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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1482
Gene name Gene Name - the full gene name approved by the HGNC.	NK2 homeobox 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NKX2-5
Synonyms (NCBI Gene) Gene synonyms aliases	CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Atrial Septal Defect	Atrial septal defect 7	rs879253754, rs104893901, rs72554028, rs773922431, rs104893903, rs587782928, rs1554093487, rs606231358, rs587782929, rs1554093433, rs606231359, rs587782930, rs1554093461, rs137852683, rs587784067 View all (10 more)	N/A
Congenital Heart Disease	congenital heart disease	rs864321649, rs864321648, rs864321645, rs864321650	N/A
Tetralogy of Fallot	tetralogy of fallot	rs864321649	N/A
Ventricular septal defect	ventricular septal defect 3	rs387906775	N/A
Atrioventricular septal defect	Atrioventricular septal defect, somatic	rs137852683, rs137852686	N/A

Show/Hide Unknown Diseases (11)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Atrial Fibrillation	familial atrial fibrillation	N/A	N/A	GenCC
Bicuspid aortic valve	familial bicuspid aortic valve	N/A	N/A	GenCC
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Conotruncal heart defect	conotruncal heart malformations	N/A	N/A	GenCC
Double Outlet Right Ventricle	double outlet right ventricle	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Hypothyroidism	hypothyroidism, congenital, nongoitrous, 5, Hypothyroidism, congenital, nongoitrous, 5	N/A	N/A	GenCC, ClinVar
Lissencephaly	lissencephaly due to tuba1a mutation	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Myopathy	dilated cardiomyopathy	N/A	N/A	GenCC
persistent truncus arteriosus	Persistent truncus arteriosus	N/A	N/A	ClinVar

NKX2-5 (NK2 homeobox 5)