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Aliases for PCK2 Gene

Aliases for PCK2 Gene

  • Phosphoenolpyruvate Carboxykinase 2, Mitochondrial 2 3
  • Phosphoenolpyruvate Carboxykinase 2 (Mitochondrial) 2 3 5
  • EC 4.1.1.32 4 63
  • PEPCK-M 3 4
  • PEPCK2 3 4
  • Phosphopyruvate Carboxylase 3
  • PEP Carboxykinase 3
  • PEPCK 3

External Ids for PCK2 Gene

Previous GeneCards Identifiers for PCK2 Gene

  • GC14P021935
  • GC14P018350
  • GC14P022553
  • GC14P023633
  • GC14P024563
  • GC14P004678

Summaries for PCK2 Gene

Entrez Gene Summary for PCK2 Gene

  • This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

GeneCards Summary for PCK2 Gene

PCK2 (Phosphoenolpyruvate Carboxykinase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with PCK2 include pepck 1 deficiency and pepck deficiency, mitochondrial. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include GTP binding and purine nucleotide binding. An important paralog of this gene is PCK1.

UniProtKB/Swiss-Prot for PCK2 Gene

  • Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCK2 Gene

Genomics for PCK2 Gene

Regulatory Elements for PCK2 Gene

Promoters for PCK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCK2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCK2 Gene

Chromosome:
14
Start:
24,094,053 bp from pter
End:
24,110,598 bp from pter
Size:
16,546 bases
Orientation:
Plus strand

Genomic View for PCK2 Gene

Genes around PCK2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCK2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCK2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCK2 Gene

Proteins for PCK2 Gene

  • Protein details for PCK2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16822-PCKGM_HUMAN
    Recommended name:
    Phosphoenolpyruvate carboxykinase [GTP], mitochondrial
    Protein Accession:
    Q16822
    Secondary Accessions:
    • O43253
    • Q86U01
    • Q9BV62

    Protein attributes for PCK2 Gene

    Size:
    640 amino acids
    Molecular mass:
    70730 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
    SequenceCaution:
    • Sequence=CAD62600.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCK2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCK2 Gene

Proteomics data for PCK2 Gene at MOPED

Post-translational modifications for PCK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PCK2 (PCK2)

Domains & Families for PCK2 Gene

Graphical View of Domain Structure for InterPro Entry

Q16822

UniProtKB/Swiss-Prot:

PCKGM_HUMAN :
  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
Family:
  • Belongs to the phosphoenolpyruvate carboxykinase [GTP] family.
genes like me logo Genes that share domains with PCK2: view

No data available for Gene Families for PCK2 Gene

Function for PCK2 Gene

Molecular function for PCK2 Gene

GENATLAS Biochemistry:
phosphoenolpyruvate carboxylase 2,mitochondrial,mainly expressed in liver,kidney,pancreas,intestine fibroblasts
UniProtKB/Swiss-Prot CatalyticActivity:
GTP + oxaloacetate = GDP + phosphoenolpyruvate + CO(2).
UniProtKB/Swiss-Prot Function:
Catalyzes the conversion of oxaloacetate (OAA) to phosphoenolpyruvate (PEP), the rate-limiting step in the metabolic pathway that produces glucose from lactate and other precursors derived from the citric acid cycle.

Enzyme Numbers (IUBMB) for PCK2 Gene

Gene Ontology (GO) - Molecular Function for PCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004611 phosphoenolpyruvate carboxykinase activity TAS 8645161
GO:0005515 protein binding IPI 21988832
GO:0005525 GTP binding IEA --
GO:0016301 kinase activity IEA --
GO:0017076 purine nucleotide binding IEA --
genes like me logo Genes that share ontologies with PCK2: view
genes like me logo Genes that share phenotypes with PCK2: view

Human Phenotype Ontology for PCK2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for PCK2 Gene

miRTarBase miRNAs that target PCK2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PCK2 Gene

