NKX2-1 - NK2 homeobox 1 Gene
Also Known as BCH; BHC; NK-2; TEBP; TTF1; NKX2A; NMTC1; T/EBP; TITF1; TTF-1; NKX2.1
Species: Homo sapiens
About NKX2-1
This gene has 4 transcripts (splice variants), 204 orthologues, 13 paralogues and is associated with 76 phenotypes. Biased expression in lung (RPKM 35.0) and thyroid (RPKM 29.1).
Summary
This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid Cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Feb 2014]
NKX2-1 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001079668.3 | NP_001073136.1 | homeobox protein Nkx-2.1 isoform 1 |
| NM_003317.4 | NP_003308.1 | homeobox protein Nkx-2.1 isoform 2 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
7713914 | GOA |
| part of transcription regulator complex |
IPI
IPI: Inferred from physical interaction
|
25060702 | GOA |
NKX2-1 Protein Structure
Homeobox: Homeobox domain (192 - 248)
- 0
- 100
- 200
- 300
- 401 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
homeobox protein Nkx-2.1 |
|
NKX2-1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
NKX2-1 | P43699 | CCDC59 | Homo sapiens | Q9P031 | 11152647 | |
|
Intra
|
NKX2-1 | P43699 | CCDC59 | Homo sapiens | Q9P031 | 11152647 | |
|
Intra
|
NKX2-1 | P43699 | NCK1 | Homo sapiens | P16333 | 17474147 |
NKX2-1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82552 | TTF-1 Antibody (YA2297) | WB, ICC/IF | Human, Hamster |
| HY-P82552A | TTF-1 Antibody (YA2297)(PBS only) | WB, ICC/IF | Human, Hamster |
| HY-P85945 | TTF-1 Antibody (YA5637) | IHC-P, WB, ICC/IF, ELISA | Human, Mouse, Rat |
| HY-P86155 | TTF-1 Antibody (YA5847) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
| HY-P86917 | TTF-1 Antibody (YA6610) | WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, mIHC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Chorea, Benign Hereditary |
|
|
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
|
| Thyroid Cancer, Nonmedullary, 1 |
|
|
| Nkx2-1-Related Disorders |
|
|
| Large Cell Carcinoma |
|
|
| Papillary Adenocarcinoma |
|
|
| Hypothyroidism |
|
|
| Struma Ovarii |
|
|
| Pulmonary Sclerosing Hemangioma |
|
|
| Carcinoid Tumors, Intestinal |
|
|
| Lung Benign Neoplasm |
|
|
| Bronchiolo-Alveolar Adenocarcinoma |
|
|
| Sclerosing Hemangioma |
|
|
| Pulmonary Blastoma |
|
|
| Congenital Hypothyroidism |
|
|
| Merkel Cell Carcinoma |
|
|
| Blastoma |
|
|
| Thymus Cancer |
|
|
| Neuroendocrine Carcinoma |
|
|
| Papillary Carcinoma |
|
|
| Athyreosis |
|
|
| Thymic Carcinoma |
|
|
| Athetosis |
|
|
| Thyroid Gland Cancer |
|
|
| Posterior Pituitary Gland Neoplasm |
|
|
| Bronchial Mucus Gland Adenoma |
|
|
| Bronchial Benign Neoplasm |
|
|
| Hemangioma |
|
|
| Alveoli Adenoma |
|
|
| Goiter |
|
|
| Trachea Carcinoma |
|
|
| Intestinal Perforation |
|
|
| Neurohypophysis Granular Cell Tumor |
|
|
| Mucinous Bronchioloalveolar Adenocarcinoma |
|
|
| Pleomorphic Carcinoma |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Ovarian Germ Cell Teratoma |
|
|
| Differentiated Thyroid Carcinoma |
|
|
| Frontal Sinus Cancer |
|
|
| Frontal Sinus Squamous Cell Carcinoma |
|
|
| Lung Cancer |
|
|
| Thyroglossal Duct Cyst, Familial |
|
|
| Plasma Cell Neoplasm |
|
|
| Mucinous Lung Adenocarcinoma |
|
|
| Papillary Thyroid Microcarcinoma |
|
|
| Adenosquamous Carcinoma |
|
|
| Larynx Sarcoma |
|
|
| Benign Mesothelioma |
|
|
| Pneumothorax |
|
|
| Respiratory Failure |
|
|
| Teratoma |
|
|
| Follicular Adenoma |
|
|
| Adenomatoid Tumor |
|
|
| Granular Cell Tumor |
