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

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: mouse all
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Genomic context

Location:: 14q11.2-q12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24094171..24104125)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18292333..18302437)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24563520..24573334)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
Title: AF9 sustains glycolysis in colorectal cancer via H3K9ac-mediated PCK2 and FBP1 transcription.
Mitochondrial phosphoenolpyruvate carboxykinase promotes tumor growth in estrogen receptor-positive breast cancer via regulation of the mTOR pathway.
Title: Mitochondrial phosphoenolpyruvate carboxykinase promotes tumor growth in estrogen receptor-positive breast cancer via regulation of the mTOR pathway.
Glycosylation defects, offset by PEPCK-M, drive entosis in breast carcinoma cells.
Title: Glycosylation defects, offset by PEPCK-M, drive entosis in breast carcinoma cells.
Low expression of PCK2 in breast tumors contributes to better prognosis by inducing senescence of cancer cells.
Title: Low expression of PCK2 in breast tumors contributes to better prognosis by inducing senescence of cancer cells.
Role of PCK2 in the proliferation of vascular smooth muscle cells in neointimal hyperplasia.
Title: Role of PCK2 in the proliferation of vascular smooth muscle cells in neointimal hyperplasia.
A novel mutation in PCK2 gene causes primary angle-closure glaucoma.
Title: A novel mutation in PCK2 gene causes primary angle-closure glaucoma.
Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis.
Title: Phosphoenolpyruvate carboxykinase in cell metabolism: Roles and mechanisms beyond gluconeogenesis.
PCK2 opposes mitochondrial respiration and maintains the redox balance in starved lung cancer cells.
Title: PCK2 opposes mitochondrial respiration and maintains the redox balance in starved lung cancer cells.
Proteomic Analysis of Hepatocellular Carcinoma Tissues With Encapsulation Shows Up-regulation of Leucine Aminopeptidase 3 and Phosphoenolpyruvate Carboxykinase 2.
Title: Proteomic Analysis of Hepatocellular Carcinoma Tissues With Encapsulation Shows Up-regulation of Leucine Aminopeptidase 3 and Phosphoenolpyruvate Carboxykinase 2.
PURalpha Promotes the Transcriptional Activation of PCK2 in Oesophageal Squamous Cell Carcinoma Cells.
Title: PURα Promotes the Transcriptional Activation of PCK2 in Oesophageal Squamous Cell Carcinoma Cells.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Phosphoenolpyruvate carboxykinase deficiency, mitochondrial MedGen: C1849821 OMIM: 261650 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-34002 (e-PCR)
- UniSTS:65102

RH17782 (e-PCR)
- UniSTS:76919

MARC_3785-3786:991937600:6 (e-PCR)
- UniSTS:231057

RH191 (e-PCR)
- UniSTS:66994

G27394 (e-PCR)
- UniSTS:20675

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	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: phosphoenolpyruvate carboxykinase [GTP], mitochondrial

Names: PEP carboxykinase; epididymis secretory sperm binding protein; phosphopyruvate carboxylase

NP_001018083.2

EC 4.1.1.32

NP_001278485.1

EC 4.1.1.32

NP_001294983.1

EC 4.1.1.32

NP_004554.3

EC 4.1.1.32

XP_006720221.1

EC 4.1.1.32

XP_047287384.1

EC 4.1.1.32

XP_047287385.1

EC 4.1.1.32

XP_054188324.1

EC 4.1.1.32

XP_054188325.1

EC 4.1.1.32

XP_054232136.1

EC 4.1.1.32

XP_054232137.1

EC 4.1.1.32

XP_054232138.1

EC 4.1.1.32

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

NG_008162.2 RefSeqGene

Range

5038..14852

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018073.3 → NP_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:44 → 412

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 ...
NM_001291556.2 → NP_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:1 → 499

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 ...
NM_001308054.2 → NP_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:1 → 499

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 ...
NM_004563.4 → NP_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:44 → 633

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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

24094171..24104125

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047431429.1 → XP_047287385.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1
XM_047431428.1 → XP_047287384.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1
XM_006720158.3 → XP_006720221.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2

UniProtKB/TrEMBL

A0A0S2Z451

Related

ENSP00000453444.1, ENST00000559250.5

Conserved Domains (1) summary

cd00819
Location:44 → 490

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

NW_018654722.1 Reference GRCh38.p14 PATCHES

Range

395154..405103

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054332349.1 → XP_054188324.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1
XM_054332350.1 → XP_054188325.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

18292333..18302437

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054376162.1 → XP_054232137.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1
XM_054376161.1 → XP_054232136.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X1
XM_054376163.1 → XP_054232138.1 phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform X2