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Aliases for PCK2 Gene

Aliases for PCK2 Gene

  • Phosphoenolpyruvate Carboxykinase 2, Mitochondrial 2 3 5
  • Phosphoenolpyruvate Carboxykinase [GTP], Mitochondrial 3 4
  • EC 4 56
  • PEPCK-M 3 4
  • PEPCK2 3 4
  • Phosphoenolpyruvate Carboxykinase 2 (Mitochondrial) 2
  • Epididymis Secretory Sperm Binding Protein 3
  • 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 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial. Among its related pathways are Adipogenesis and Glucocorticoid receptor regulatory network. Gene Ontology (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.

Additional gene information for PCK2 Gene

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

Genomics for PCK2 Gene

GeneHancer (GH) Regulatory Elements for PCK2 Gene

Promoters and enhancers for PCK2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024091 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 600.7 -0.4 -406 6.5 MTA3 ZNF652 SP1 ELF3 CTCF MNT CBFA2T2 ZNF148 NKRF POLR2A PCK2 NGDN IPO4 NYNRIN NFATC4 RNA5SP383 RNF31 SLC7A8 ACIN1 KHNYN
GH14J024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 +20.9 20948 3.6 MTA3 ZNF652 SP1 ZFX CC2D1A ELF3 MNT CBFA2T2 NKRF POLR2A DCAF11 NRL RNF31 NFATC4 IPO4 HOMEZ TSSK4 TM9SF1 NGDN THTPA
GH14J024058 Enhancer 1.1 Ensembl ENCODE 21.7 -35.4 -35365 1 CC2D1A ELF3 CTCF PPARG SP5 RAD21 IKZF1 KAT8 ARID2 ZBTB8A PCK2 NRL RNF31 PSME2 LOC105370412 CARMIL3
GH14J024035 Promoter/Enhancer 1.6 Ensembl ENCODE 11.3 -57.4 -57352 2.2 ZNF652 ELF3 CTCF NKRF POLR2A ZNF121 CEBPG ZNF687 ZSCAN21 AHR PIR58946 ACIN1 DHRS4L1 RNA5SP383 KHNYN TM9SF1 C14orf119 LOC102724814 DHRS4L2 RNF31
GH14J024051 Promoter/Enhancer 1.5 Ensembl ENCODE 9.5 -42.0 -41952 2.2 ELF3 MNT ZNF687 AHR TFE3 SP7 PPARG SP5 MLLT1 IKZF1 CARMIL3 PCK2 DHRS4L1 LOC105370412 ENSG00000285467
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCK2 gene promoter:
  • C/EBPbeta
  • COUP
  • COUP-TF1
  • HNF-4alpha1

Genomic Locations for PCK2 Gene

Genomic Locations for PCK2 Gene
16,546 bases
Plus strand
16,546 bases
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:
    Recommended name:
    Phosphoenolpyruvate carboxykinase [GTP], mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B4DW73
    • O43253
    • Q86U01
    • Q9BV62

    Protein attributes for PCK2 Gene

    640 amino acids
    Molecular mass:
    70699 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Monomer.
    • In eukaryotes there are two isozymes: a cytoplasmic one and a mitochondrial one.
    • Sequence=CAD62600.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCK2 Gene


neXtProt entry for PCK2 Gene

Selected DME Specific Peptides for PCK2 Gene


Post-translational modifications for PCK2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PCK2 Gene

Gene Families for PCK2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for PCK2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ79105, highly similar to Phosphoenolpyruvate carboxykinase (GTP), mitochondrial (EC (B4DW73_HUMAN)
  • Phosphoenolpyruvate carboxylase (PCKGM_HUMAN)
  • PCK2 protein (Q6IB91_HUMAN)
  • Phosphoenolpyruvate carboxykinase (Q712L8_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for PCK2 Gene

Molecular function for PCK2 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + oxaloacetate = CO2 + GDP + phosphoenolpyruvate; Xref=Rhea:RHEA:10388, ChEBI:CHEBI:16452, ChEBI:CHEBI:16526, ChEBI:CHEBI:37565, ChEBI:CHEBI:58189, ChEBI:CHEBI:58702; EC=;.
GENATLAS Biochemistry:
phosphoenolpyruvate carboxylase 2,mitochondrial,mainly expressed in liver,kidney,pancreas,intestine fibroblasts

Enzyme Numbers (IUBMB) for PCK2 Gene

Phenotypes From GWAS Catalog 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,IEA 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

CRISPR Products

miRNA for PCK2 Gene

miRTarBase miRNAs that target PCK2

Clone Products

  • Applied Biological Materials (abm): Clones for PCK2 - Now 50% OFF >
  • * PCK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for 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


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCK2 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

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:0005829 cytosol IBA 21873635
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

UniProtKB/Swiss-Prot Q16822-PCKGM_HUMAN

  • Pathway: Carbohydrate biosynthesis; gluconeogenesis.

