ELAC2 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol ELAC2
Gene name elaC ribonuclease Z 2
Chromosome 17
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_001165962.1, NM_018127.6, NM_173717.1
Associated with diseases 615440
Citation reference(s) -
Curators (0) -
Total number of public variants reported 66
Unique public DNA variants reported 62
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 15, 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 14198
Entrez Gene 60528
PubMed articles ELAC2
OMIM - Gene 605367
OMIM - Diseases 615440 (Combined oxidative phosphorylation deficiency 17, 615440 (3))
HGMD ELAC2
GeneCards ELAC2
GeneTests ELAC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001869 17 elaC homolog 2 (E. coli), transcript variant 3 NM_001165962.1 NP_001159434.1 66
00001870 17 elaC homolog 2 (E. coli), transcript variant 2 NM_173717.1 NP_776065.1 66
00001871 17 elaC homolog 2 (E. coli), transcript variant 1 NM_018127.6 NP_060597.4 66


Copyright & disclaimer
; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium