GENERAL INFORMATIONi
Gene namei NKX2-5
Synonyms CSX, CSX1, NKX2.5, NKX2E, NKX4-1
Gene descriptioni NK2 homeobox 5
Protein classi Disease related genes
Human disease related genes
Transcription factors
Predicted locationi Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi
Chromosome 5
Cytoband q35.1
Chromosome location (bp) 173232109 - 173235311
Number of transcriptsi 4
Ensembl ENSG00000183072 (version 109)
Entrez gene 1482
HGNC HGNC:2488
UniProt P52952 (UniProt - Evidence at protein level)
neXtProt NX_P52952
GeneCards NKX2-5
Antibodypedia NKX2-5 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i Transcription factor required for the development of the heart and the spleen 1. During heart development, acts as a transcriptional activator of NPPA/ANF in cooperation with GATA4 (By similarity). May cooperate with TBX2 to negatively modulate expression of NPPA/ANF in the atrioventricular canal (By similarity). Binds to the core DNA motif of NPPA promoter 2, 3. Together with PBX1, required for spleen development through a mechanism that involves CDKN2B repression 4. Positively regulates transcription of genes such as COL3A1 and MMP2, resulting in increased pulmonary endothelial fibrosis in response to hypoxia 5. show less
Molecular function (UniProt)i Developmental protein, DNA-binding
Gene summary (Entrez)i 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, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] show less
PROTEIN INFORMATIONi
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)		 Transmembrane regions
(predicted)
NKX2-5-201
ENSP00000327758
ENST00000329198
P52952
[Direct mapping] Homeobox protein Nkx-2.5
Show all
A0A0S2Z383
[Target identity:100%; Query identity:100%] Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Congenital malformations
   Congenital malformations of the circulatory system
   Endocrine and metabolic diseases
   Thyroid gland diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001570 [vasculogenesis]
GO:0001947 [heart looping]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003151 [outflow tract morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003162 [atrioventricular node development]
GO:0003166 [bundle of His development]
GO:0003168 [Purkinje myocyte differentiation]
GO:0003180 [aortic valve morphogenesis]
GO:0003208 [cardiac ventricle morphogenesis]
GO:0003211 [cardiac ventricle formation]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003222 [ventricular trabecula myocardium morphogenesis]
GO:0003228 [atrial cardiac muscle tissue development]
GO:0003278 [apoptotic process involved in heart morphogenesis]
GO:0003285 [septum secundum development]
GO:0003342 [proepicardium development]
GO:0003350 [pulmonary myocardium development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription regulator complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0006366 [transcription by RNA polymerase II]
GO:0006915 [apoptotic process]
GO:0007507 [heart development]
GO:0007512 [adult heart development]
GO:0008283 [cell population proliferation]
GO:0008284 [positive regulation of cell population proliferation]
GO:0010628 [positive regulation of gene expression]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010765 [positive regulation of sodium ion transport]
GO:0010832 [negative regulation of myotube differentiation]
GO:0030097 [hemopoiesis]
GO:0030154 [cell differentiation]
GO:0030855 [epithelial cell differentiation]
GO:0030878 [thyroid gland development]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035050 [embryonic heart tube development]
GO:0042803 [protein homodimerization activity]
GO:0043066 [negative regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048536 [spleen development]
GO:0048738 [cardiac muscle tissue development]
GO:0050673 [epithelial cell proliferation]
GO:0050679 [positive regulation of epithelial cell proliferation]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055005 [ventricular cardiac myofibril assembly]
GO:0055007 [cardiac muscle cell differentiation]
GO:0055008 [cardiac muscle tissue morphogenesis]
GO:0055013 [cardiac muscle cell development]
GO:0055014 [atrial cardiac muscle cell development]
GO:0055015 [ventricular cardiac muscle cell development]
GO:0055117 [regulation of cardiac muscle contraction]
GO:0060037 [pharyngeal system development]
GO:0060038 [cardiac muscle cell proliferation]
GO:0060043 [regulation of cardiac muscle cell proliferation]
GO:0060047 [heart contraction]
GO:0060048 [cardiac muscle contraction]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
GO:0060347 [heart trabecula formation]
GO:0060412 [ventricular septum morphogenesis]
GO:0060413 [atrial septum morphogenesis]
GO:0060928 [atrioventricular node cell development]
GO:0060929 [atrioventricular node cell fate commitment]
GO:0060971 [embryonic heart tube left/right pattern formation]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:1903779 [regulation of cardiac conduction]
GO:1904019 [epithelial cell apoptotic process]
GO:1904036 [negative regulation of epithelial cell apoptotic process]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
 324 aa
34.9 kDa 		No 0
NKX2-5-202
ENSP00000395378
ENST00000424406
P52952
[Direct mapping] Homeobox protein Nkx-2.5
Show all
A0A0S2Z3K2
[Target identity:100%; Query identity:100%] NK2 transcription factor related locus 5 isoform 2
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Congenital malformations
   Congenital malformations of the circulatory system
   Endocrine and metabolic diseases
   Thyroid gland diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001570 [vasculogenesis]
