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 1595
Unique public DNA variants reported 1352
Individuals with public variants 353
Hidden variants 13
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 October 27, 2021
Version NKX2-5:211027

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 https://www.LOVD.nl/NKX2-5
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 (HLHS2))
TOF (tetralogy of Fallot (TOF))
VSD3 (septal, ventricular defect, type 3 (VSD3))
HGMD NKX2-5
GeneCards NKX2-5
GeneTests NKX2-5
Orphanet NKX2-5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024011 5 transcript variant 1 NM_004387.3 NP_004378.1 1595


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