SIGNOR curated interactions for PCK2 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PCK2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006090 pyruvate metabolic process IBA 21873635
GO:0006094 gluconeogenesis IEA,TAS --
GO:0016310 phosphorylation IEA --
GO:0019543 propionate catabolic process IBA 21873635
GO:0032869 cellular response to insulin stimulus IBA 21873635
genes like me logo Genes that share ontologies with PCK2: view

Drugs & Compounds for PCK2 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carbon dioxide Approved, Investigational, Vet_approved Pharma 0
Manganese Approved Nutra 41
phosphoenolpyruvate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-IDP
  • Inosine 5'-(trihydrogen diphosphate)
  • Inosine 5'-(trihydrogen pyrophosphate)
  • Inosine 5'-diphosphate
  • Inosine 5'-pyrophosphate
inosine triphosphate
  • 2'-Inosine-5'-triphosphate
  • Inosine 5'-triphosphate
  • Inosine tripolyphosphate
  • O(5')-(Tetrahydroxytriphosphoryl)inosine
  • 2'-Inosine-5'-triphosphoric acid
Oxalacetic acid
  • 2-Oxobutanedioic acid
  • 2-Oxosuccinic acid
  • 3-Carboxy-3-oxopropanoic acid
  • keto-Succinic acid
  • Ketosuccinic acid
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:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for PCK2 - Now 50% OFF >
  • * PCK2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCK2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • Addgene plasmids for PCK2

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: -
SP8: -

Relevant External Links for PCK2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PCK2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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:


SOURCE GeneReport for Unigene cluster for PCK2 Gene:


Evidence on tissue expression from TISSUES for PCK2 Gene

  • Kidney(4.8)
  • Liver(4.8)
  • Nervous system(3.2)
  • Intestine(2.7)
  • Muscle(2.3)
  • Pancreas(2.1)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCK2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • heart
  • adrenal gland
  • kidney
  • liver
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with PCK2: view

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
(Pan troglodytes)
Mammalia PCK2 35 34
  • 99.32 (n)
(Bos Taurus)
Mammalia PCK2 35 34
  • 91.15 (n)
(Canis familiaris)
Mammalia PCK2 35 34
  • 90.99 (n)
(Rattus norvegicus)
Mammalia Pck2 34
  • 88.75 (n)
(Mus musculus)
Mammalia Pck2 17 35 34
  • 88.7 (n)
(Monodelphis domestica)
Mammalia PCK2 35
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia PCK2 35
  • 82 (a)
(Gallus gallus)
Aves -- 35
  • 74 (a)
PCK2 34
  • 65.96 (n)
(Anolis carolinensis)
Reptilia PCK2 35
  • 65 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pck2 34
  • 69.7 (n)
LOC394790 34
(Danio rerio)
Actinopterygii pck2 35 34
  • 66.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1063 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003350 34
  • 64.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10924 35 36
  • 63 (a)
Pepck 35 36 34
  • 62.96 (n)
(Caenorhabditis elegans)
Secernentea R11A5.4 36
  • 58 (a)
pck-2 35 34
  • 57.07 (n)
pck-1 35
  • 54 (a)
pck-3 35
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 35
  • 65 (a)
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

Gene Tree for PCK2 (if available)
Gene Tree for PCK2 (if available)
Evolutionary constrained regions (ECRs) for PCK2: view image

Paralogs for PCK2 Gene

Paralogs for PCK2 Gene

(4) SIMAP similar genes for PCK2 Gene using alignment to 11 proteins:

  • B4DW73_HUMAN
  • H0YM31_HUMAN
  • Q6IB91_HUMAN
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 Variation AA Info Type
rs10132601 likely-benign, not provided, - 24,097,052(+) G/A 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant
rs138881435 uncertain-significance, not specified, not provided 24,100,214(+) G/T coding_sequence_variant, missense_variant, splice_donor_variant
rs148019349 not-provided, Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 24,103,257(+) T/C genic_downstream_transcript_variant, splice_donor_variant
rs17101262 benign, not provided, - 24,100,195(+) G/A coding_sequence_variant, missense_variant
rs35618680 benign, not provided, - 24,103,603(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant

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)

Additional Variant Information for PCK2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PCK2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PCK2 Gene - From: HGMD, OMIM, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PCK2 in MalaCards View complete list of genes associated with diseases


  • 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.

Additional Disease Information for PCK2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The Biochemical journal 1998) 2 3 4 23 58
  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 (Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2003) 3 23 45 58
  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 (The Biochemical journal 1996) 2 3 4 58
  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 KA … Diabetes Prevention Program Research Group (Diabetes 2010) 3 45 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 58

Products for PCK2 Gene

Sources for PCK2 Gene

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