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

Gene Type: protein coding
Gene ID: 7080

About NKX2-1

Cytogenetic location: 14q13.3 Genomic coordinates (GRCh38): 14:36,516,397-36,520,232 (from NCBI)

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
Molecular Function GO Annotation Evidence References Source
enables DNA binding IMP
IMP: Inferred from mutant phenotype
7635972 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
7559607 GOA
enables DNA-binding transcription factor activity IMP
IMP: Inferred from mutant phenotype
19176457 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23143308 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
17220277 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
23382074 GOA
enables intronic transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23143308 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
11152647 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
1735431 GOA
enables transcription cis-regulatory region binding IMP
IMP: Inferred from mutant phenotype
19176457 GOA
Biological Process GO Annotation Evidence References Source
involved in brain development IMP
IMP: Inferred from mutant phenotype
11971878 GOA
involved in epithelial tube branching involved in lung morphogenesis IEP
IEP: Inferred from expression pattern
8675988 GOA
involved in forebrain development IEP
IEP: Inferred from expression pattern
15494458 GOA
involved in globus pallidus development IMP
IMP: Inferred from mutant phenotype
11854319 GOA
involved in lung development IEP
IEP: Inferred from expression pattern
15494458 GOA
involved in negative regulation of cell migration IDA
IDA: Inferred from direct assay
19293183 GOA
involved in negative regulation of epithelial to mesenchymal transition IDA
IDA: Inferred from direct assay
19293183 GOA
acts upstream of or within negative regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
23143308 GOA
involved in negative regulation of transforming growth factor beta receptor signaling pathway IDA
IDA: Inferred from direct assay
19293183 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
14960358 GOA
involved in positive regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
19176457 GOA
involved in positive regulation of gene expression IDA
IDA: Inferred from direct assay
16960125 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
7559607 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
25060702 GOA
involved in response to hormone IEP
IEP: Inferred from expression pattern
16960125 GOA
involved in thyroid gland development IEP
IEP: Inferred from expression pattern
15494458 GOA
involved in thyroid gland development IMP
IMP: Inferred from mutant phenotype
11854319 GOA
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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

NKX2-1 Protein Structure

Homeobox

Homeobox: Homeobox domain (192 - 248)

  • 0
  • 100
  • 200
  • 300
  • 401 a.a.
Protein Preferred Names Protein Names

homeobox protein Nkx-2.1

  • NK-2 homolog A

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
Y2H
11152647
Intra
NKX2-1 P43699 CCDC59 Homo sapiens Q9P031 11152647
Intra
NKX2-1 P43699 NCK1 Homo sapiens P16333 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

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
  • Benign Hereditary Chorea

  • BHC

  • Chorea, Hereditary Benign

  • Benign Familial Chorea

  • Bch

  • Hereditary Progressive Chorea Without Dementia

  • Chorea Familial Benign

  • Hereditary Chorea Without Dementia

  • Chorea Benign Hereditary

  • Bche Deficiency

  • Chorea, Hereditary, Benign

  • Chorea, Benign Familial

Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
  • Brain-Lung-Thyroid Syndrome

  • Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

  • CAHTP

  • Blt Syndrome

  • Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress Syndrome

  • Choreoathetosis-Hypothyroidism-Neonatal Respiratory Distress

  • Brain-Thyroid-Lung Syndrome

  • Chreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction

Thyroid Cancer, Nonmedullary, 1
  • Papillary Thyroid Carcinoma

  • Familial Nonmedullary Thyroid Cancer, Papillary

  • Nonmedullary Thyroid Carcinoma, Papillary

  • Papillary Thyroid Cancer

  • NMTC1

  • Papillary Carcinoma Of Thyroid

  • Pact

  • Thyroid Carcinoma, Papillary

  • Non-Medullary Thyroid Carcinoma

  • Thyroid Cancer, Non-Medullary, 1

  • Familial Non-Medullary Thyroid Cancer

  • Fnmtc

  • Nmtc

  • Nonmedullary Thyroid Carcinoma

  • Ptc

  • Tpc

  • Thyroid Papillary Carcinoma

  • Cancer, Thyroid, Nonmedullary

  • Cancer, Thyroid, Nonmedullary, Type 1

  • Thyroid Carcinoma, Nonmedullary 1

  • Familial Nonmedullary Thyroid Gland Carcinoma

  • Papillary Carcinoma, Diffuse Sclerosing, Thyroid Gland

Nkx2-1-Related Disorders
  • Nkx2-1-Related Disorder

Large Cell Carcinoma
  • Carcinoma, Large Cell

  • Carcinoma Large Cell

Papillary Adenocarcinoma
  • Infiltrating And Papillary Adenocarcinoma

  • Infiltrating Papillary Adenocarcinoma

  • Adenocarcinoma Papillary

  • Adenocarcinoma, Papillary

Hypothyroidism
  • Thyroid Diseases

  • Thyroid Disease

  • Thyroid Deficiency

  • Thyroid Insufficiency

  • Dysfunction Thyroid

  • Thyroid Dysfunction

Struma Ovarii
Pulmonary Sclerosing Hemangioma
  • Pneumocytoma

Carcinoid Tumors, Intestinal
  • Carcinoid

  • Gastrointestinal Carcinoid Tumor

  • Argentaffinoma

  • Intestinal Carcinoid Tumor

  • ICT

  • Tumor, Carcinoid, Intestinal

  • Malignant Carcinoid Syndrome

  • Carcinoid Tumor Of Intestine

  • Carcinoid Tumor

  • Carcinoid Tumor No Icd-O Subtype

Lung Benign Neoplasm
  • Lung Neoplasms

  • Tumor Of The Lung

  • Lung Tumor

Bronchiolo-Alveolar Adenocarcinoma
  • Bronchioloalveolar Carcinoma

  • Bronchioalveolar Lung Carcinoma

  • Minimally Invasive Lung Adenocarcinoma

  • Carcinoma Bronchioloalveolar

  • Adenocarcinoma, Bronchiolo-Alveolar

  • Bronchioloalveolar Adenocarcinoma

Sclerosing Hemangioma
  • Sclerosing Haemangioma

  • Cutaneous Fibrous Histiocytoma

Pulmonary Blastoma
  • Blastoma Of Lung

  • Pneumoblastoma

Congenital Hypothyroidism
  • Cretinism

  • Neonatal Hypothyroidism

  • Ch

  • Cht

  • Congenital Myxedema

  • Myxedema, Congenital

  • Endemic Cretinism

  • Congenital Iodine-Deficiency Syndrome

  • Fetal Iodine Deficiency Syndrome

  • Congenital Iodine-Deficiency Hypothyroidism Nos

Merkel Cell Carcinoma
  • Trabecular Adenocarcinoma

  • Cutaneous Neuroendocrine Carcinoma

  • Trabecular Carcinoma

  • Carcinoma, Merkel Cell

  • Merkel Cell Cancer

  • Merkle Tumors

  • Mcc

  • Carcinoma Merkel Cell

Blastoma
  • Embryoma

Thymus Cancer
  • Thymic Neoplasm

  • Thymic Tumor

  • Thymus Neoplasm

  • Thymus Neoplasms

  • Malignant Neoplasm Of Thymus

  • Neoplasm Of Thymus

  • Thymic Neoplasms

  • Thymoma, Familial

  • Thymic Carcinoma

  • Thymoma, Type C

  • Cancer Of Thymus

  • Malignant Tumour Of Thymus

  • Primary Malignant Neoplasm Of Thymus

  • Thymic Glandular Cancer

  • Thymus Gland Cancer

Neuroendocrine Carcinoma
  • Neuroendocrine Cancer

  • Carcinoma Neuroendocrine

  • Carcinoma, Neuroendocrine

Papillary Carcinoma
  • Carcinoma, Papillary

  • Carcinoma Papillary

Athyreosis
Thymic Carcinoma
  • Malignant Thymoma

  • Thymoma, Malignant

Athetosis
Thyroid Gland Cancer
  • Thyroid Gland Carcinoma

  • Malignant Neoplasm Of Thyroid Gland

  • Malignant Tumour Of Thyroid Gland

  • Thyroid Neoplasm

  • Thyroid Neoplasms

  • Neoplasm Of Thyroid Gland

  • Thyroid Gland Neoplasm

  • Head And Neck Cancer, Thyroid

