PCK2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol PCK2
Gene name phosphoenolpyruvate carboxykinase 2 (mitochondrial)
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NC_000014.8
Transcript reference NM_001018073.1, NM_004563.2, XM_005267726.1, XM_005267727.1, XM_005267728.1, XM_005267729.1
Associated with diseases 261650
Citation reference(s) -
Curators (0) -
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 12, 2013

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 8725
Entrez Gene 5106
PubMed articles PCK2
OMIM - Gene 614095
OMIM - Diseases 261650 (PEPCK deficiency, mitochondrial, 261650 (1))
GeneCards PCK2
GeneTests PCK2

Active transcripts




NCBI ID     

NCBI Protein ID     

00001042 14 transcript variant X1 XM_005267726.1 XP_005267783.1 2
00001043 14 transcript variant X2 XM_005267727.1 XP_005267784.1 2
00001044 14 transcript variant 1 NM_004563.2 NP_004554.2 2
00001045 14 transcript variant 2 NM_001018073.1 NP_001018083.1 2
00001046 14 transcript variant X4 XM_005267729.1 XP_005267786.1 2
00001047 14 transcript variant X3 XM_005267728.1 XP_005267785.1 2

Copyright & disclaimer
; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium