Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7080
Gene name Gene Name - the full gene name approved by the HGNC.	NK2 homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NKX2-1
Synonyms (NCBI Gene) Gene synonyms aliases	BCH, BHC, NK-2, NKX2.1, NKX2A, NMTC1, T/EBP, TEBP, TITF1, TTF-1, TTF1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	BHC, NMTC1
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(25)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032087	hsa-let-7f-5p	qRT-PCR	19956384
MIRT631743	hsa-miR-1244	HITS-CLIP	23824327
MIRT631742	hsa-miR-5697	HITS-CLIP	23824327
MIRT631741	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT631740	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT631739	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631738	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT631737	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT732781	hsa-miR-338-3p	Luciferase reporter assay, Western blotting	32965722
MIRT631743	hsa-miR-1244	HITS-CLIP	23824327
MIRT631742	hsa-miR-5697	HITS-CLIP	23824327
MIRT631741	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT631740	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT631739	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT631738	hsa-miR-4703-3p	HITS-CLIP	23824327
MIRT631737	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT1186521	hsa-miR-1827	CLIP-seq
MIRT1186522	hsa-miR-23a	CLIP-seq
MIRT1186523	hsa-miR-23b	CLIP-seq
MIRT1186524	hsa-miR-23c	CLIP-seq
MIRT1186525	hsa-miR-378g	CLIP-seq
MIRT1186526	hsa-miR-4316	CLIP-seq
MIRT1186527	hsa-miR-4710	CLIP-seq
MIRT1186528	hsa-miR-495	CLIP-seq
MIRT1186529	hsa-miR-502-5p	CLIP-seq

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
FOXA1	Unknown	23358112
FOXA2	Unknown	23358112
FOXP2	Repression	18239190
POU3F2	Unknown	23358112
SMAD2	Unknown	23259454
SP1	Unknown	10684967
SP3	Unknown	10684967

Show/Hide all(60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23143308
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	1735431, 7559607, 14960358
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IMP	19176457
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23143308
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	IDA	23143308
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	ISS
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	IMP	7635972
GO:0003700	Function	DNA-binding transcription factor activity	IDA	7559607, 7713914, 16960125, 17220277
GO:0003700	Function	DNA-binding transcription factor activity	IMP	19176457
GO:0005515	Function	Protein binding	IPI	11152647, 17474147, 19010321
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	7713914, 8675988
GO:0005654	Component	Nucleoplasm	ISS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007420	Process	Brain development	IMP	11971878
GO:0007492	Process	Endoderm development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008134	Function	Transcription factor binding	IPI	17220277
GO:0009725	Process	Response to hormone	IEP	16960125
GO:0010628	Process	Positive regulation of gene expression	IDA	16960125
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IDA	19293183
GO:0019899	Function	Enzyme binding	IPI	23382074
GO:0021759	Process	Globus pallidus development	IMP	11854319
GO:0021766	Process	Hippocampus development	IEA
GO:0021795	Process	Cerebral cortex cell migration	IEA
GO:0021798	Process	Forebrain dorsal/ventral pattern formation	IEA
GO:0021877	Process	Forebrain neuron fate commitment	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030324	Process	Lung development	IEP	15494458, 16960125
GO:0030336	Process	Negative regulation of cell migration	IDA	19293183
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IDA	19293183
GO:0030878	Process	Thyroid gland development	IEP	15494458
GO:0030878	Process	Thyroid gland development	IMP	11854319
GO:0030900	Process	Forebrain development	IEP	15494458
GO:0031128	Process	Developmental induction	IEA
GO:0033327	Process	Leydig cell differentiation	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	14960358
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IMP	19176457
GO:0045893	Process	Positive regulation of transcription, DNA-templated	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7559607, 7713914, 16960125, 17220277
GO:0048511	Process	Rhythmic process	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0060430	Process	Lung saccule development	IEA
GO:0060441	Process	Epithelial tube branching involved in lung morphogenesis	IEP	8675988
GO:0060486	Process	Club cell differentiation	IEA
GO:0060510	Process	Type II pneumocyte differentiation	IEA

MIM	HGNC	e!Ensembl
600635	11825	ENSG00000136352

Protein

UniProt ID

P43699

Protein name

Homeobox protein Nkx-2.1 (Homeobox protein NK-2 homolog A) (Thyroid nuclear factor 1) (Thyroid transcription factor 1) (TTF-1) (Thyroid-specific enhancer-binding protein) (T/EBP)

Protein function

Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung d

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	162 → 218	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Thyroid and lung.

Sequence

MSMSPKHTTPFSVSDILSPLEESYKKVGMEGGGLGAPLAAYRQGQAAPPTAAMQQHAVGH
HGAVTAAYHMTAAGVPQLSHSAVGGYCNGNLGNMSELPPYQDTMRNSASGPGWYGANPDP
RFPAISRFMGPASGMNMSGMGGLGSLGDVSKNMAPLPSAPRRKRRVLFSQAQVYELERRF
KQQKYLSAPEREHLASMIHLTPTQVKIWFQNHRYKMKRQAKDKAAQQQLQQDSGGGGGGG
GTGCPQQQQAQQQSPRRVAVPVLVKDGKPCQAGAPAPGAASLQGHAQQQAQHQAQAAQAA
AAAISVGSGGAGLGAHPGHQPGSAGQSPDLAHHAASPAALQGQVSSLSHLNSSGSDYGTM
SCSTLLYGRTW

Sequence length

371

Interactions

View interactions

Show/Hide Causal Diseases (22)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Apraxia	Apraxias	rs121908377, rs121908378, rs1135401820, rs1178491246, rs1584969672
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Benign hereditary chorea	Benign Hereditary Chorea, Benign hereditary chorea	rs28936671, rs28936672, rs387906404, rs137852693, rs137852694, rs1555349146, rs1555349214, rs1594407006	15955952, 11971878, 24453141, 26723978, 11854319, 12196653, 12891678, 16220345, 15289765
Brain-lung-thyroid syndrome	Brain-lung-thyroid syndrome	rs28936672, rs137852692, rs587776707, rs137852693, rs587776709, rs587776708, rs863225300, rs1555349209, rs1555349221, rs1566615444, rs1594403511, rs1594406926, rs1057519223, rs1594403990, rs1594407150, rs775015070 View all (1 more)
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670	11854319
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)	17640327
Hypoparathyroidism	Hypoparathyroidism	rs104893959, rs104894271, rs2134093224, rs104894272, rs6256, rs193922430, rs886037646, rs1554103179
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912 View all (22 more)
Mental retardation	Severe intellectual disability, Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Lung carcinoma	Non-Small Cell Lung Carcinoma	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355 View all (44 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Neurodevelopmental disorders	Neurodevelopmental Disorders	rs869312846, rs869312840, rs869312848, rs869312849, rs869312845, rs886041956, rs1064795110, rs1555762734, rs1555764992, rs1568512728, rs1568532361, rs1595472741, rs1595472764, rs1595476797, rs1016320330, rs1595127294, rs1600392059 View all (2 more)
Papillary thyroid carcinoma	Papillary thyroid carcinoma	rs751409106	21730105
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424 View all (116 more)
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578 View all (1 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)
Thyroid cancer	Familial Nonmedullary Thyroid Cancer, THYROID CANCER, NONMEDULLARY, 1	rs119486096, rs104894171, rs28933406, rs11554290, rs121913364, rs797044990, rs1564566774, rs200989342	19176457
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Asthma	Asthma	ClinVar
Huntington disease	Chronic progressive chorea	ClinVar
Dementia	hereditary progressive chorea without dementia	GenCC

NKX2-1 (NK2 homeobox 1)