  • Neoplasm Of The Thyroid Gland

  • Cancer Of The Thyroid

  • Primary Malignant Neoplasm Of Thyroglossal Duct

  • Malignant Neoplasm Of Thyroglossal Duct

  • Primary Malignant Neoplasm Of Thyroid Gland

  • Thyroglossal Duct Cancer

  • Toxic Goitre Malignant Tumour

  • Cancerous Goitre

Posterior Pituitary Gland Neoplasm
  • Posterior Pituitary Tumor

  • Neoplasm Of The Posterior Pituitary

Bronchial Mucus Gland Adenoma
  • Adenoma Of Bronchial Mucus Gland

  • Adenoma Of The Bronchial Mucus Gland

Bronchial Benign Neoplasm
  • Bronchus Neoplasm

  • Neoplasm Of Bronchus

  • Bronchial Neoplasms

  • Bronchial Neoplasm

Hemangioma
  • Hemangiomas

Alveoli Adenoma
  • Alveolar Adenoma

  • Adenoma Of Alveoli

  • Adenoma Of The Alveoli

Goiter
  • Goitre

Trachea Carcinoma
  • Pancoast Tumor

  • Carcinoma Of The Trachea

  • Pancoast'S Tumor

  • Malignant Superior Sulcus Tumor

  • Malignant Superior Sulcus Tumour

  • Pancoast Tumour

  • Pancoast'S Syndrome

  • Pancoast'S Tumour

  • Pulmonary Sulcus Tumor

  • Pulmonary Sulcus Tumour

  • Superior Pulmonary Sulcus Syndrome

  • Pancoast Syndrome

Intestinal Perforation
  • Perforation Of Intestine

Neurohypophysis Granular Cell Tumor
  • Granular Cell Tumor Of The Neurohypophysis

Mucinous Bronchioloalveolar Adenocarcinoma
  • Bronchiolo-Alveolar Carcinoma, Mucinous

Pleomorphic Carcinoma
Thyroid Gland Anaplastic Carcinoma
  • Anaplastic Thyroid Carcinoma

  • Anaplastic Thyroid Cancer

  • Thyroid Cancer, Anaplastic

  • Thyroid Carcinoma, Anaplastic

  • Thyroid Carcinoma Anaplastic

Ovarian Germ Cell Teratoma
  • Germ Cell Teratoma Of Ovary

  • Ovarian Teratoma

Differentiated Thyroid Carcinoma
  • Papillary Or Follicular Thyroid Carcinoma

  • Well-Differentiated Thyroid Carcinoma

  • Differentiated Thyroid Gland Carcinoma

Frontal Sinus Cancer
  • Malignant Neoplasm Of Frontal Sinus

  • Malignant Tumor Of Frontal Sinus

  • Malignant Tumor Of The Frontal Sinus

  • Neoplasm Of Frontal Sinus

Frontal Sinus Squamous Cell Carcinoma
  • Epidermoid Carcinoma Of The Frontal Sinus

Lung Cancer
  • Lung Carcinoma

  • Non-Small Cell Lung Carcinoma

  • Lung Cancer, Susceptibility To

  • Lung Cancer, Protection Against

  • Adenocarcinoma Of Lung, Somatic

  • Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer

  • Lung Neoplasm

  • Carcinoma Of Lung

  • Lung Non-Small Cell Carcinoma

  • Non-Small Cell Lung Cancer

  • Nsclc

  • Lung Neoplasms

  • Malignant Neoplasm Of Lung

  • Alveolar Cell Carcinoma

  • Nonsmall Cell Lung Cancer, Somatic

  • Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

  • Nonsmall Cell Lung Cancer, Susceptibility To

  • Lung Cancer, Somatic

  • Lung Cancer, Resistance To

  • Cancer Of Lung

  • Cancer Of Bronchus

  • Cancer Of The Lung

  • Lung Malignancies

  • Lung Malignant Tumors

  • Malignant Lung Tumor

  • Malignant Tumor Of Lung

  • Pulmonary Cancer

  • Pulmonary Carcinoma

  • Pulmonary Neoplasms

  • Respiratory Carcinoma

  • LNCR

  • Adenocarcinoma Of Lung

  • Neoplasm Of Lung

  • Cancer Lung

  • Carcinoma Non-Small Cell Lung

  • Carcinoma, Non-Small-Cell Lung

  • Lung Cancers

  • Lung Carcinomas

  • Cancer, Lung

  • Cancer, Lung, Non-Small Cell

  • Primary Malignant Neoplasm Of Lung

  • Bronchioloalveolar Adenocarcinoma

Thyroglossal Duct Cyst, Familial
  • Familial Thyroglossal Duct Cyst

  • Thyroglossal Duct Cyst

  • Hereditary Thyroglossal Duct Cysts

  • Thyroglossal Duct Cysts

  • Thyroglossal Duct Cysts Familial

  • Thyroglossal Cyst

Plasma Cell Neoplasm
  • Plasma Cell Dyscrasia

  • Paraproteinemias

  • Plasma Cell Tumour

  • Plasmacytic Tumor

  • Multiple Myeloma

  • Plasmacytoma

  • Plasma Cell Tumours

  • Plasma Cells Dyscrasia

Mucinous Lung Adenocarcinoma
Papillary Thyroid Microcarcinoma
Adenosquamous Carcinoma
  • Adenosquamous Cell Carcinoma

