PCK2 gene homepage - MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

PCK2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information

Gene symbol

PCK2

Gene name

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

Chromosome

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

Unique public DNA variants reported

Individuals with public variants

Hidden variants

Download all this gene's data

Download all data

Notes

MSeqDR-LSDB

Date created

November 12, 2013

Graphical displays and utilities

Graphs

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

Entrez Gene

PubMed articles

OMIM - Gene

OMIM - Diseases

261650 (PEPCK deficiency, mitochondrial, 261650 (1))

HGMD

PCK2

GeneCards

PCK2

GeneTests

PCK2

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium