NKX2-5 - NK2 homeobox 5 Gene
Also Known as CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1
生物種: Homo sapiens
About NKX2-5
This gene has 4 transcripts (splice variants), 203 orthologues, 13 paralogues and is associated with 21 phenotypes. Restricted expression toward heart (RPKM 9.4).
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]
NKX2-5 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001166175.2 | NP_001159647.1 | homeobox protein Nkx-2.5 isoform 2 |
| NM_001166176.2 | NP_001159648.1 | homeobox protein Nkx-2.5 isoform 3 |
| NM_004387.4 | NP_004378.1 | homeobox protein Nkx-2.5 isoform 1 |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| part of Nkx-2.5 complex |
IPI
IPI: Inferred from physical interaction
|
22849347 | GOA |
| part of RNA polymerase II transcription regulator complex |
IDA
IDA: Inferred from direct assay
|
9312027 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
9858576 | GOA |
| part of protein-DNA complex |
IDA
IDA: Inferred from direct assay
|
22849347 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
26926761 | GOA |
NKX2-5 Protein Structure
Homeobox: Homeobox domain (139 - 195)
- 0
- 100
- 200
- 300
- 324 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein Nkx-2.5 |
|
NKX2-5 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
NKX2-5 | P52952 | KRTAP8-1 | Homo sapiens | Q8IUC2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | KRTAP8-1 | Homo sapiens | Q8IUC2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | KRTAP8-1 | Homo sapiens | Q8IUC2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | SHOX | Homo sapiens | O15266-2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | SHOX | Homo sapiens | O15266-2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | TBX5 | Homo sapiens | Q99593-1 | 11431700 | |
|
Intra
|
NKX2-5 | P52952 | TBX5 | Homo sapiens | Q99593-1 | 11431700 | |
|
Intra
|
NKX2-5 | P52952 | TBX5 | Homo sapiens | Q99593-1 | 11431700 | |
|
Intra
|
NKX2-5 | P52952 | TBX5 | Homo sapiens | Q99593-1 | 11431700 | |
|
Intra
|
NKX2-5 | P52952 | TRIP10 | Homo sapiens | Q15642-2 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | GATA4 | Homo sapiens | P43694 | 10075728 | |
|
Intra
|
NKX2-5 | P52952 | RBPMS | Homo sapiens | Q93062-3 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | RBPMS | Homo sapiens | Q93062-3 | 32296183 | |
|
Intra
|
NKX2-5 | P52952 | RBPMS | Homo sapiens | Q93062-3 | 32296183 | |
|
Cross
|
NKX2-5 | P52952 | Fblim1 | Mus musculus | Q71FD7 | 14757752 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
|
| Ventricular Septal Defect 3 |
|
|
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
|
| Hypoplastic Left Heart Syndrome 2 |
|
|
| Tetralogy Of Fallot |
|
|
| Atrial Heart Septal Defect 7 |
|
|
| Conotruncal Heart Malformations |
|
|
| Heart Disease |
|
|
| Double Outlet Right Ventricle |
|
|
| Atrial Heart Septal Defect |
|
|
| Aortic Arch Interruption |
|
|
| Thyroid Ectopia |
|
|
| Athyreosis |
|
|
| Asplenia, Isolated Congenital |
|
|
| Interatrial Communication |
|
|
| Left Ventricular Noncompaction |
|
|
| Patent Foramen Ovale |
|
|
| Aortic Valve Disease 1 |
|
|
| Familial Atrial Fibrillation |
|
|
| Dilated Cardiomyopathy |
|
|
| Hypoplastic Left Heart Syndrome |
|
|
| Deletion 5q35 |
|
|
| Heart Septal Defect |
|
|
| Atrioventricular Block |
|
|
| Ventricular Septal Defect |
|
|
| Familial Progressive Cardiac Conduction Defect |
|
|
| Ebstein Anomaly |
|
|
| Holt-Oram Syndrome |
|
|
| Hypothyroidism |
|
|
| Congenital Hypothyroidism |
|
|
| Atrioventricular Septal Defect |
|
|
| Pyloric Stenosis |
|
|
| Ciliary Dyskinesia, Primary, 40 |
|
|
| Syndromic X-Linked Intellectual Disability 34 |
|
|
| Wolff-Parkinson-White Syndrome |
|
|
| Hypoplastic Right Heart Syndrome |
|
|
| Tricuspid Atresia |
|
|
| Hypertrophic Pyloric Stenosis |
|
|
| Tricuspid Valve Disease |
|
|
| Thyroid Malformation |
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
|
| Ovarian Endodermal Sinus Tumor |
|
|
| Physical Disorder |
|
|
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Jacobsen Syndrome |
|
|
| Ovarian Primitive Germ Cell Tumor |
|
|
| Myasthenic Syndrome, Congenital, 15 |
|
|
| Pulmonary Valve Disease |
|
|
| Pulmonary Valve Stenosis |
|
|
| Pulmonary Hypertension |
|
|
| Transposition Of The Great Arteries, Dextro-Looped |
|
|
| Atrial Septal Defect 5 |
|
|
| Subvalvular Aortic Stenosis |
|
|
| Atrial Septal Defect 2 |
|
|
| Patau Syndrome |
|
|
| Sinoatrial Node Disease |
|
|
| Ulnar-Mammary Syndrome |
|
|
| Tricuspid Valve Stenosis |
|
|
| Right Atrial Isomerism |
|
|
| Orofaciodigital Syndrome Viii |
|
|
| Fanconi Renotubular Syndrome 1 |
|
|
| Pulmonary Valve Insufficiency |
|
|
| Endocardial Fibroelastosis |
|
|
| Germ Cell And Embryonal Cancer |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Aortic Valve Insufficiency |
|
|
| Intrinsic Cardiomyopathy |
|
|
| Heart Valve Disease |
|
|
| Chromosomal Deletion Syndrome |
|
|
| Germ Cell Cancer |
|
|
| Wolf-Hirschhorn Syndrome |
|
|
| Axenfeld-Rieger Syndrome |
|
|
| Noonan Syndrome With Multiple Lentigines |
|
|
| Heart Conduction Disease |
|
|
| Aortic Valve Disease 2 |
|
|
| Rasopathy |
|
|
| Velocardiofacial Syndrome |
|
|
| Chromosome 1p36 Deletion Syndrome |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
| Kabuki Syndrome 1 |
|
|
| Brugada Syndrome |
|
|
| Orthostatic Intolerance |
|
|
| Long Qt Syndrome |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Long Qt Syndrome 1 |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Visceral Heterotaxy |
|
|
| Williams-Beuren Syndrome |
|
|
| Noonan Syndrome 1 |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Mus musculus | NKX2-5 | MGD | MGI:97350 |
| Bos taurus | NKX2-5 | VGNC | VGNC:32102 |
| Felis catus | NKX2-5 | VGNC | VGNC:63817 |
| Macaca mulatta | NKX2-5 | VGNC | VGNC:110448 |
| Rattus norvegicus | NKX2-5 | RGD | RGD:620520 |
| Canis familiaris | NKX2-5 | VGNC | VGNC:43834 |
| Others | NKX2-5 | NCBI |