  • Mixed Adenocarcinoma And Squamous Carcinoma

  • Carcinoma Adenosquamous

  • Carcinoma, Adenosquamous

Larynx Sarcoma
  • Sarcoma Of Larynx

  • Laryngeal Sarcoma

Benign Mesothelioma
  • Mesothelioma

  • Benign Tumor Of Mesothelium

  • Adenomatoid Tumor

Pneumothorax
  • Pneumothorax Nos

  • Air Leak Nos

  • Pleural Air Leak Nos

Respiratory Failure
  • Acute Respiratory Failure

  • Chronic Respiratory Failure

  • Respiratory Insufficiency

  • Acute-On-Chronic Respiratory Failure

  • Respiratory Disease

  • Acute And Chronic Respiratory Failure

  • Respiratory Insufficiency/Failure

  • Chronic Respiratory Disease

  • Pulmonary Valve Insufficiency

  • Chronic Disease Of Respiratory System

  • Respiration Disorders

  • Respiratory Tract Diseases

  • Lung Failure Nos

  • Pulmonary Failure

  • Arf - [Acute Respiratory Failure]

  • Acute Respiratory Insufficiency

  • Acute Pulmonary Insufficiency

  • Acute Respiration Failure

  • Chronic Respiration Failure

Teratoma
  • Teratomas

Follicular Adenoma
  • Follicular Adenoma Of The Thyroid Gland

  • Thyroid Follicular Adenoma

  • Adenoma Follicular

  • Follicular Thyroid Adenoma

  • Thyroid Gland Follicular Adenoma

Adenomatoid Tumor
  • Adenomatoid Tumour

  • Benign Localised Epithelial Mesothelioma

  • Benign Localized Epithelial Mesothelioma

Granular Cell Tumor
  • Abrikosov'S Tumor

  • Neoplasm Of Granular Cell

  • Abrikosoff'S Granulous Cell Tumor

  • Abrikosoff'S Tumor

  • Giant Granulocellular Abrikosov'S Tumor

  • Malignant Variant Of Abrikosov'S Tumor

  • Carcinoma, Granular Cell

Thymoma
  • Primary Thymic Epithelial Neoplasm

  • Primary Thymic Epithelial Tumor

  • Thymus Neoplasms

Nonmucinous Bronchioloalveolar Adenocarcinoma
Mesothelioma, Malignant
  • Malignant Mesothelioma

  • Pleural Mesothelioma

  • MESOM

  • Mesothelioma, Somatic

  • Advanced Malignant Mesothelioma

  • Asbestos-Related Malignant Mesothelioma

  • Diffuse Malignant Mesothelioma

  • Malignant Tumor Of Mesothelium

  • Malignant Mesothelioma, Susceptibility To

  • Mesothelioma Diffuse Malignant

  • Mesothelioma

  • Malignant Pleural Mesothelioma

Third Ventricle Chordoid Glioma
  • Chordoid Glioma Of The Third Ventricle

  • Chordoid Glioma Of 3rd Ventricle

  • Chordoid Glioma Of Third Ventricle

Newborn Respiratory Distress Syndrome
  • Hyaline Membrane Disease

  • Respiratory Distress Syndrome Of Newborn

  • Neonatal Respiratory Distress

  • Hmd - Hyaline Membrane Disease

  • Neonatal Respiratory Distress Syndrome

  • Pulmonary Hyaline Membrane Disease

  • Pulmonary Hypoperfusion Syndrome Of Newborn

  • Respiratory Distress Syndrome, Newborn

  • Respiratory Distress Syndrome

  • Cardiorespiratory Distress Syndrome Of Newborn

  • Distress Respiratory Syndrome Newborn

  • Idiopathic Respiratory Distress Syndrome

  • Idiopathic Respiratory Distress Syndrome Of Newborn

  • Newborn Idiopathic Respiratory Distress Syndrome

  • Respiratory Distress Syndrome In Newborn

  • Rds - [Respiratory Distress Syndrome] Of Newborn

  • Newborn Cardiorespiratory Distress Syndrome

Papillary Adenoma
  • Glandular Papilloma

  • Adenoma

Small Cell Cancer Of The Lung
  • Small Cell Lung Cancer

  • Small Cell Lung Carcinoma

  • Sclc

  • Small-Cell Cancer Of Lung

  • Lung Small Cell Carcinoma

  • Sclc1

  • Sccl

  • Cancer, Lung, Small Cell

  • Small Cell Carcinoma Of Lung

  • Carcinoma, Small Cell

Respiratory System Benign Neoplasm
Myeloma, Multiple
  • Multiple Myeloma

  • Plasma Cell Myeloma

  • Kahler Disease

  • Myelomatosis

  • Medullary Plasmacytoma

  • Multiple Myeloma, Resistance To

  • Myeloma

  • Plasma Cell Dyscrasia

  • Kahler'S Disease

  • Multiple Myeloma, Susceptibility To

  • Myeloma - Multiple

  • Kahler-Bozzolo Disease

  • Plasma Cell Myelomas

  • MM

  • Plasma Cell Neoplasm

  • Primary Systemic Amyloidosis

  • Primary Amyloidosis

  • Immunoglobulin Deposition Disease

  • Plasmacytic Myeloma

  • Multiple Myelomata

  • Multiple Myeloma Nos

  • Multiple Myeloma Without Mention Of Remission

  • Monostotic Plasma Cell Myeloma

  • Mm - [Multiple Myeloma]

