Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1482
Gene name	NK2 homeobox 5
Gene symbol	NKX2-5
Synonyms (NCBI Gene)	CHNG5CSXCSX1HLHS2NKX2.5NKX2ENKX4-1VSD3
Chromosome	5
Chromosome location	5q35.1
Summary	This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot,

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28936670	G>A	Pathogenic, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs72554028	C>G,T	Benign-likely-benign, likely-benign, pathogenic, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs77612903	G>A,C,T	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant, 3 prime UTR variant
rs104893900	G>A	Pathogenic	Missense variant, coding sequence variant, downstream transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs104893901	G>A	Pathogenic	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, 3 prime UTR variant
rs104893902	G>A	Pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
rs104893903	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant
rs104893904	C>G	Benign, likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs104893905	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
rs104893906	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant, genic downstream transcript variant
rs104893907	A>C,T	Pathogenic	3 prime UTR variant, coding sequence variant, stop gained, genic downstream transcript variant
rs137852683	T>C	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs137852684	C>A,T	Benign, pathogenic, benign-likely-benign, likely-benign	Missense variant, downstream transcript variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs137852685	C>G	Pathogenic	Missense variant, downstream transcript variant, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs137852686	T>C	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs151314714	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs201249977	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant
rs201442000	T>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs375086983	G>A,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant
rs387906773	T>A	Pathogenic	Coding sequence variant, missense variant
rs387906774	G>C,T	Pathogenic	Missense variant, 3 prime UTR variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs387906775	G>C	Pathogenic	Coding sequence variant, missense variant
rs387906776	G>A,C,T	Pathogenic, uncertain-significance	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, missense variant
rs397516908	CCG>AT	Likely-pathogenic	3 prime UTR variant, frameshift variant, genic downstream transcript variant, downstream transcript variant, coding sequence variant
rs587782928	T>C	Pathogenic	Missense variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, downstream transcript variant
rs587782929	C>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs587782930	ACGCCGTA>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs587784066	TG>-	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, frameshift variant, coding sequence variant, downstream transcript variant
rs587784067	G>-	Pathogenic, uncertain-significance	Coding sequence variant, frameshift variant, 3 prime UTR variant, genic downstream transcript variant
rs606231358	CCAGCTC>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231359	CG>-	Pathogenic	Coding sequence variant, frameshift variant
rs606231360	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs756974215	TTG>-	Pathogenic, uncertain-significance	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, inframe deletion
rs773922431	G>A,C,T	Likely-pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs786205824	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs786205826	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant
rs797044675	->GG	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant
rs797045790	CTG>AACGGTAC	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs797045791	A>C	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs797045792	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, 3 prime UTR variant
rs864321645	C>A	Pathogenic	Genic downstream transcript variant, splice acceptor variant, 3 prime UTR variant, downstream transcript variant
rs864321648	C>T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs864321649	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, downstream transcript variant, coding sequence variant, 3 prime UTR variant
rs864321650	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs876657934	G>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, 3 prime UTR variant, downstream transcript variant
rs876661380	C>A	Uncertain-significance, pathogenic	Splice donor variant
rs876661381	G>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant, 3 prime UTR variant
rs879253754	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant
rs1057520670	G>C	Pathogenic	Genic downstream transcript variant, stop gained, 3 prime UTR variant, coding sequence variant
rs1554093433	G>T	Pathogenic	Coding sequence variant, 3 prime UTR variant, stop gained, genic downstream transcript variant
rs1554093461	CA>-	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, frameshift variant, genic downstream transcript variant
rs1554093487	G>T	Pathogenic	Downstream transcript variant, stop gained, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1561619801	->T	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant, 3 prime UTR variant
rs1561621507	CCTCTGGCTTGAAGGCG>AGGAGGC	Pathogenic	Coding sequence variant, frameshift variant
rs1581108237	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1581108437	TGGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs1581111034	CTTTCTTTTCGGCTCTAGGGTCCTTGGCTGGGTCGGGGTCGCTGTAGGCACGTGGATAGAAGGCGGGGGCGGCGGGAAAGGCAGACGCACACTTGGCCGGTGAAGGCGCGCGGCCCAGCTCTGCGCGCAGCTCTGGGAGGCCCGGCGCAGCCGCCTCGGGCCCAGCGTAGGCCTCTGGCTTGAAGGCGGCCAGCATGCAGGAGGAGGGCGCCAGGGTCGCCTCCAGGCGGGCAGAGAGCTCTCCGGCGGCAGCCA	Pathogenic	Initiator codon variant, genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, splice donor variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030022	hsa-miR-26b-5p	Microarray	19088304
MIRT050106	hsa-miR-26a-5p	CLASH	23622248
MIRT043120	hsa-miR-324-5p	CLASH	23622248
MIRT039794	hsa-miR-615-3p	CLASH	23622248
MIRT495609	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495608	hsa-miR-4493	PAR-CLIP	22291592
MIRT495607	hsa-miR-6820-5p	PAR-CLIP	22291592
MIRT495606	hsa-miR-1538	PAR-CLIP	22291592
MIRT495605	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT495604	hsa-miR-1908-5p	PAR-CLIP	22291592
MIRT495603	hsa-miR-663a	PAR-CLIP	22291592
MIRT495602	hsa-miR-6787-5p	PAR-CLIP	22291592
MIRT495601	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT495600	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT495599	hsa-miR-6881-5p	PAR-CLIP	22291592
MIRT495598	hsa-miR-555	PAR-CLIP	22291592
MIRT495597	hsa-miR-6126	PAR-CLIP	22291592
MIRT495610	hsa-miR-3622b-5p	PAR-CLIP	22291592
MIRT495609	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495608	hsa-miR-4493	PAR-CLIP	22291592
MIRT495607	hsa-miR-6820-5p	PAR-CLIP	22291592
MIRT495606	hsa-miR-1538	PAR-CLIP	22291592
MIRT495605	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT495604	hsa-miR-1908-5p	PAR-CLIP	22291592
MIRT495603	hsa-miR-663a	PAR-CLIP	22291592
MIRT495602	hsa-miR-6787-5p	PAR-CLIP	22291592
MIRT495601	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT495600	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT495599	hsa-miR-6881-5p	PAR-CLIP	22291592
MIRT495598	hsa-miR-555	PAR-CLIP	22291592
MIRT495597	hsa-miR-6126	PAR-CLIP	22291592
MIRT495609	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495608	hsa-miR-4493	PAR-CLIP	22291592
MIRT495607	hsa-miR-6820-5p	PAR-CLIP	22291592
MIRT495606	hsa-miR-1538	PAR-CLIP	22291592
MIRT495605	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT495604	hsa-miR-1908-5p	PAR-CLIP	22291592
MIRT495603	hsa-miR-663a	PAR-CLIP	22291592
MIRT495602	hsa-miR-6787-5p	PAR-CLIP	22291592
MIRT495601	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT495600	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT495599	hsa-miR-6881-5p	PAR-CLIP	22291592
MIRT495598	hsa-miR-555	PAR-CLIP	22291592
MIRT495597	hsa-miR-6126	PAR-CLIP	22291592
MIRT495610	hsa-miR-3622b-5p	PAR-CLIP	22291592
MIRT495609	hsa-miR-4747-3p	PAR-CLIP	22291592
MIRT495608	hsa-miR-4493	PAR-CLIP	22291592
MIRT495607	hsa-miR-6820-5p	PAR-CLIP	22291592
MIRT495606	hsa-miR-1538	PAR-CLIP	22291592
MIRT495605	hsa-miR-4745-3p	PAR-CLIP	22291592
MIRT495604	hsa-miR-1908-5p	PAR-CLIP	22291592
MIRT495603	hsa-miR-663a	PAR-CLIP	22291592
MIRT495602	hsa-miR-6787-5p	PAR-CLIP	22291592
MIRT495601	hsa-miR-4747-5p	PAR-CLIP	22291592
MIRT495600	hsa-miR-5196-5p	PAR-CLIP	22291592
MIRT495599	hsa-miR-6881-5p	PAR-CLIP	22291592
MIRT495598	hsa-miR-555	PAR-CLIP	22291592
MIRT495597	hsa-miR-6126	PAR-CLIP	22291592
MIRT1186554	hsa-miR-1257	CLIP-seq
MIRT1186555	hsa-miR-4433	CLIP-seq
MIRT1186556	hsa-miR-4722-5p	CLIP-seq
MIRT2054064	hsa-miR-1225-3p	CLIP-seq
MIRT2054065	hsa-miR-3127-3p	CLIP-seq
MIRT2054066	hsa-miR-3689a-3p	CLIP-seq
MIRT2054067	hsa-miR-3689c	CLIP-seq
MIRT2054068	hsa-miR-4300	CLIP-seq
MIRT2054069	hsa-miR-4425	CLIP-seq
MIRT2054070	hsa-miR-4713-5p	CLIP-seq
MIRT2054071	hsa-miR-4740-3p	CLIP-seq
MIRT2054072	hsa-miR-920	CLIP-seq

151

Show/Hide all (151)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19479054
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	8900537
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19479054, 29899023
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	22849347, 26926761
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IMP	15649947
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	8900537
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001216	Function	DNA-binding transcription activator activity	IDA	29325903
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	19578358
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IMP	15649947
GO:0001570	Process	Vasculogenesis	IEA
GO:0001570	Process	Vasculogenesis	ISS	8900537
GO:0001947	Process	Heart looping	IEA
GO:0001947	Process	Heart looping	ISS	8900537
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003007	Process	Heart morphogenesis	ISS	8900537
GO:0003148	Process	Outflow tract septum morphogenesis	IMP	20807224
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003161	Process	Cardiac conduction system development	IMP	15109497
GO:0003161	Process	Cardiac conduction system development	IMP	27207958
GO:0003162	Process	Atrioventricular node development	IEA
GO:0003162	Process	Atrioventricular node development	ISS
GO:0003166	Process	Bundle of His development	IEA
GO:0003166	Process	Bundle of His development	ISS
GO:0003168	Process	Purkinje myocyte differentiation	IEA
GO:0003180	Process	Aortic valve morphogenesis	TAS	29325903
GO:0003208	Process	Cardiac ventricle morphogenesis	IEA
GO:0003211	Process	Cardiac ventricle formation	IEA
GO:0003221	Process	Right ventricular cardiac muscle tissue morphogenesis	IMP	20807224
GO:0003222	Process	Ventricular trabecula myocardium morphogenesis	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	IEA
GO:0003228	Process	Atrial cardiac muscle tissue development	ISS
GO:0003278	Process	Apoptotic process involved in heart morphogenesis	IEA
GO:0003285	Process	Septum secundum development	IMP	10587520
GO:0003342	Process	Proepicardium development	IEA
GO:0003350	Process	Pulmonary myocardium development	IEA
GO:0003677	Function	DNA binding	IDA	9858576
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IDA	16678093
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9312027
GO:0003700	Function	DNA-binding transcription factor activity	IDA	9858576, 10948187, 11431700
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	11431700
GO:0005515	Function	Protein binding	IPI	9312027, 10075728, 11431700, 12499378, 14757752, 18579533, 19797053, 26926761, 29899023, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9858576, 10948187, 29899023
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005667	Component	Transcription regulator complex	IC	9312027
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	22849347
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISO
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IMP	9651244
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	ISS	8900537
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IEA
GO:0010667	Process	Negative regulation of cardiac muscle cell apoptotic process	IMP	11889119
GO:0010765	Process	Positive regulation of sodium ion transport	IEA
GO:0010765	Process	Positive regulation of sodium ion transport	ISS	8900537
GO:0010832	Process	Negative regulation of myotube differentiation	IMP	15653675
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	ISS	8900537
GO:0030154	Process	Cell differentiation	IBA
GO:0030154	Process	Cell differentiation	ISS	8900537
GO:0030855	Process	Epithelial cell differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0030878	Process	Thyroid gland development	IMP	16418214
GO:0032991	Component	Protein-containing complex	IDA	26926761
GO:0032993	Component	Protein-DNA complex	IDA	22849347
GO:0035050	Process	Embryonic heart tube development	IEA
GO:0035050	Process	Embryonic heart tube development	ISS	8900537
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS	8900537
GO:0043565	Function	Sequence-specific DNA binding	IDA	10948187
GO:0045666	Process	Positive regulation of neuron differentiation	IMP	15653675
GO:0045823	Process	Positive regulation of heart contraction	IEA
GO:0045823	Process	Positive regulation of heart contraction	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS	8900537
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	11431700
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS	8900537
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10948187, 19578358, 29325903
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	16678093
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	11431700, 15649947, 18079734, 19479054, 29899023
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	8900537
GO:0048536	Process	Spleen development	IEA
GO:0048536	Process	Spleen development	IMP	22560297
GO:0048536	Process	Spleen development	ISS	8900537
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051891	Process	Positive regulation of cardioblast differentiation	IEA
GO:0051891	Process	Positive regulation of cardioblast differentiation	ISS	8900537
GO:0055005	Process	Ventricular cardiac myofibril assembly	IEA
GO:0055007	Process	Cardiac muscle cell differentiation	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IEA
GO:0055008	Process	Cardiac muscle tissue morphogenesis	IMP	11889119
GO:0055008	Process	Cardiac muscle tissue morphogenesis	ISS
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	ISS
GO:0055014	Process	Atrial cardiac muscle cell development	ISS	8900537
GO:0055015	Process	Ventricular cardiac muscle cell development	ISS	8900537
GO:0055117	Process	Regulation of cardiac muscle contraction	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	ISS	8900537
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060037	Process	Pharyngeal system development	ISS	8900537
GO:0060038	Process	Cardiac muscle cell proliferation	IEA
GO:0060043	Process	Regulation of cardiac muscle cell proliferation	IEA
GO:0060047	Process	Heart contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	ISS	8900537
GO:0060347	Process	Heart trabecula formation	IEA
GO:0060411	Process	Cardiac septum morphogenesis	IEA
GO:0060411	Process	Cardiac septum morphogenesis	ISO
GO:0060412	Process	Ventricular septum morphogenesis	IMP	10587520, 20807224
GO:0060413	Process	Atrial septum morphogenesis	IMP	9651244, 10587520
GO:0060928	Process	Atrioventricular node cell development	IEA
GO:0060929	Process	Atrioventricular node cell fate commitment	IEA
GO:0060971	Process	Embryonic heart tube left/right pattern formation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	9858576, 11431700
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	9312027
GO:1903779	Process	Regulation of cardiac conduction	IEA
GO:1903779	Process	Regulation of cardiac conduction	ISS	8900537
GO:1904019	Process	Epithelial cell apoptotic process	IEA
GO:1904036	Process	Negative regulation of epithelial cell apoptotic process	IEA
GO:1990664	Component	Nkx-2.5 complex	IPI	22849347
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
600584	2488	ENSG00000183072

