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Aliases for PCK2 Gene

Aliases for PCK2 Gene

  • Phosphoenolpyruvate Carboxykinase 2, Mitochondrial 2 3 5
  • EC 4.1.1.32 4 61
  • PEPCK-M 3 4
  • PEPCK2 3 4
  • Phosphoenolpyruvate Carboxykinase [GTP], Mitochondrial 3
  • Phosphoenolpyruvate Carboxykinase 2 (Mitochondrial) 2
  • 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 Citrate cycle (TCA cycle). 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

Enhancers for PCK2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F024058 1.4 Ensembl ENCODE 21.6 -35.6 -35553 0.6 ELF3 ARID4B ZNF48 RAD21 RARA SLC30A9 ZNF143 DEK MIXL1 THAP11 PCK2 NRL MIR7703 PSME2 RNF31 CARMIL3 LOC105370412
GH14F024060 0.4 ENCODE 11.6 -32.5 -32459 1.9 NR2F1 CEBPB ZNF384 CEBPG RAD21 NR2F2 YY1 GABPB1 CEBPA HNF4G PCK2 NRL CARMIL3 LOC105370412
GH14F024035 0.5 ENCODE 11.3 -57.5 -57457 1.7 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 SP3 SP5 DHRS4L1 LINC00596 RN7SKP205 LOC105370409 RNA5SP383 KHNYN C14orf119 LOC102724814 DHRS4L2 DHRS4
GH14F024038 0.2 Ensembl 11.3 -55.3 -55253 0.4 MAFK DHRS4L1 PCK2 NRL PIR58946 CARMIL3
GH14F024113 1.1 ENCODE 11.1 +20.8 20788 3.1 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 RNA5SP383 KHNYN HOMEZ LOC102724814 NFATC4 CIDEB EMC9 NOP9 PSME1 PCK2
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PCK2 on UCSC Golden Path with GeneCards custom track

Promoters for PCK2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000415469 747 2001 HDGF PKNOX1 ARNT MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1

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

Post-translational modifications for PCK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PCK2 (PCK2)
  • Abcam antibodies for 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 IEA,TAS 8645161
GO:0004613 phosphoenolpyruvate carboxykinase (GTP) activity IEA,TAS --
GO:0005515 protein binding IPI 21988832
GO:0005525 GTP binding IEA --
GO:0016301 kinase activity 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

Inhibitory RNA Products

Flow Cytometry Products

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

Gene Ontology (GO) - Cellular Components for PCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PCK2: view

Pathways & Interactions for PCK2 Gene

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

Pathways by source for PCK2 Gene

UniProtKB/Swiss-Prot Q16822-PCKGM_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

Gene Ontology (GO) - Biological Process for PCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process IEA --
GO:0006094 gluconeogenesis IEA,TAS --
GO:0006107 oxaloacetate metabolic process IEA --
GO:0006116 NADH oxidation IEA --
GO:0016310 phosphorylation IEA --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Vet_approved Pharma 0
Manganese Approved Nutra 34
phosphoenolpyruvate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Inhibitory RNA Products

Flow Cytometry Products

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, MaxQB, and MOPED for PCK2 Gene



Protein tissue co-expression partners for PCK2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCK2 Gene:

PCK2

SOURCE GeneReport for Unigene cluster for PCK2 Gene:

Hs.75812
genes like me logo Genes that share expression patterns with PCK2: view

Primer 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 34 35
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia PCK2 34 35
  • 91.15 (n)
dog
(Canis familiaris)
Mammalia PCK2 34 35
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Pck2 34
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Pck2 34 16 35
  • 88.7 (n)
oppossum
(Monodelphis domestica)
Mammalia PCK2 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCK2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 74 (a)
ManyToMany
PCK2 34
  • 65.96 (n)
lizard
(Anolis carolinensis)
Reptilia PCK2 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pck2 34
  • 69.7 (n)
LOC394790 34
zebrafish
(Danio rerio)
Actinopterygii pck2 34 35
  • 66.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1063 34
fruit fly
(Drosophila melanogaster)
Insecta CG10924 36 35
  • 65 (a)
Pepck 36 34 35
  • 62.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003350 34
  • 64.42 (n)
worm
(Caenorhabditis elegans)
Secernentea R11A5.4 36
  • 58 (a)
pck-2 34 35
  • 57.07 (n)
pck-1 35
  • 54 (a)
ManyToMany
pck-3 35
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 35
  • 65 (a)
OneToMany
Species where no ortholog for PCK2 was found in the sources mined by GeneCards:
  • 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
rs10132601 -- 24,097,052(+) TCTGT(A/G)ATGGA intron-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs1049854 -- 24,103,215(+) GGCAG(A/C/T)GCCAT intron-variant, reference, synonymous-codon, missense
rs111287614 -- 24,102,556(+) CTGGC(C/T)GCACC intron-variant
rs111490053 -- 24,103,507(+) CCCCC(A/C/G)AGGGA intron-variant
rs111723834 -- 24,103,723(+) CCGGC(A/G)GTTAG intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv988353 CNV deletion 20482838
nsv564057 CNV loss 21841781
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

Human Gene Mutation Database (HGMD)
PCK2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCK2

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

Disorders for PCK2 Gene

MalaCards: The human disease database

(5) 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
hyperglycemia
keratomalacia
  • night blindness
diabetes mellitus, noninsulin-dependent
  • diabetes, type 2
- 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 22 64
  2. Identification of a novel variant in the phosphoenolpyruvate carboxykinase gene promoter in Japanese patients with type 2 diabetes. (PMID: 12916001) Horikawa Y. … Matsuzawa Y. (Horm. Metab. Res. 2003) 3 22 46 64
  3. Molecular cloning, sequencing and expression of the cDNA of the mitochondrial form of phosphoenolpyruvate carboxykinase from human liver. (PMID: 8645161) Modaressi S. … Jungermann K. (Biochem. J. 1996) 2 3 4 64
  4. Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program. (PMID: 20682687) Jablonski K.A. … Florez J.C. (Diabetes 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for PCK2 Gene

Sources for PCK2 Gene

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