Adenocarcinoma
  • Adenocarcinomas

  • Adenoacanthoma Of Unspecified Site

  • Adenocarcinoid Of Unspecified Site

  • Adenocarcinoid Tumour Of Unspecified Site

  • Adenocarcinoma And Carcinoid Combined Of Unspecified Site

  • Adenocarcinoma Nos

Lung Disease
  • Lung Diseases

  • Disorder Of Lung

  • Abnormality Of The Lung

Large Cell Neuroendocrine Carcinoma
Hypothyroidism, Congenital, Nongoitrous, 2
  • Thyroid Dysgenesis

  • CHNG2

  • Thyroid Hypoplasia

  • Thyroid Hemiagenesis

  • Thyroid Agenesis

  • Athyreotic Hypothyroidism

  • Rtsh

  • Thyrotropin Resistance

  • Hypothyroidism, Congenital, Due To Thyroid Dysgenesis Or Hypoplasia

  • Congenital Nongoitrous Hypothyroidism 2

  • Thyroid, Ectopic

  • Hypothyroidism, Congenital, Due To Thyroid Dysgenesis

  • Hypothyroidism, Athyreotic

  • Thyrotropin

  • Resistance To Thyrotropin

  • Congenital Hypothyroidism Due To Thyroid Dysgenesis Or Hypoplasia

  • Hypothyroidism, Congenital, Non-Goitrous, 2

  • Congenital Hypothyroidism Due To Thyroid Dysgenesis

  • Thyroid-Stimulating Hormone Resistance

  • Thyroid Ectopic

  • Ectopic Thyroid

  • Hypothyroidism, Congenital, Nongoitrous, 3

  • Thyroid Hormone Resistance Syndrome

  • Hypothyroidism, Congenital, Nongoitrous, 1

Bronchus Adenoma
  • Bronchial Adenoma

  • Adenoma Of The Bronchus

Lung Large Cell Carcinoma
  • Large Cell Carcinoma Of Lung

  • Large Cell Lung Carcinoma

  • Large Cell Lung Cancer

Diaphragmatic Hernia, Congenital
  • Congenital Diaphragmatic Hernia

  • Diaphragmatic Hernia

  • Cdh

  • Congenital Diaphragmatic Defect

  • Hernia, Diaphragmatic

  • Dih

  • Hernia, Congenital Diaphragmatic

  • Hcd

  • Diaphragmatic Defect, Congenital

  • Diaphragm, Unilateral Agenesis Of

  • Hemidiaphragm, Agenesis Of

  • Diaphragmatic Hernia 1

  • Agenesis Of Hemidiaphragm

  • Unilateral Agenesis Of Diaphragm

  • Hernia Diaphragmatic

  • Hernia Diaphragmatic Congenital

  • Hernia, Diaphragmatic, Type 1

  • Hiatus Hernia

  • Oesophageal Hiatus Hernia

  • Paraoesophageal Hernia

  • Sliding Hiatus Hernia

  • Congenital Diaphragm Hernia

  • Congenital Diaphragm Defect With Hernia

  • Gross Congenital Diaphragm Defect

Benign Teratoma
  • Dermoid Cyst

  • Cystic Dermoid Choristoma

  • Dermoid Choristoma

  • Mature Cystic Teratoma

  • Dermoid Tumour

  • Teratoma, Benign

  • Dermoid Cyst Of Ovary

Neonatal Respiratory Failure
  • Respiratory Failure Of Newborn

  • Inadequate Pulmonary Ventilation Of Newborn

  • Newborn Lung Insufficiency

  • Newborn Pulmonary Function Inadequate

  • Newborn Pulmonary Insufficiency

  • Newborn Respiration Failure

  • Newborn Respiratory Insufficiency

  • Respiratory Insufficiency Syndrome Of Newborn

Neuroendocrine Tumor
  • Neuroendocrine Neoplasm

  • Neuroendocrine Tumors

  • Carcinoma, Neuroendocrine

Thyroid Malformation
Solid Adenocarcinoma With Mucin Production
Sex Cord-Gonadal Stromal Tumor
  • Sex Cord-Gonadal Stromal Tumour

