full name
NK2 homeobox 5

synonyms
CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3, NKX2-5, ENSG00000183072

HGNC
HGNC:2488

Entrez Gene
Gene:1482

ENSEMBL
ENSG00000183072

location
chr: 5
start: 172659107
stop: 172662315
strand: -

OMIM
OMIM:600584: NKX2-5 (Autosomal dominant inheritance)
OMIM:108900: Atrial septal defect 7, with or without AV conduction defects
OMIM:217095: Conotruncal heart malformations, variable
OMIM:614435: Hypoplastic left heart syndrome 2
OMIM:225250: Hypothyroidism, congenital nongoitrous, 5
OMIM:187500: Tetralogy of Fallot
OMIM:614432: Ventricular septal defect 3

transcripts
NM_004387.3
NM_001166176.1
NM_001166175.1

pathways
Cardiac conduction [NCBI:1339115] [REACTOME:R-HSA-5576891] [PUBMED:19808464] [PUBMED:26140724] [PUBMED:21357845]
Gene Expression [NCBI:1269649] [REACTOME:R-HSA-74160]
Generic Transcription Pathway [NCBI:1269650] [REACTOME:R-HSA-212436] [PUBMED:15175151] [PUBMED:14744435] [PUBMED:15680972] [PUBMED:11395415] [PUBMED:15896744] [PUBMED:10235266] [PUBMED:14986688] [PUBMED:12023297] [PUBMED:15680973] [PUBMED:16751179] [PUBMED:11861166] [PUBMED:16429119] [PUBMED:16719718] [PUBMED:16921404] [PUBMED:15690163]
Muscle contraction [NCBI:1269868] [REACTOME:R-HSA-397014]
Physiological factors [NCBI:1339122] [REACTOME:R-HSA-5578768] [PUBMED:25202235]
Regulation of nuclear SMAD2/3 signaling [NCBI:137963] [Pathway Interaction Database:smad2_3nuclearpathway] [PUBMED:15009097] [PUBMED:11790301] [PUBMED:11836524] [PUBMED:10995736] [PUBMED:11114293] [PUBMED:10973944] [PUBMED:10022869] [PUBMED:11058129] [PUBMED:9722503] [PUBMED:12904571] [PUBMED:14993291] [PUBMED:11013220] [PUBMED:15363409] [PUBMED:9702197] [PUBMED:12718878] [PUBMED:11331591] [PUBMED:12167862] [PUBMED:14729983] [PUBMED:9707553] [PUBMED:10878024] [PUBMED:9679060] [PUBMED:10887155] [PUBMED:10199400] [PUBMED:12631740] [PUBMED:11555647] [PUBMED:15688032] [PUBMED:12150994] [PUBMED:12374795] [PUBMED:9606191] [PUBMED:9702198] [PUBMED:10518526] [PUBMED:10575014] [PUBMED:10485843] [PUBMED:11283614] [PUBMED:10722728] [PUBMED:10037600] [PUBMED:15241418] [PUBMED:14691252] [PUBMED:10748032] [PUBMED:12551947] [PUBMED:14671321] [PUBMED:11427533] [PUBMED:11711431] [PUBMED:10531362] [PUBMED:11571228] [PUBMED:10085140] [PUBMED:17478422] [PUBMED:15044954] [PUBMED:10964912] [PUBMED:11707452] [PUBMED:11801598] [PUBMED:17074756] [PUBMED:12226080] [PUBMED:10557285] [PUBMED:10843994] [PUBMED:15084259] [PUBMED:10531062] [PUBMED:16959612] [PUBMED:9679056] [PUBMED:10652350] [PUBMED:9618481] [PUBMED:11927558] [PUBMED:9732876]
YAP1- and WWTR1 (TAZ)-stimulated gene expression [NCBI:1269653] [REACTOME:R-HSA-2032785] [PUBMED:16332960] [PUBMED:20452772]