The NKX2-5 gene homepage

General information
Gene symbol NKX2-5
Gene name NK2 homeobox 5
Chromosome 5
Chromosomal band q34
Imprinted Unknown
Genomic reference NG_013340.1
Transcript reference NM_004387.3
Exon/intron information NM_004387.3 exon/intron table
Associated with diseases ASD7, CHNG5, CTHM, HLHS2, TOF, VSD3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 1601
Unique public DNA variants reported 1357
Individuals with public variants 375
Hidden variants 10
Download all this gene's data Download all data
Notes We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated May 09, 2022
Version NKX2-5:220509

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_004387.3.
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
Homepage URL
HGNC 2488
Entrez Gene 1482
PubMed articles NKX2-5
OMIM - Gene 600584
OMIM - Diseases ASD7 (septal defect, atrial, type 7 with/without atrioventricular conduction defects (ASD7))
CHNG5 (hypothyroidism, congenital, nongoitrous, type 5 (CHNG5))
CTHM (heart malformations, conotruncal (CTHM))
HLHS2 (heart, hypoplastic left, syndrome, type 2 (HLHS-2))
TOF (tetralogy of Fallot (TOF))
VSD3 (septal, ventricular defect, type 3 (VSD-3))
GeneCards NKX2-5
GeneTests NKX2-5
Orphanet NKX2-5

Active transcripts




NCBI ID     

NCBI Protein ID     

00024011 5 transcript variant 1 NM_004387.3 NP_004378.1 1601

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 © 2013-2022. 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.