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NKX2-5

GENERAL INFORMATION

Gene name

 NKX2-5

Gene description

 NK2 homeobox 5

Protein class

 Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 4
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (heart muscle, spleen)
GTEx:Group enriched (heart muscle, spleen)
FANTOM5:Tissue enriched (heart muscle)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, spleen)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (heart muscle, spleen)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (heart muscle)

GENE INFORMATION

Gene name

 NKX2-5 (HGNC Symbol)

Synonyms

 CSX, CSX1, NKX2.5, NKX2E, NKX4-1

Description

 NK2 homeobox 5 (HGNC Symbol)

Entrez gene 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, 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]

Chromosome

 5

Cytoband

 q35.1

Chromosome location (bp)

 173232109 - 173235357

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000183072 (version 83.38)

Entrez gene

 1482

UniProt

 P52952 (UniProt - Evidence at protein level)

neXtProt

 NX_P52952

Antibodypedia

 NKX2-5 antibodies

PROTEIN BROWSER
NKX2-5-001
NKX2-5-002
NKX2-5-003
NKX2-5-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
NKX2-5-001
ENSP00000327758
ENST00000329198
P52952 [Direct mapping]
Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001104 [RNA polymerase II transcription cofactor activity]
GO:0001190 [transcriptional activator activity, RNA polymerase II transcription factor binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
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:0003208 [cardiac ventricle morphogenesis]
GO:0003211 [cardiac ventricle formation]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003222 [ventricular trabecula myocardium morphogenesis]
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 [transcription factor activity, sequence-specific DNA binding]
GO:0003705 [transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007507 [heart development]
GO:0007512 [adult heart development]
GO:0008134 [transcription factor binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010628 [positive regulation of gene expression]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010735 [positive regulation of transcription via serum response element binding]
GO:0010736 [serum response element binding]
GO:0010765 [positive regulation of sodium ion transport]
GO:0010832 [negative regulation of myotube differentiation]
GO:0030097 [hemopoiesis]
GO:0030154 [cell differentiation]
GO:0030509 [BMP signaling pathway]
GO:0030878 [thyroid gland development]
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:0044212 [transcription regulatory region DNA binding]
GO:0045214 [sarcomere organization]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048536 [spleen development]
GO:0048738 [cardiac muscle tissue development]
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: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:0060070 [canonical Wnt signaling pathway]
GO:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
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:0072358 [cardiovascular system development]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1903779 [regulation of cardiac conduction]
Show all
 324 aa
34.9 kDa 		No 0
NKX2-5-002
ENSP00000429905
ENST00000517440
E5RH49 [Direct mapping]
Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
Show all
 142 aa
15 kDa 		No 0
NKX2-5-003
ENSP00000395378
ENST00000424406
P52952 [Direct mapping]
Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001570 [vasculogenesis]
GO:0001947 [heart looping]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003285 [septum secundum development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007512 [adult heart development]
GO:0008134 [transcription factor binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010735 [positive regulation of transcription via serum response element binding]
GO:0010736 [serum response element binding]
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:0035050 [embryonic heart tube development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048536 [spleen development]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055007 [cardiac muscle cell differentiation]
GO:0055008 [cardiac muscle tissue morphogenesis]
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:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
GO:0060412 [ventricular septum morphogenesis]
GO:0060413 [atrial septum morphogenesis]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1903779 [regulation of cardiac conduction]
Show all
 112 aa
11.7 kDa 		No 0
NKX2-5-004
ENSP00000427906
ENST00000521848
P52952 [Direct mapping]
Homeobox protein Nkx-2.5
Show all
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Disease related genes
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001570 [vasculogenesis]
GO:0001947 [heart looping]
GO:0003007 [heart morphogenesis]
GO:0003148 [outflow tract septum morphogenesis]
GO:0003161 [cardiac conduction system development]
GO:0003221 [right ventricular cardiac muscle tissue morphogenesis]
GO:0003285 [septum secundum development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0007512 [adult heart development]
GO:0008134 [transcription factor binding]
GO:0008284 [positive regulation of cell proliferation]
GO:0010667 [negative regulation of cardiac muscle cell apoptotic process]
GO:0010735 [positive regulation of transcription via serum response element binding]
GO:0010736 [serum response element binding]
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:0035050 [embryonic heart tube development]
GO:0043066 [negative regulation of apoptotic process]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045823 [positive regulation of heart contraction]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046982 [protein heterodimerization activity]
GO:0048536 [spleen development]
GO:0051891 [positive regulation of cardioblast differentiation]
GO:0055007 [cardiac muscle cell differentiation]
GO:0055008 [cardiac muscle tissue morphogenesis]
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:0060261 [positive regulation of transcription initiation from RNA polymerase II promoter]
GO:0060412 [ventricular septum morphogenesis]
GO:0060413 [atrial septum morphogenesis]
GO:0090090 [negative regulation of canonical Wnt signaling pathway]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1903779 [regulation of cardiac conduction]
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.