GO:0001947 [heart looping]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003162 [atrioventricular node development]
GO:0003166 [bundle of His development]
GO:0003180 [aortic valve morphogenesis]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003228 [atrial cardiac muscle tissue development]
GO:0003285 [septum secundum development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription regulator complex]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007507 [heart development]
GO:0007512 [adult heart development]
GO:0008284 [positive regulation of cell population proliferation]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010765 [positive regulation of sodium ion transport]
GO:0010832 [negative regulation of myotube differentiation]
GO:0030097 [hemopoiesis]
GO:0030154 [cell differentiation]
GO:0030878 [thyroid gland development]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035050 [embryonic heart tube development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048536 [spleen development]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055008 [cardiac muscle tissue morphogenesis]
GO:0055013 [cardiac muscle cell development]
GO:0055014 [atrial cardiac muscle cell development]
GO:0055015 [ventricular cardiac muscle cell development]
GO:0055117 [regulation of cardiac muscle contraction]
GO:0060037 [pharyngeal system development]
GO:0060048 [cardiac muscle contraction]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
GO:0060412 [ventricular septum morphogenesis]
GO:0060413 [atrial septum morphogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:1903779 [regulation of cardiac conduction]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
 112 aa
11.7 kDa 		No 0
NKX2-5-203
ENSP00000429905
ENST00000517440
E5RH49
[Direct mapping] Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Congenital malformations
   Congenital malformations of the circulatory system
   Endocrine and metabolic diseases
   Thyroid gland diseases
Show all
GO:0003700 [DNA-binding transcription factor activity]
GO:0005634 [nucleus]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007507 [heart development]
GO:0060048 [cardiac muscle contraction]
GO:1903779 [regulation of cardiac conduction]
Show all
 142 aa
15 kDa 		No 0
NKX2-5-204
ENSP00000427906
ENST00000521848
P52952
[Direct mapping] Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Transcription factors
   Helix-turn-helix domains
Disease related genes
Human disease related genes
   Cardiovascular diseases
   Cardiac diseases
   Congenital malformations
   Congenital malformations of the circulatory system
   Endocrine and metabolic diseases
   Thyroid gland diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000122 [negative regulation of transcription by RNA polymerase II]
GO:0000785 [chromatin]
GO:0000976 [transcription cis-regulatory region binding]
GO:0000978 [RNA polymerase II cis-regulatory region sequence-specific DNA binding]
GO:0000981 [DNA-binding transcription factor activity, RNA polymerase II-specific]
GO:0001216 [DNA-binding transcription activator activity]
GO:0001228 [DNA-binding transcription activator activity, RNA polymerase II-specific]
GO:0001570 [vasculogenesis]
GO:0001947 [heart looping]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003162 [atrioventricular node development]
GO:0003166 [bundle of His development]
GO:0003180 [aortic valve morphogenesis]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003228 [atrial cardiac muscle tissue development]
GO:0003285 [septum secundum development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [DNA-binding transcription factor activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription regulator complex]
GO:0006355 [regulation of DNA-templated transcription]
GO:0006357 [regulation of transcription by RNA polymerase II]
GO:0007507 [heart development]
GO:0007512 [adult heart development]
GO:0008284 [positive regulation of cell population proliferation]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010765 [positive regulation of sodium ion transport]
GO:0010832 [negative regulation of myotube differentiation]
GO:0030097 [hemopoiesis]
GO:0030154 [cell differentiation]
GO:0030878 [thyroid gland development]
GO:0032991 [protein-containing complex]
GO:0032993 [protein-DNA complex]
GO:0035050 [embryonic heart tube development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of DNA-templated transcription]
GO:0045893 [positive regulation of DNA-templated transcription]
GO:0045944 [positive regulation of transcription by RNA polymerase II]
GO:0048536 [spleen development]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055008 [cardiac muscle tissue morphogenesis]
GO:0055013 [cardiac muscle cell development]
GO:0055014 [atrial cardiac muscle cell development]
GO:0055015 [ventricular cardiac muscle cell development]
GO:0055117 [regulation of cardiac muscle contraction]
GO:0060037 [pharyngeal system development]
GO:0060048 [cardiac muscle contraction]
GO:0060261 [positive regulation of transcription initiation by RNA polymerase II]
GO:0060412 [ventricular septum morphogenesis]
GO:0060413 [atrial septum morphogenesis]
GO:0061629 [RNA polymerase II-specific DNA-binding transcription factor binding]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription regulator complex]
GO:1903779 [regulation of cardiac conduction]
GO:1990837 [sequence-specific double-stranded DNA binding]
Show all
 151 aa
16.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.


contact@proteinatlas.org