ENSG00000153933
Homo sapiens | |
Features
| Gene ID: | ENSG00000153933 | | | | | Biological name : | DGKE | | | | | Synonyms : | DGKE / diacylglycerol kinase epsilon / P52429 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 17 | | Strand: | 1 | | Band: | q22 | | Gene start: | 56834099 | | Gene end: | 56869567 | | | | | Corresponding Affymetrix probe sets: | 1554621_at (Human Genome U133 Plus 2.0 Array) 1554623_x_at (Human Genome U133 Plus 2.0 Array) 207518_at (Human Genome U133 Plus 2.0 Array) 238457_at (Human Genome U133 Plus 2.0 Array) 238694_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000459958
Ensembl peptide - ENSP00000284061
Ensembl peptide - ENSP00000458493
Ensembl peptide - ENSP00000459295
NCBI entrez gene - 8526
See in Manteia.
OMIM - 601440
RefSeq - XM_017025245
RefSeq - XM_011525394
RefSeq - XM_011525395
RefSeq - XM_011525396
RefSeq - XM_017025243
RefSeq - XM_017025244
RefSeq - NM_003647
RefSeq Peptide - NP_003638
swissprot - I3L112
swissprot - I3L2V2
swissprot - A1L4Q0
swissprot - P52429
Ensembl - ENSG00000153933
| | | | | Related genetic diseases (OMIM): | 615008 - Nephrotic syndrome, type 7, 615008 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR000756 | Diacylglycerol kinase, accessory domain | | IPR001206 | Diacylglycerol kinase, catalytic domain | | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | | IPR016064 | NAD kinase/diacylglycerol kinase-like domain superfamily | | IPR017438 | Inorganic polyphosphate/ATP-NAD kinase, N-terminal |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000093 | Proteinuria | |
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| | HP:0000100 | Nephrotic syndrome | |
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| | HP:0001873 | Thrombocytopenia | |
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| | HP:0001878 | Hemolytic anemia | |
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| | HP:0001919 | Acute renal failure | |
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| | HP:0003676 | Progressive disorder | |
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| | HP:0003774 | End stage renal disease | |
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| | HP:0004722 | Thickening of the glomerular basement membrane on renal biopsy | |
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| | HP:0005575 | Hemolytic-uremic syndrome | |
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Interacting proteins (from Reactome)
No match
0 s.
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