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    PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 5106, updated on 8-Jul-2021

    Summary

    Official Symbol
    PCK2provided by HGNC
    Official Full Name
    phosphoenolpyruvate carboxykinase 2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:8725
    See related
    Ensembl:ENSG00000100889 MIM:614095
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PEPCK; PEPCK2; PEPCK-M
    Summary
    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]
    Expression
    Biased expression in duodenum (RPKM 127.7), small intestine (RPKM 91.2) and 8 other tissues See more
    Orthologs
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    Genomic context

    See PCK2 in Genome Data Viewer
    Location:
    14q11.2-q12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24094311..24104125)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24563520..24573334)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene capping protein regulator and myosin 1 linker 3 Neighboring gene uncharacterized LOC105370412 Neighboring gene copine 6 Neighboring gene neural retina leucine zipper Neighboring gene DDB1 and CUL4 associated factor 11 Neighboring gene fat storage inducing transmembrane protein 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA increases PCK2 mRNA expression in HepG2 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables manganese ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphoenolpyruvate carboxykinase (GTP) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphoenolpyruvate carboxykinase (GTP) activity TAS
    Traceable Author Statement
    more info
     
    enables phosphoenolpyruvate carboxykinase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in NADH oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to dexamethasone stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to insulin stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in gluconeogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gluconeogenesis TAS
    Traceable Author Statement
    more info
     
    involved_in glycerol biosynthetic process from pyruvate IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in hepatocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in oxaloacetate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in propionate catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to lipid IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to starvation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
     
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    phosphoenolpyruvate carboxykinase [GTP], mitochondrial
    Names
    PEP carboxykinase
    epididymis secretory sperm binding protein
    phosphopyruvate carboxylase
    NP_001018083.2
    NP_001278485.1
    NP_001294983.1
    NP_004554.3
    XP_006720221.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008162.2 RefSeqGene

      Range
      5038..14852
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018073.3NP_001018083.2  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 3' coding exons and its 3' terminal exon extends past a splice site used in the variant 1, resulting in a different 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AL136295, BX248272, CN359636, DB028389, KF455834
      Consensus CDS
      CCDS41928.1
      UniProtKB/Swiss-Prot
      Q16822
      UniProtKB/TrEMBL
      A0A0A0MS74
      Related
      ENSP00000380171.4, ENST00000396973.8
      Conserved Domains (1) summary
      cl22860
      Location:44412
      PEPCK_HprK; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...
    2. NM_001291556.2NP_001278485.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001278485.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate exon and lacks an exon in the 5' region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AK129934, AK316206, DB028389
      Consensus CDS
      CCDS76660.1
      UniProtKB/TrEMBL
      B4DW73
      Related
      ENSP00000454011.1, ENST00000561286.5
      Conserved Domains (1) summary
      cd00819
      Location:1499
      PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...
    3. NM_001308054.2NP_001294983.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 3

      See identical proteins and their annotated locations for NP_001294983.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and uses an alternate 5'-terminal exon, which results in use of a downstream in-frame start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus than isoform 1. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AK301400, BQ957219, BU153045, CA444720, DA645036
      Consensus CDS
      CCDS76660.1
      UniProtKB/TrEMBL
      B4DW73
      Related
      ENSP00000441826.2, ENST00000545054.6
      Conserved Domains (1) summary
      cd00819
      Location:1499
      PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...
    4. NM_004563.4NP_004554.3  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_004554.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK129934, DB028389
      Consensus CDS
      CCDS9609.1
      UniProtKB/Swiss-Prot
      Q16822
      Related
      ENSP00000216780.4, ENST00000216780.9
      Conserved Domains (1) summary
      cd00819
      Location:44633
      PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

      Range
      24094311..24104125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720158.3XP_006720221.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

      Related
      ENSP00000453444.1, ENST00000559250.5
      Conserved Domains (1) summary
      cd00819
      Location:44490
      PEPCK_GTP; Phosphoenolpyruvate carboxykinase (PEPCK), a critical gluconeogenic enzyme, catalyzes the first committed step in the diversion of tricarboxylic acid cycle intermediates toward gluconeogenesis. It catalyzes the reversible decarboxylation and ...

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_018654722.1 Reference GRCh38.p13 PATCHES

      Range
      395289..405103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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