P52952

Protein name

Homeobox protein Nkx-2.5 (Cardiac-specific homeobox) (Homeobox protein CSX) (Homeobox protein NK-2 homolog E)

Protein function

Transcription factor required for the development of the heart and the spleen (PubMed:22560297). During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to nega

PDB

3RKQ , 4S0H , 6WC2 , 6WC5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	139 → 195	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed only in the heart.

Sequence

MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPE
AAAPGLPELRAELGRAPSPAKCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAV
ELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQRYLSAPERDQLASVLKLTST
QVKIWFQNRRYKCKRQRQDQTLELVGLPPPPPPPARRIAVPVLVRDGKPCLGDSAPYAPA
YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDL
NAVQSPGIPQSNSGVSTLHGIRAW

Sequence length

324

Interactions

View interactions

	Reactome
			YAP1- and WWTR1 (TAZ)-stimulated gene expression Physiological factors

796

Show/Hide Causal Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cardiovascular system morphology	Pathogenic	rs797045792, rs797045791, rs797045790	RCV000193839 RCV000192960 RCV000195107
Atrial septal defect	Likely pathogenic; Pathogenic	rs1554093433	RCV000626863
Atrial septal defect 7	Likely pathogenic; Pathogenic	rs1761346424, rs2113901873, rs2113901504, rs2113901862, rs2113905914, rs2113905948, rs2113906009, rs758539727, rs2113906336, rs2113902216, rs2113906167, rs397516909, rs2113901553, rs2113901956, rs797045791 View all (51 more)	RCV001313496 RCV001376992 RCV001385601 RCV001383345 RCV001381274 RCV001380091 RCV001730133 RCV001913579 RCV001967917 RCV001904166 RCV001999853 RCV001994587 RCV001938276 RCV001911633 RCV002023478 RCV002007293 RCV001951013 RCV001885642 RCV001944124 RCV001941194 RCV001981524 RCV001895301 RCV001942526 RCV000144176 RCV000144177 RCV000144178 RCV000550275 RCV002472192 RCV003037133 RCV002801455 RCV002819875 RCV002894266 RCV002889896 RCV003025938 RCV003051877 RCV000009568 RCV000009569 RCV000009570 RCV000009577 RCV000009578 RCV000009579 RCV000009581 RCV000009583 RCV000234875 RCV000240621 RCV003340736 RCV003510652 RCV003511220 RCV003510006 RCV003509980 RCV003510133 RCV003510261 RCV003620674 RCV003621020 RCV003869443 RCV003619678 RCV000023020 RCV000588165 RCV003767784 RCV001049571 RCV000644449 RCV000690794 RCV000707466 RCV000818694 RCV000818509 RCV001052873 RCV001058874 RCV001222867 RCV001216063
Atrioventricular septal defect, somatic	Pathogenic	rs137852683, rs137852686	RCV000009580 RCV000009586
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2113906336, rs397516909, rs2113906234, rs2480079337, rs2480072423, rs1554093487	RCV002397979 RCV005374896 RCV003303443 RCV004371647 RCV004985493 RCV000621937
Congenital heart disease	Likely pathogenic; Pathogenic	rs864321649, rs864321648, rs864321645, rs864321650	RCV000203525 RCV000203502 RCV000203558 RCV000203543
Heart, malformation of	Likely pathogenic	rs876657934, rs397516908	RCV000219333 RCV000037965
Hypothyroidism, congenital, nongoitrous, 5	Likely pathogenic	rs1761374435	RCV001775361
Malformation of the heart and great vessels	Likely pathogenic; Pathogenic	rs587784067, rs587784066	RCV000146756 RCV000146752
NKX2-5-related disorder	Likely pathogenic; Pathogenic	rs587784067	RCV003965106
Noncompaction cardiomyopathy	Likely pathogenic; Pathogenic	rs1554093433	RCV000626863
Primary dilated cardiomyopathy	Likely pathogenic; Pathogenic	rs1554093433	RCV000626863
Tetralogy of Fallot	Likely pathogenic; Pathogenic	rs864321649, rs2480073228, rs1761360431	RCV004813078 RCV003315207 RCV001261993
Ventricular fibrillation	Likely pathogenic; Pathogenic	rs1554093433	RCV000626863
Ventricular septal defect 3	Pathogenic	rs387906775	RCV000023024

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Aortic arch interruption	Conflicting classifications of pathogenicity	rs28936670	RCV000023017
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs55880439	RCV005921677
Clear cell carcinoma of kidney	Benign	rs3095871	RCV005886732
Conotruncal heart malformations	Uncertain significance	rs2480073115, rs1358735679	RCV003486385 RCV004799216
Double outlet right ventricle	Uncertain significance	rs756974215	RCV000023022
Familial cancer of breast	Benign	rs55880439	RCV005921674
Familial isolated congenital asplenia	Conflicting classifications of pathogenicity	rs397515399	RCV000032628
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	rs762090105	RCV000852563
Hypoplastic left heart syndrome 2	Conflicting classifications of pathogenicity; Uncertain significance	rs28936670, rs1358735679	RCV000023019 RCV004799216
Lissencephaly due to TUBA1A mutation	Benign; Likely benign	rs72554028	RCV001258246
Long QT syndrome	Conflicting classifications of pathogenicity	rs587782931	RCV003318350
Lymphoma	Benign	rs55880439	RCV005921676
NKX2.5-related congenital, conduction and myopathic heart disease	Uncertain significance	rs984722259	RCV006249861
Ovarian cancer	Benign	rs55880439	RCV005921675
Persistent truncus arteriosus	Conflicting classifications of pathogenicity	rs28936670	RCV004794326
Reclassified - variant of unknown significance	Conflicting classifications of pathogenicity	rs876661380	RCV004720247
Single ventricle	Conflicting classifications of pathogenicity	rs587782931	RCV000144179
small Atrial septal defect	Conflicting classifications of pathogenicity	rs587782931	RCV000144179

NKX2-5 (NK2 homeobox 5)