  • Sex Cord Stromal Tumour

  • Sex Cord-Stromal Neoplasm

  • Specialized Gonadal Neoplasm

  • Specialized Gonadal Tumor

  • Specialized Gonadal Tumour

  • Sex Cord-Gonadal Stromal Tumors

  • Sex Cord-Stromal Tumor

  • Malignant Testicular Sex Cord-Stromal Tumor

  • Sex Cord Stromal Tumor Of Testis

Sternum Cancer
  • Malignant Sternal Neoplasm

  • Neoplasm Of Sternum

Sternum Lymphoma
  • Lymphoma Of Sternum

  • Lymphoma Of The Sternum

Lung Meningioma
  • Lung Primary Meningioma

  • Primary Pulmonary Meningioma

  • Pulmonary Meningioma

  • Primary Lung Meningioma

Malignant Struma Ovarii
  • Struma Ovarii, Malignant

Lung Papillary Adenocarcinoma
  • Papillary Lung Adenocarcinoma

  • Papillary Adenocarcinoma Of The Lung

Thyroid Carcinoma, Familial Medullary
  • Medullary Thyroid Carcinoma

  • Familial Medullary Thyroid Carcinoma

  • MTC

  • Medullary Thyroid Cancer

  • Fmtc

  • Mtc1

  • Thyroid Cancer, Medullary

  • Thyroid Carcinoma, Medullary

  • Familial Mtc

  • Thyroid Carcinoma Medullary

  • Carcinoma, Thyroid, Medullary, Familial

  • Medullary Carcinoma Of Thyroid

  • Medullary Carcinoma With Amyloid Stroma, Unspecified Site

  • Medullary Carcinoma With Amyloid Stroma Of Thyroid

Keratinizing Squamous Cell Carcinoma
  • Squamous Cell Carcinoma, Keratinizing

  • Keratinizing Epidermoid Carcinoma

Ovarian Germ Cell Cancer
  • Ovarian Germ Cell Tumor

  • Malignant Germ Cell Tumor Of Ovary

  • Germ Cell Neoplasm Of Ovary

  • Germ Cell Tumor Of Ovary

  • Mogct

  • Malignant Ovarian Germ Cell Tumor

  • Malignant Ovarian Germ Cell Neoplasm

Lung Sarcomatoid Carcinoma
  • Sarcomatoid Carcinoma Of The Lung

  • Pulmonary Sarcomatoid Carcinoma

Patent Foramen Ovale
  • Atrial Septal Defect Within Oval Fossa

  • Foramen Ovale Patent

  • Ostium Secundum Atrial Septal Defect

  • Atrial Septal Defect, Ostium Secundum Type

  • Foramen Ovale, Patent

  • Defect, Patent Or Persistent, Ostium Secundum

  • Ostium Secundum Type Atrial Septal Defect

  • Persistent Ostium Secundum

  • Asd Ostium Secundum Type

  • Ostium Secundum Asd

  • Osasd

  • Asd, Ostium Secundum Type

  • Pfo - [Patent Foramen Ovale]

