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PCK2 (phosphoenolpyruvate carboxykinase 2, mitochondrial)

Identity

Alias_namesphosphoenolpyruvate carboxykinase 2 (mitochondrial)
Alias_symbol (synonym)PEPCK
PEPCK2
Other aliasPEPCK-M
HGNC (Hugo) PCK2
LocusID (NCBI) 5106
Atlas_Id 54985
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 24094131 and ends at 24100753 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PCK2   8725
Cards
Entrez_Gene (NCBI)PCK2  5106  phosphoenolpyruvate carboxykinase 2, mitochondrial
AliasesPEPCK; PEPCK-M; PEPCK2
GeneCards (Weizmann)PCK2
Ensembl hg19 (Hinxton)ENSG00000100889 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100889 [Gene_View]  chr14:24094131-24100753 [Contig_View]  PCK2 [Vega]
ICGC DataPortalENSG00000100889
TCGA cBioPortalPCK2
AceView (NCBI)PCK2
Genatlas (Paris)PCK2
WikiGenes5106
SOURCE (Princeton)PCK2
Genetics Home Reference (NIH)PCK2
Genomic and cartography
GoldenPath hg38 (UCSC)PCK2  -     chr14:24094131-24100753 +  14q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCK2  -     14q11.2   [Description]    (hg19-Feb_2009)
EnsemblPCK2 - 14q11.2 [CytoView hg19]  PCK2 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIPCK2 [Mapview hg19]  PCK2 [Mapview hg38]
OMIM261650   614095   
Gene and transcription
Genbank (Entrez)AK129934 AK301400 AK307913 AK311710 AK316206
RefSeq transcript (Entrez)NM_001018073 NM_001291556 NM_001308054 NM_004563
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCK2
Cluster EST : UnigeneHs.75812 [ NCBI ]
CGAP (NCI)Hs.75812
Alternative Splicing GalleryENSG00000100889
Gene ExpressionPCK2 [ NCBI-GEO ]   PCK2 [ EBI - ARRAY_EXPRESS ]   PCK2 [ SEEK ]   PCK2 [ MEM ]
Gene Expression Viewer (FireBrowse)PCK2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5106
GTEX Portal (Tissue expression)PCK2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16822   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16822  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16822
Splice isoforms : SwissVarQ16822
Catalytic activity : Enzyme4.1.1.32 [ Enzyme-Expasy ]   4.1.1.324.1.1.32 [ IntEnz-EBI ]   4.1.1.32 [ BRENDA ]   4.1.1.32 [ KEGG ]   
PhosPhoSitePlusQ16822
Domaine pattern : Prosite (Expaxy)PEPCK_GTP (PS00505)   
Domains : Interpro (EBI)PEP_carboxykin_GTP_CS    PEP_carboxykinase_C    PEP_carboxykinase_GTP    PEP_carboxykinase_N   
Domain families : Pfam (Sanger)PEPCK (PF00821)   
Domain families : Pfam (NCBI)pfam00821   
Conserved Domain (NCBI)PCK2
DMDM Disease mutations5106
Blocks (Seattle)PCK2
SuperfamilyQ16822
Human Protein AtlasENSG00000100889
Peptide AtlasQ16822
HPRD02026
IPIIPI00797038   IPI00384116   IPI01012403   
Protein Interaction databases
DIP (DOE-UCLA)Q16822
IntAct (EBI)Q16822
FunCoupENSG00000100889
BioGRIDPCK2
STRING (EMBL)PCK2
ZODIACPCK2
Ontologies - Pathways
QuickGOQ16822
Ontology : AmiGOphosphoenolpyruvate carboxykinase activity  phosphoenolpyruvate carboxykinase (GTP) activity  protein binding  GTP binding  mitochondrion  mitochondrial matrix  pyruvate metabolic process  gluconeogenesis  gluconeogenesis  oxaloacetate metabolic process  NADH oxidation  positive regulation of insulin secretion  response to lipopolysaccharide  metal ion binding  extracellular exosome  cellular response to glucose stimulus  cellular response to tumor necrosis factor  response to dexamethasone  
Ontology : EGO-EBIphosphoenolpyruvate carboxykinase activity  phosphoenolpyruvate carboxykinase (GTP) activity  protein binding  GTP binding  mitochondrion  mitochondrial matrix  pyruvate metabolic process  gluconeogenesis  gluconeogenesis  oxaloacetate metabolic process  NADH oxidation  positive regulation of insulin secretion  response to lipopolysaccharide  metal ion binding  extracellular exosome  cellular response to glucose stimulus  cellular response to tumor necrosis factor  response to dexamethasone  
Pathways : KEGG   
NDEx NetworkPCK2
Atlas of Cancer Signalling NetworkPCK2
Wikipedia pathwaysPCK2
Orthology - Evolution
OrthoDB5106
GeneTree (enSembl)ENSG00000100889
Phylogenetic Trees/Animal Genes : TreeFamPCK2
HOVERGENQ16822
HOGENOMQ16822
Homologs : HomoloGenePCK2
Homology/Alignments : Family Browser (UCSC)PCK2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCK2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCK2
dbVarPCK2
ClinVarPCK2
1000_GenomesPCK2 
Exome Variant ServerPCK2
ExAC (Exome Aggregation Consortium)PCK2 (select the gene name)
Genetic variants : HAPMAP5106
Genomic Variants (DGV)PCK2 [DGVbeta]
DECIPHERPCK2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCK2 
Mutations
ICGC Data PortalPCK2 
TCGA Data PortalPCK2 
Broad Tumor PortalPCK2
OASIS PortalPCK2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCK2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCK2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch PCK2
DgiDB (Drug Gene Interaction Database)PCK2
DoCM (Curated mutations)PCK2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCK2 (select a term)
intoGenPCK2
Cancer3DPCK2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM261650    614095   
Orphanet3374   
MedgenPCK2
Genetic Testing Registry PCK2
NextProtQ16822 [Medical]
TSGene5106
GENETestsPCK2
Huge Navigator PCK2 [HugePedia]
snp3D : Map Gene to Disease5106
BioCentury BCIQPCK2
ClinGenPCK2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5106
Chemical/Pharm GKB GenePA33070
Clinical trialPCK2
Miscellaneous
canSAR (ICR)PCK2 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCK2
EVEXPCK2
GoPubMedPCK2
iHOPPCK2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:30:31 CEST 2017

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