Gene table of NKX2-5 : NK2 homeobox 5

Gene-disease associations table

Disease ID	Disease name	Source of annotation with NKX2-5	OMIM link	Number of associated genes	genes
PS108800	ATRIAL SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	8	GATA4, TBX20, NKX2-5, CITED2, GATA6, ACTC1, MYH6, TLL1
217095	CONOTRUNCAL HEART MALFORMATIONS	OMIM	link to OMIM	6	NKX2-5, TBX1, GATA6, GDF1, NKX2-6, ZFPM2
187500	TETRALOGY OF FALLOT	ClinVar, OMIM, HUMSAVAR	link to OMIM	7	GATA4, NKX2-5, TBX1, GATA6, ZFPM2, GDF1, JAG1
PS614429	VENTRICULAR SEPTAL DEFECT	ClinVar, OMIM, HUMSAVAR	link to OMIM	3	GATA4, NKX2-5, CITED2
PS241550	HYPOPLASTIC LEFT HEART SYNDROME	ClinVar, OMIM	link to OMIM	3	FOXP1, GJA1, NKX2-5
271400	ASPLENIA, ISOLATED CONGENITAL	ClinVar	link to OMIM	2	NKX2-5, RPSA
PS275200	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	PAX8, THRA, NKX2-5, TSHR, TSHB

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Annotation of the gene NKX2-5

Associated genes in ENSEMBL

ENSG00000183072

Associated proteins - SwissProt Accession ID

P52952

Associated PDB IDs

Cytogenetic Band

5q35.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is a TF of the genes:

It is regulated by the following TF:

GATA4

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Generic Transcription Pathway	R-HSA-212436	3.86
Gene Expression	R-HSA-74160	2.72
YAP1- and WWTR1 (TAZ)-stimulated gene expression	R-HSA-2032785	8.12

Associated GO terms for Molecular function

GO term	GO ID	GO IC
RNA polymerase II regulatory region DNA binding	GO:0001012	3.36
core promoter proximal region DNA binding	GO:0001159	3.82
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding	GO:0003705	5.23
transcription factor activity, RNA polymerase II transcription factor binding	GO:0001076	4.84
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0001077	4.31
macromolecular complex binding	GO:0044877	2.61
nucleic acid binding transcription factor activity	GO:0001071	2.65
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
heterocyclic compound binding	GO:1901363	1.06
sequence-specific DNA binding	GO:0043565	2.79
transcriptional repressor activity, RNA polymerase II transcription factor binding	GO:0001191	5.28
transcriptional activator activity, RNA polymerase II transcription factor binding	GO:0001190	5.77
transcription cofactor activity	GO:0003712	3.44
transcription factor activity, transcription factor binding	GO:0000989	3.36
transcription factor activity, protein binding	GO:0000988	3.35
core promoter proximal region sequence-specific DNA binding	GO:0000987	3.83
double-stranded DNA binding	GO:0003690	3.09
transcription factor activity, RNA polymerase II core promoter proximal region sequence-specific binding	GO:0000982	3.94
identical protein binding	GO:0042802	2.63
RNA polymerase II regulatory region sequence-specific DNA binding	GO:0000977	3.37
transcription factor binding	GO:0008134	3.46
regulatory region DNA binding	GO:0000975	3.03
regulatory region nucleic acid binding	GO:0001067	3.03
RNA polymerase II transcription cofactor activity	GO:0001104	5.22
protein homodimerization activity	GO:0042803	3.16
sequence-specific double-stranded DNA binding	GO:1990837	3.2
protein dimerization activity	GO:0046983	2.72
transcription regulatory region DNA binding	GO:0044212	3.03
protein heterodimerization activity	GO:0046982	3.64
transcription factor activity, sequence-specific DNA binding	GO:0003700	2.65
organic cyclic compound binding	GO:0097159	1.05
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	GO:0001228	3.98
serum response element binding	GO:0010736	9.05
transcription regulatory region sequence-specific DNA binding	GO:0000976	3.24
RNA polymerase II transcription factor activity, sequence-specific DNA binding	GO:0000981	3.29
protein binding	GO:0005515	0.46
transcriptional repressor activity, RNA polymerase II activating transcription factor binding	GO:0098811	5.77
RNA polymerase II core promoter proximal region sequence-specific DNA binding	GO:0000978	3.88
chromatin binding	GO:0003682	3.64
binding	GO:0005488	0.18