  • Open Foramen Ovale

  • Open Oval Foramen

  • Persistent Foramen Ovale

  • Secundum Atrial Septal Defect

Chordoid Glioma
  • Chordoid Glioma Of The Third Ventricle

Paraganglioma
  • Chemodectoma

  • Glomus Body Tumor

  • Paragangliomas

  • Carotid Body Paraganglioma

  • Extra-Adrenal Paraganglioma

Dystonia
  • Dystonic Disease

  • Dystonic Disorder

  • Dystonia Disorders

  • Neuroleptic Dyskinesia

Spindle Epithelial Tumor With Thymus-Like Differentiation Tumor
  • Settle Tumor

  • Settle Tumour

  • Spindle Epithelial Tumour With Thymus-Like Differentiation Tumour

Lung Acinar Adenocarcinoma
  • Acinar Adenocarcinoma Of The Lung

Small Cell Carcinoma
  • Small Cell Carcinoma, Intermediate Cell

  • Intermediate Cell Small Cell Carcinoma

  • Small Cell Carcinoma - Intermediate Cell

  • Small Cell Carcinoma Of Lung

  • Carcinoma, Small Cell

Main Bronchus Cancer
  • Malignant Neoplasm Of Main Bronchus

  • Ca Main Bronchus

Lung Giant Cell Carcinoma
  • Carcinoma, Giant Cell

  • Giant Cell Carcinoma

  • Giant Cell Lung Carcinoma

  • Carcinoma Giant Cell

  • Giant Cell Carcinoma Of Lung

Mucinous Adenocarcinoma
  • Mucin-Producing Adenocarcinoma

  • Mucin-Secreting Adenocarcinoma

  • Mucin-Secreting Carcinoma

  • Mucous Carcinoma

  • Pseudomyxoma Peritonei With Unknown Primary Site

  • Adenocarcinoma, Mucinous

Ureter Small Cell Carcinoma
  • Ureteral Small Cell Carcinoma

Salivary Gland Carcinoma
  • Salivary Gland Cancer

  • Malignant Neoplasm Of Salivary Gland

  • Salivary Gland Neoplasms

Pulmonary Neuroendocrine Tumor
  • Neuroendocrine Neoplasm Of Lung

Lung Carcinoma In Situ
Pulmonary Large Cell Neuroendocrine Carcinoma
  • Large Cell Lung Neuroendocrine Carcinoma

Lung Cancer Susceptibility 3
  • Lung Adenocarcinoma

  • Adenocarcinoma Of Lung

  • LNCR3

  • Adenocarcinoma Of Lung, Susceptibility To

  • Bronchogenic Lung Adenocarcinoma

  • Nonsmall Cell Adenocarcinoma

  • Adenocarcinoma Lung

  • Lung Adenocarcinomas

  • Non-Small Cell Adenocarcinoma

Thymus Basaloid Carcinoma
  • Basaloid Carcinoma Of The Thymus

  • Thymic Basaloid Carcinoma

Squamous Cell Carcinoma
  • Epidermoid Carcinoma

  • Squamous Cell Cancer

  • Carcinoma, Squamous Cell

  • Squamous Cell Skin Cancer

  • Malignant Squamous Cell Tumor

  • Squamous Carcinoma

  • Squamous Cell Epithelioma

  • Carcinoma Squamous Cell

  • Neoplasms, Squamous Cell

  • Squamous Cell Carcinoma - Category

  • Malignant Squamous Cell Neoplasm

  • Squamous Cell Carcinoma Of Skin

Aortic Malignant Tumor
  • Aortic Malignant Neoplasm

  • Malignant Aortic Neoplasm

Thymus Clear Cell Carcinoma
  • Clear Cell Carcinoma Of The Thymus

  • Thymic Clear Cell Carcinoma

Glioblastoma Neural Subtype
Movement Disease
  • Movement Disorders

  • Movement Disorder

Ureter Adenocarcinoma
  • Adenocarcinoma Of Ureter

  • Ureteral Adenocarcinoma

Adenocarcinoma In Situ
Choreatic Disease
  • Chorea

  • Hereditary Chorea

Nasal Cavity Olfactory Neuroblastoma
  • Olfactory Neuroblastoma Of The Nasal Cavity

Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate
  • Bamforth-Lazarus Syndrome

  • Bamforth Syndrome

  • Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate

  • Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome

  • Hypothyroidism-Cleft Palate Syndrome

  • BLS

  • Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate

Tracheal Disease
  • Tracheal Diseases

  • Tracheal Anomaly

  • Tracheal Disorders

Tall Cell Variant Papillary Carcinoma
  • Tall Cell Variant Thyroid Gland Papillary Carcinoma

Basaloid Squamous Cell Carcinoma
  • Basaloid Carcinoma

Thyroid Gland Follicular Carcinoma
  • Follicular Thyroid Carcinoma

  • Follicular Adenocarcinoma

  • Follicular Adenocarcinoma, Well Differentiated

  • Follicular Carcinoma

  • Thyroid Adenocarcinoma

  • Adenocarcinoma, Follicular

Tracheomalacia
  • Congenital Tracheomalacia

  • Congenital Major Airway Collapse

  • Tracheomalacia, Congenital

  • Type 1 Tracheomalacia

Pulmonary Adenocarcinoma In Situ
  • Bronchioalveolar Carcinoma

Cystic Teratoma
  • Dermoid Cyst

  • Benign Teratoma

Lymphangitis
  • Inflammation Of Lymphatics

Multinodular Goiter
Ectopic Thymus
Interstitial Lung Disease
  • Ild

  • Lung Diseases, Interstitial

  • Lung Diseases Interstitial

  • Interstitial Lung Diseases

Thyroid Dyshormonogenesis 2a
  • TDH2A

  • Iodide Peroxidase Deficiency

  • Deficiency Of Iodide Peroxidase

  • Thyroid Peroxidase Deficiency

  • Genetic Defect In Thyroid Hormonogenesis 2a

  • Thyroid Hormonogenesis, Genetic Defect In, 2a

  • Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2a

  • Chdh2a

  • Congenital Hypothyroidism Due To Dyshormonogenesis Type 2a

  • Thyroid Hormone Organification Defect 2

  • Tiod

Ovarian Cystic Teratoma
Thyroid Gland Disease
  • Abnormality Of The Thyroid Gland