|
|
| Thymoma |
|
|
| Nonmucinous Bronchioloalveolar Adenocarcinoma |
|
|
| Mesothelioma, Malignant |
|
|
| Third Ventricle Chordoid Glioma |
|
|
| Newborn Respiratory Distress Syndrome |
|
|
| Papillary Adenoma |
|
|
| Small Cell Cancer Of The Lung |
|
|
| Respiratory System Benign Neoplasm |
|
|
| Myeloma, Multiple |
|
|
| Adenocarcinoma |
|
|
| Lung Disease |
|
|
| Large Cell Neuroendocrine Carcinoma |
|
|
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
|
| Bronchus Adenoma |
|
|
| Lung Large Cell Carcinoma |
|
|
| Diaphragmatic Hernia, Congenital |
|
|
| Benign Teratoma |
|
|
| Neonatal Respiratory Failure |
|
|
| Neuroendocrine Tumor |
|
|
| Thyroid Malformation |
|
|
| Solid Adenocarcinoma With Mucin Production |
|
|
| Sex Cord-Gonadal Stromal Tumor |
|
|
| Sternum Cancer |
|
|
| Sternum Lymphoma |
|
|
| Lung Meningioma |
|
|
| Malignant Struma Ovarii |
|
|
| Lung Papillary Adenocarcinoma |
|
|
| Thyroid Carcinoma, Familial Medullary |
|
|
| Keratinizing Squamous Cell Carcinoma |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Lung Sarcomatoid Carcinoma |
|
|
| Patent Foramen Ovale |
|
|
| Chordoid Glioma |
|
|
| Paraganglioma |
|
|
| Dystonia |
|
|
| Spindle Epithelial Tumor With Thymus-Like Differentiation Tumor |
|
|
| Lung Acinar Adenocarcinoma |
|
|
| Small Cell Carcinoma |
|
|
| Main Bronchus Cancer |
|
|
| Lung Giant Cell Carcinoma |
|
|
| Mucinous Adenocarcinoma |
|
|
| Ureter Small Cell Carcinoma |
|
|
| Salivary Gland Carcinoma |
|
|
| Pulmonary Neuroendocrine Tumor |
|
|
| Lung Carcinoma In Situ |
|
|
| Pulmonary Large Cell Neuroendocrine Carcinoma |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Thymus Basaloid Carcinoma |
|
|
| Squamous Cell Carcinoma |
|
|
| Aortic Malignant Tumor |
|
|
| Thymus Clear Cell Carcinoma |
|
|
| Glioblastoma Neural Subtype |
|
|
| Movement Disease |
|
|
| Ureter Adenocarcinoma |
|
|
| Adenocarcinoma In Situ |
|
|
| Choreatic Disease |
|
|
| Nasal Cavity Olfactory Neuroblastoma |
|
|
| Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate |
|
|
| Tracheal Disease |
|
|
| Tall Cell Variant Papillary Carcinoma |
|
|
| Basaloid Squamous Cell Carcinoma |
|
|
| Thyroid Gland Follicular Carcinoma |
|
|
| Tracheomalacia |
|
|
| Pulmonary Adenocarcinoma In Situ |
|
|
| Cystic Teratoma |
|
|
| Lymphangitis |
|
|
| Multinodular Goiter |
|
|
| Ectopic Thymus |
|
|
| Interstitial Lung Disease |
|
|
| Thyroid Dyshormonogenesis 2a |
|
|
| Ovarian Cystic Teratoma |
|
|
| Thyroid Gland Disease |
|
|
| Restless Legs Syndrome |
|
|
| Ovary Leiomyosarcoma |
|
|
| Mediastinal Cancer |
|
|
| Tracheal Stenosis |
|
|
| Carotid Body Cancer |
|
|
| Laryngeal Small Cell Carcinoma |
|
|
| Thyroid Gland Medullary Carcinoma |
|
|
| Cerebral Palsy |
|
|
| Laryngeal Neuroendocrine Tumor |
|
|
| Retinal Melanoma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Lung Clear Cell Carcinoma |
|
|
| Lung Adenoma |
|
|
| Mixed Lacrimal Gland Cancer |
|
|
| Lymphohistiocytoid Mesothelioma |
|
|
| Mowat-Wilson Syndrome |
|
|
| Colorectal Cancer |
|
|
| Esophageal Atresia |
|
|
| Breast Cancer |
|
|
| Hirschsprung Disease 1 |
|
|
| Wilms Tumor 1 |
|
|
| Congenital Nervous System Abnormality |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Mus musculus | NKX2-1 | MGD | MGI:108067 |
| Rattus norvegicus | NKX2-1 | RGD | RGD:3866 |
| Bos taurus | NKX2-1 | VGNC | VGNC:49980 |
| Macaca mulatta | NKX2-1 | VGNC | VGNC:84409 |
| Felis catus | NKX2-1 | VGNC | VGNC:80906 |
| Others | NKX2-1 | NCBI |