ENSG00000100889


Homo sapiens

Features
Gene ID: ENSG00000100889
  
Biological name :PCK2
  
Synonyms : PCK2 / phosphoenolpyruvate carboxykinase 2, mitochondrial / Q16822
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q11.2
Gene start: 24094053
Gene end: 24110598
  
Corresponding Affymetrix probe sets: 202847_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000453998
Ensembl peptide - ENSP00000453791
Ensembl peptide - ENSP00000454011
Ensembl peptide - ENSP00000454020
Ensembl peptide - ENSP00000216780
Ensembl peptide - ENSP00000380171
Ensembl peptide - ENSP00000441826
Ensembl peptide - ENSP00000452748
Ensembl peptide - ENSP00000453444
Ensembl peptide - ENSP00000453528
Ensembl peptide - ENSP00000453656
Ensembl peptide - ENSP00000453751
NCBI entrez gene - 5106     See in Manteia.
OMIM - 614095
RefSeq - XM_006720158
RefSeq - NM_001018073
RefSeq - NM_001291556
RefSeq - NM_001308054
RefSeq - NM_004563
RefSeq Peptide - NP_001294983
RefSeq Peptide - NP_004554
RefSeq Peptide - NP_001018083
RefSeq Peptide - NP_001278485
swissprot - H0YNH9
swissprot - Q16822
swissprot - A0A0A0MS74
swissprot - B4DW73
swissprot - H0YKC4
swissprot - H0YM31
swissprot - H0YML5
swissprot - H0YMA5
swissprot - H0YMU6
swissprot - H0YMY3
swissprot - H0YNG4
Ensembl - ENSG00000100889
  
Related genetic diseases (OMIM): 261650 - PEPCK deficiency, mitochondrial, 261650
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)
Ortholog nameID Species
 Pck2ENSMUSG00000040618Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PCK1 / P35558 / phosphoenolpyruvate carboxykinase 1ENSG0000012425368


Protein motifs (from Interpro)
Interpro ID Name
 IPR008209  Phosphoenolpyruvate carboxykinase, GTP-utilising
 IPR008210  Phosphoenolpyruvate carboxykinase, N-terminal
 IPR013035  Phosphoenolpyruvate carboxykinase, C-terminal
 IPR018091  Phosphoenolpyruvate carboxykinase, GTP-utilising, conserved site
 IPR035077  Phosphoenolpyruvate carboxykinase, GTP-utilising, C-terminal
 IPR035078  Phosphoenolpyruvate carboxykinase, GTP-utilising, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006090 pyruvate metabolic process IEA
 biological_processGO:0006094 gluconeogenesis IEA
 biological_processGO:0006107 oxaloacetate metabolic process IEA
 biological_processGO:0006116 NADH oxidation IEA
 biological_processGO:0032024 positive regulation of insulin secretion IEA
 biological_processGO:0032496 response to lipopolysaccharide IEA
 biological_processGO:0071333 cellular response to glucose stimulus IEA
 biological_processGO:0071356 cellular response to tumor necrosis factor IEA
 biological_processGO:0071548 response to dexamethasone IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005759 mitochondrial matrix TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0004611 phosphoenolpyruvate carboxykinase activity IEA
 molecular_functionGO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016831 carboxy-lyase activity IEA
 molecular_functionGO:0017076 purine nucleotide binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Gluconeogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000799 Fatty kidneys 
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 HP:0001397 Hepatic steatosis 
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 HP:0001399 Hepatic failure 
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 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
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 HP:0005959 Impaired gluconeogenesis 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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