  • Thyroid Diseases

Restless Legs Syndrome
  • Wed

  • Willis-Ekbom Disease

  • Restless Leg Syndrome

  • Ekbom Syndrome

  • Wittmaack-Ekbom Syndrome

  • Willis Ekbom Disease

  • Ekbom'S Syndrome

  • Rls

  • Restless Legs

  • Restless Legs Syndrome, Susceptibility To

Ovary Leiomyosarcoma
  • Leiomyosarcoma Of Ovary

Mediastinal Cancer
  • Mediastinal Neoplasms

  • Mediastinal Tumor

  • Mediastinum Cancer

  • Neoplasm Of Mediastinum

  • Tumour Of Mediastinum

  • Malignant Tumor Of Mediastinum

Tracheal Stenosis
  • Stenosis Of Trachea

Carotid Body Cancer
  • Cancer Of Carotid Body

  • Malignant Carotid Body Paraganglioma

  • Malignant Carotid Body Tumor

  • Malignant Neoplasm Of Carotid Body

Laryngeal Small Cell Carcinoma
  • Small Cell Carcinoma Of Larynx

Thyroid Gland Medullary Carcinoma
  • Medullary Thyroid Carcinoma

  • Medullary Carcinoma Of The Thyroid Gland

  • Ultimobranchial Thyroid Tumor

  • Ultimobranchial Thyroid Tumour

  • Thyroid Cancer, Medullary

Cerebral Palsy
  • Infantile Cerebral Palsy

  • Mixed Cerebral Palsy

  • Palsy Cerebral

  • Palsy, Cerebral

  • Cerebral Palsy, Mixed

Laryngeal Neuroendocrine Tumor
  • Laryngeal Neuroendocrine Tumour

  • Neuroendocrine Tumor Of Larynx

  • Neuroendocrine Tumour Of Larynx

  • Neuroendocrine Neoplasm Of Larynx

Retinal Melanoma
  • Malignant Retinal Melanoma

  • Malignant Melanoma Of Retina

Renal Cell Carcinoma, Nonpapillary
  • Renal Cell Carcinoma

  • RCC

  • Nonpapillary Renal Cell Carcinoma

  • Clear Cell Renal Cell Carcinoma

  • Hypernephroma

  • Adenocarcinoma Of Kidney

  • Renal Carcinoma, Chromophobe, Somatic

  • Clear Cell Carcinoma Of Kidney

  • Clear-Cell Metastatic Renal Cell Carcinoma

  • Clear Cell Renal Carcinoma

  • Renal Cell Carcinoma, Somatic

  • Conventional Renal Cell Carcinoma

  • Conventional Renal Cell Carcinoma

  • Renal Clear Cell Carcinoma

  • Ccrcc

  • Hereditary Clear Cell Renal Cell Carcinoma

  • Carcinoma, Renal Cell

  • Renal Cell Carcinoma, Clear Cell, Somatic

  • Renal Cell Carcinoma, Clear Cell

  • Clear Cell Kidney Carcinoma

  • Clear Cell Rcc

  • Cystic-Multilocular Variant

  • Clear Cell Renal Cell Adenocarcinoma

  • Hereditary Clear Cell Renal Cell Adenocarcinoma

  • Common Renal Cell Carcinoma

  • Crcc

  • Renal Cell Carcinoma Non-Papillary

  • Carcinoma Renal Cell

  • Renal Cell Cancer

  • Carcinoma, Renal Cell, Nonpapillary

Lung Clear Cell Carcinoma
Lung Adenoma
  • Adenoma Of Lung

  • Pulmonary Adenoma

Mixed Lacrimal Gland Cancer
  • Carcinoma Ex Pleomorphic Adenoma Of Lacrimal Gland

  • Carcinoma Ex Pleomorphic Adenoma Of The Lacrimal Gland

  • Malignant Mixed Neoplasm Of Lacrimal Gland

Lymphohistiocytoid Mesothelioma
Mowat-Wilson Syndrome
  • MOWS

  • Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

  • Hirschsprung Disease-Mental Retardation Syndrome

  • Mowat-Wilson Syndrome Due To Monosomy 2q22

  • Hirschsprung Disease Mental Retardation Syndrome

  • Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

  • Hirschsprung Disease - Intellectual Disability Syndrome

  • Hirschsprung Disease Intellectual Disability Syndrome

  • Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

  • Mws

  • Hirschsprung Disease-Intellectual Disability Syndrome

  • Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

  • Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

  • Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

  • Mowat-Wilson Syndrome Due To 2q22 Microdeletion

  • Mowat-Wilson Syndrome Due To Del(2)Q(22)

  • Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

  • Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Esophageal Atresia
  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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