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

Gene ID: 5106, updated on 3-Dec-2024

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; AllianceGenome:HGNC:8725
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; mtPCK2; 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:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24094171..24104125)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18292333..18302437)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 8184 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:24544925-24546124 Neighboring gene copine 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5620 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5621 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:24551461-24552375 Neighboring gene neural retina leucine zipper Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:24558209-24558708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24563543-24564192 Neighboring gene Sharpr-MPRA regulatory region 2696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24583239-24583954 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

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
 
enables manganese ion binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphoenolpyruvate carboxykinase (GTP) activity EXP
Inferred from Experiment
more info
PubMed 
enables phosphoenolpyruvate carboxykinase (GTP) activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables phosphoenolpyruvate carboxykinase (GTP) activity IDA
Inferred from Direct Assay
more info
PubMed 
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
 
involved_in cellular response to glucose stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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
 
involved_in hepatocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in oxaloacetate metabolic process IBA
Inferred from Biological aspect of Ancestor
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
 
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
 
Component Evidence Code Pubs
is_active_in mitochondrial matrix IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrial matrix TAS
Traceable Author Statement
more info
 
located_in mitochondrion HTP PubMed 
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

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
XP_047287384.1
XP_047287385.1
XP_054188324.1
XP_054188325.1
XP_054232136.1
XP_054232137.1
XP_054232138.1

NCBI Reference Sequences (RefSeq)

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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/TrEMBL
    A0A0S2Z451
    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
    H0YML5
    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
    H0YML5
    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
    B4DW73, O43253, Q16822, Q86U01, Q9BV62
    UniProtKB/TrEMBL
    A0A0S2Z430, A0A384MTT2
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24094171..24104125
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431429.1XP_047287385.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0YML5
  2. XM_047431428.1XP_047287384.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0YML5
  3. XM_006720158.3XP_006720221.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z451
    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.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    395154..405103
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054332349.1XP_054188324.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0YML5
  2. XM_054332350.1XP_054188325.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z451

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18292333..18302437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376162.1XP_054232137.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0YML5
  2. XM_054376161.1XP_054232136.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1

    UniProtKB/TrEMBL
    H0YML5
  3. XM_054376163.1XP_054232138.1  phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A0S2Z451