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

Gene ID: 5106, updated on 4-Oct-2020

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

Genomic context

See PCK2 in Genome Data Viewer
Location:
14q11.2-q12
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (24094311..24104125)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24563347..24573339)

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
GTP binding IEA
Inferred from Electronic Annotation
more info
 
manganese ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoenolpyruvate carboxykinase (GTP) activity TAS
Traceable Author Statement
more info
 
phosphoenolpyruvate carboxykinase activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to dexamethasone stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to glucose stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gluconeogenesis IEA
Inferred from Electronic Annotation
more info
 
gluconeogenesis TAS
Traceable Author Statement
more info
 
glycerol biosynthetic process from pyruvate IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hepatocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
propionate catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pyruvate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to lipid IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to starvation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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 109.20200815

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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