NDUFS2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFS2
Gene name NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
Chromosome 1
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NC_000001.10
Transcript reference NM_001166159.1, NM_004550.4, XM_005245208.1, XM_005245209.1
Associated with diseases 252010
Citation reference(s) -
Curators (0) -
Total number of public variants reported 45
Unique public DNA variants reported 42
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Date created November 07, 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 7708
Entrez Gene 4720
PubMed articles NDUFS2
OMIM - Gene 602985
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
GeneCards NDUFS2
GeneTests NDUFS2

Active transcripts




NCBI ID     

NCBI Protein ID     

00000207 1 transcript variant X1 XM_005245208.1 XP_005245265.1 45
00000208 1 transcript variant 1 NM_004550.4 NP_004541.1 45
00000209 1 transcript variant 2 NM_001166159.1 NP_001159631.1 45
00000210 1 transcript variant X2 XM_005245209.1 XP_005245266.1 45

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium