The ISCA2 gene homepage

General information
Gene symbol ISCA2
Gene name iron-sulfur cluster assembly 2 homolog (S. cerevisiae)
Chromosome 14
Chromosomal band q24.2
Imprinted Unknown
Genomic reference NG_033074.1
Transcript reference NM_194279.2
Exon/intron information NM_194279.2 exon/intron table
Associated with diseases MMDS4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 14
Unique public DNA variants reported 9
Individuals with public variants 17
Hidden variants -
Date created May 03, 2013
Date last updated August 10, 2022
Version ISCA2:220810

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_194279.2.
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 19857
Entrez Gene 122961
PubMed articles ISCA2
OMIM - Gene 615317
OMIM - Diseases MMDS4 (mitochondrial dysfunctions, multiple, syndrome, type 4 (MMDS-4))
Orphanet ISCA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00010157 14 iron-sulfur cluster assembly 2 homolog (S. cerevisiae) NM_194279.2 NP_919255.2 14


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.