Localization for PCK2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCK2 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCK2 Gene COMPARTMENTS Subcellular localization image for PCK2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 3
chloroplast 2
nucleus 2
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for PCK2 Gene

Pathways & Interactions for PCK2 Gene

genes like me logo Genes that share pathways with PCK2: view

UniProtKB/Swiss-Prot Q16822-PCKGM_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Interacting Proteins for PCK2 Gene

Gene Ontology (GO) - Biological Process for PCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006006 glucose metabolic process TAS --
GO:0006094 gluconeogenesis IEA,TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with PCK2: view

No data available for SIGNOR curated interactions for PCK2 Gene

Drugs & Compounds for PCK2 Gene

(39) Drugs for PCK2 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
phosphoenolpyruvate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
Manganese Pharma 32

(35) Additional Compounds for PCK2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
carbon dioxide
  • Carbon oxide
  • Carbon-12 dioxide
  • Carbonic acid anhydride
  • Carbonic acid gas
  • Carbonic anhydride
124-38-9
IDP
  • 5'-IDP
  • IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
86-04-4
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • 5'-ITP
  • 5-ITP
  • Inosine 5
  • Inosine 5'-(tetrahydrogen triphosphate)
132-06-9
Oxalacetic acid
  • 2-Ketosuccinate
  • 2-Ketosuccinic acid
  • 2-Oxobutanedioate
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinate
328-42-7
genes like me logo Genes that share compounds with PCK2: view

Transcripts for PCK2 Gene

Unigene Clusters for PCK2 Gene

Phosphoenolpyruvate carboxykinase 2 (mitochondrial):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCK2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12
SP1: - - - - -
SP2: - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8: -

Relevant External Links for PCK2 Gene

GeneLoc Exon Structure for
PCK2
ECgene alternative splicing isoforms for
PCK2

Expression for PCK2 Gene

mRNA expression in normal human tissues for PCK2 Gene

mRNA differential expression in normal tissues according to GTEx for PCK2 Gene

This gene is overexpressed in Liver (x13.9) and Small Intestine - Terminal Ileum (x5.1).

Protein differential expression in normal tissues from HIPED for PCK2 Gene

This gene is overexpressed in Liver, secretome (28.4), Liver (12.6), and Kidney (9.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCK2 Gene



SOURCE GeneReport for Unigene cluster for PCK2 Gene Hs.75812

genes like me logo Genes that share expression patterns with PCK2: view

Protein tissue co-expression partners for PCK2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PCK2 Gene

Orthologs for PCK2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCK2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCK2 36
  • 99 (a)
OneToOne
PCK2 35
  • 99.32 (n)
  • 98.91 (a)
cow
(Bos Taurus)
Mammalia PCK2 35
  • 91.15 (n)
  • 94.53 (a)
PCK2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCK2 36
  • 84 (a)
OneToOne
PCK2 35
  • 90.99 (n)
  • 93.59 (a)
mouse
(Mus musculus)
Mammalia Pck2 36
  • 88 (a)
OneToOne
Pck2 16
Pck2 35
  • 88.7 (n)
  • 92.03 (a)
oppossum
(Monodelphis domestica)
Mammalia PCK2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCK2 36
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pck2 35
  • 88.75 (n)
  • 92.03 (a)
chicken
(Gallus gallus)
Aves PCK2 35
  • 65.96 (n)
  • 69.46 (a)
-- 36
  • 74 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PCK2 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC394790 35
pck2 35
  • 69.7 (n)
  • 77.32 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1063 35
zebrafish
(Danio rerio)
Actinopterygii pck2 36
  • 66 (a)
OneToOne
pck2 35
  • 66.28 (n)
  • 70.02 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003350 35
  • 64.42 (n)
  • 66.78 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG10924 36
  • 63 (a)
ManyToMany
Pepck 36
  • 61 (a)
ManyToMany
Pepck 35
  • 62.96 (n)
  • 64.32 (a)
CG10924 37
  • 65 (a)
Pepck 37
  • 63 (a)
worm
(Caenorhabditis elegans)
Secernentea pck-2 35
  • 57.07 (n)
  • 59.21 (a)
pck-1 36
  • 54 (a)
ManyToMany
pck-2 36
  • 55 (a)
ManyToMany
pck-3 36
  • 24 (a)
ManyToMany
R11A5.4 37
  • 58 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 36
  • 65 (a)
OneToMany
Species with no ortholog for PCK2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PCK2 Gene

ENSEMBL:
Gene Tree for PCK2 (if available)
TreeFam:
Gene Tree for PCK2 (if available)

Paralogs for PCK2 Gene

Paralogs for PCK2 Gene

genes like me logo Genes that share paralogs with PCK2: view

Variants for PCK2 Gene

Sequence variations from dbSNP and Humsavar for PCK2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_042445 -
VAR_042446 -
VAR_042447 -
VAR_056662 -

Structural Variations from Database of Genomic Variants (DGV) for PCK2 Gene

Variant ID Type Subtype PubMed ID
esv988353 CNV Deletion 20482838
nsv819606 CNV Loss 19587683

Variation tolerance for PCK2 Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.63; 72.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCK2 Gene

HapMap Linkage Disequilibrium report
PCK2
Human Gene Mutation Database (HGMD)
PCK2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCK2 Gene

Disorders for PCK2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PCK2 Gene - From: OMIM, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pepck 1 deficiency
  • pep carboxykinase deficiency
pepck deficiency, mitochondrial
  • mitochondrial phosphoenolpyruvate carboxykinase deficiency
reticulate acropigmentation of kitamura
  • rapk
acute urate nephropathy
  • uric acid nephrolithiasis
hyperglycemia
- elite association - COSMIC cancer census association via MalaCards
Search PCK2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCKGM_HUMAN
  • Mitochondrial phosphoenolpyruvate carboxykinase deficiency (M-PEPCKD) [MIM:261650]: Metabolic disorder resulting from impaired gluconeogenesis. It is a rare disease with less than 10 cases reported in the literature. Clinical characteristics include hypotonia, hepatomegaly, failure to thrive, lactic acidosis and hypoglycemia. Autopsy reveals fatty infiltration of both the liver and kidneys. The disorder is transmitted as an autosomal recessive trait. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCK2

Genetic Association Database (GAD)
PCK2
Human Genome Epidemiology (HuGE) Navigator
PCK2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCK2
genes like me logo Genes that share disorders with PCK2: view

No data available for Genatlas for PCK2 Gene

Publications for PCK2 Gene

  1. Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. Structure, chromosomal localization and tissue-specific expression. (PMID: 9657976) Modaressi S. … Jungermann K. (Biochem. J. 1998) 2 3 4 23 67
  2. Endurance capacity, not body size, determines physical activity levels: role of skeletal muscle PEPCK. (PMID: 19521512) Novak C.M. … Levine J.A. (PLoS ONE 2009) 3 23
  3. Fasting hyperglycemia is not associated with increased expression of PEPCK or G6Pc in patients with Type 2 Diabetes. (PMID: 19587243) Samuel V.T. … Shulman G.I. (Proc. Natl. Acad. Sci. U.S.A. 2009) 3 23
  4. AMP-activated protein kinase regulates PEPCK gene expression by direct phosphorylation of a novel zinc finger transcription factor. (PMID: 17097062) Inoue E. … Yamauchi J. (Biochem. Biophys. Res. Commun. 2006) 3 23
  5. Cloning and reporter analysis of human mitochondrial phosphoenolpyruvate carboxykinase gene promoter. (PMID: 15315819) Suzuki M. … Kono N. (Gene 2004) 3 23

Products for PCK2 Gene

Sources for PCK2 Gene

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