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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 56
  • 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 Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial. Among its related pathways are Glycosaminoglycan metabolism and DNA Damage Response (only ATM dependent). 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I024091 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.4 -406 6.5 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 ZNF548 SP3 PCK2 RNA5SP383 NGDN ACIN1 NYNRIN NFATC4 KHNYN IPO4 SLC7A8 TINF2
GH14I024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.1 +20.8 20787 3.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 ZNF143 SP3 DCAF11 NRL RNF31 NFATC4 IPO4 HOMEZ RNA5SP383 TSSK4 TM9SF1 KHNYN
GH14I024058 Enhancer 0.9 ENCODE 21.7 -35.6 -35586 0.2 ARID4B SIN3A ZNF48 SLC30A9 ARID2 ZNF207 ZNF143 DEK PAF1 NCOA1 PCK2 NRL PSME2 RNF31 CARMIL3 LOC105370412
GH14I024035 Promoter/Enhancer 1.5 Ensembl ENCODE 11.3 -57.5 -57456 1.7 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ZNF213 PIR58946 ACIN1 DHRS4L1 RNA5SP383 KHNYN TM9SF1 C14orf119 LOC102724814 DHRS4L2 RNF31
GH14I024032 Enhancer 1.1 Ensembl ENCODE 10.9 -60.7 -60718 1 PKNOX1 FOXA2 MLX ARID4B SIN3A TCF12 FOS RXRA REST KAT8 DHRS4L2 DHRS4 PCK2 NRL PIR58946 DHRS4L1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCK2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCK2 gene promoter:

Genomic Locations for PCK2 Gene

Genomic Locations for PCK2 Gene
chr14:24,094,053-24,110,598
(GRCh38/hg38)
Size:
16,546 bases
Orientation:
Plus strand
chr14:24,563,262-24,579,807
(GRCh37/hg19)

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

Selected DME Specific Peptides for PCK2 Gene

Q16822:
  • FTNVAETSDGGVYWEGID
  • WPGFGEN
  • AHPNSRF
  • VQLTDSAYV
  • LTLLEQQG
  • KCLHSVG
  • VPLVYEA
  • FLWPGFG
  • FPSACGKTN
  • GWLAEHMLIL
  • FGVAPGT
  • GDDIAWM
  • IIFGGRR
  • YVVASMRIM
  • GSGYGGN
  • LRAINPE
  • LLGKKCFALR

Post-translational modifications for PCK2 Gene

No Post-translational modifications

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

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

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 TAS,IEA --
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

Clone Products

  • Addgene plasmids for PCK2

No data available for Phenotypes From GWAS Catalog , 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
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
extracellular 5
mitochondrion 5
cytosol 3
peroxisome 2
nucleus 2

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:0070062 extracellular exosome HDA,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

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 TAS,IEA --
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, Investigational, Vet_approved Pharma 0
Manganese Approved Nutra 37
phosphoenolpyruvate Experimental Pharma 0
Guanosine diphosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

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

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:

Clone Products

  • 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: -
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 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, 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

Evidence on tissue expression from TISSUES for PCK2 Gene

  • Liver(4.8)
  • Kidney(4.1)
  • 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
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • heart
Abdomen:
  • adrenal gland
  • kidney
  • liver
General:
  • 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
chimpanzee
(Pan troglodytes)
Mammalia PCK2 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia PCK2 33 34
  • 91.15 (n)
dog
(Canis familiaris)
Mammalia PCK2 33 34
  • 90.99 (n)
rat
(Rattus norvegicus)
Mammalia Pck2 33
  • 88.75 (n)
mouse
(Mus musculus)
Mammalia Pck2 33 16 34
  • 88.7 (n)
oppossum
(Monodelphis domestica)
Mammalia PCK2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCK2 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 74 (a)
ManyToMany
PCK2 33
  • 65.96 (n)
lizard
(Anolis carolinensis)
Reptilia PCK2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pck2 33
  • 69.7 (n)
LOC394790 33
zebrafish
(Danio rerio)
Actinopterygii pck2 33 34
  • 66.28 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1063 33
fruit fly
(Drosophila melanogaster)
Insecta CG10924 35 34
  • 65 (a)
Pepck 35 33 34
  • 62.96 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003350 33
  • 64.42 (n)
worm
(Caenorhabditis elegans)
Secernentea R11A5.4 35
  • 58 (a)
pck-2 33 34
  • 57.07 (n)
pck-1 34
  • 54 (a)
ManyToMany
pck-3 34
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10673 34
  • 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 Variation AA Info Type
rs61752842 likely-pathogenic, uncertain-significance, not provided, not specified 24,096,930(+) C/G/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs141383988 uncertain-significance, not specified 24,103,192(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs142415107 uncertain-significance, not specified 24,098,237(+) C/A/T 5_prime_UTR_variant, coding_sequence_variant, stop_gained, synonymous_variant
rs146890792 uncertain-significance, not specified 24,099,186(+) A/G coding_sequence_variant, missense_variant
rs376278710 uncertain-significance, not specified 24,103,509(+) G/A genic_downstream_transcript_variant, intron_variant, splice_acceptor_variant

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

Variant ID Type Subtype PubMed ID
nsv819606 CNV loss 19587683
nsv564057 CNV loss 21841781
esv988353 CNV deletion 20482838

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

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: 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

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.

Additional Disease Information for PCK2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 22 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 22 44 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 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for PCK2 Gene

  • Addgene plasmids for PCK2

Sources for PCK2 Gene

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