomerulonephritis Type 2

Mpgn

Primary Mpgn

Glomerulonephritis Membranoproliferative

Membranoproliferative Glomerulonephritis, Type Ii

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Complement Deficiency

Complement Deficiency Disease

Hereditary Complement Deficiency Diseases

End Stage Renal Disease

End Stage Renal Failure

End-Stage Kidney Disease

Kidney Failure, Chronic

Chronic Kidney Disease Stage 5

Methylmalonic Aciduria And Homocystinuria, Cblc Type

MAHCC

Vitamin B12 Metabolic Defect With Combined Deficiency Of Methylmalonyl-Coa Mutase And Homocysteine:Methyltetrahydrofolate Methyltransferase

Methylmalonic Aciduria And Homocystinuria, Cblc Type, Digenic

Methylmalonic Aciduria And Homocystinuria Type Cblc

Cobalamin C Disease

Methylmalonic Acidemia With Homocystinuria Cblc

Methylmalonic Acidemia And Homocystinuria, Cblc Type

Methylmalonic Aciduria And Homocystinuria, Vitamin B12-Responsive

Cobalamin C Deficiency

Methylmalonic Acidemia With Homocystinuria, Type Cblc

Cblc Defect

Cobalamin C Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblc

Methylmalonic Aciduria With Homocystinuria, Type Cblc

Methylmalonic Acidemia And Homocystinuria Cblc Type

Methylmalonic Aciduria And Homocystinuria Vitamin B12-Responsive

Aciduria, Methylmalonic, And Homocystinuria, Cblc Type

Methylmalonic Acidemia With Homocystinuria

Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations

MCPH2

Primary Autosomal Recessive Microcephaly 2 With Or Without Cortical Malformations

Microcephaly, Primary Autosomal Recessive, 2

Malignant Hypertension

Hypertension, Malignant

Hypertension Malignant

Exudative Glomerulonephritis
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Diabetes Insipidus, Nephrogenic, 2, Autosomal

Diabetes Insipidus, Nephrogenic, Autosomal

NDI2

Diabetes Insipidus, Nephrogenic, Type Ii

Diabetes Insipidus, Nephrogenic, 2

Nephrogenic Diabetes Insipidus Type 2

Autosomal Nephrogenic Diabetes Insipidus-2

Diabetes Insipidus, Nephrogenic Type 2

ANDI

Diabetes Insipidus Nephrogenic Type 2

Doid:0081061

Nephrogenic Diabetes Insipidus

Congenital Nephrogenic Diabetes Insipidus

Adh-Resistant Diabetes Insipidus

Thrombotic Thrombocytopenic Purpura

Purpura, Thrombotic Thrombocytopenic

Ttp

Thrombotic Thrombocytopenic Purpura, Acquired

Idiopathic Thrombotic Thrombocytopenic Purpura

Moschcowitz Disease

Moschcowitz'S Syndrome

Moschowitz Syndrome

Chronic Relapsing Thrombotic Thrombocytopenic Purpura

Familial Thrombotic Thrombocytopenia Purpura

Moschkowitz Disease

Purpura Thrombotic Thrombocytopenic

Familial Thrombotic Thrombocytopenic Purpura

Microangiopathic Hemolytic Anemia

Congenital Thrombotic Thrombocytopenic Purpura

Autoimmune Thrombotic Thrombocytopenic Purpura

Ttp - [Thrombotic Thrombocytopenic Purpura]

Moschcowitz Syndrome

Kanzaki Disease

Alpha-N-Acetylgalactosaminidase Deficiency Type 2

Naga Deficiency Type 2

Schindler Disease, Type Ii

Adult-Onset Alpha-N-Acetylgalactosaminidase Deficiency

Schindler Disease Type 2

Alpha-N-Acetylgalactosaminidase Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency, Adult-Onset

Naga Deficiency, Type Ii

Alpha-N-Acetylgalactosaminidase Deficiency Adult Onset

KANZD

Naga Deficiency Type Ii

Schindler Disease Type Ii

Methylmalonic Acidemia

Methylmalonic Aciduria

Mma

Acidemia, Methylmalonic

Isolated Methylmalonic Acidemia

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta DGKE VGNC VGNC:71784
Canis familiaris DGKE VGNC VGNC:39918
Rattus norvegicus DGKE RGD RGD:1560914
Felis catus DGKE VGNC VGNC:98906
Mus musculus DGKE MGD MGI:1889276
Bos taurus DGKE VGNC VGNC:28027
Others DGKE NCBI