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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	7080
Gene name	NK2 homeobox 1
Gene symbol	NKX2-1
Synonyms (NCBI Gene)	BCHBHCNK-2NKX2.1NKX2ANMTC1T/EBPTEBPTITF1TTF-1TTF1
Chromosome	14
Chromosome location	14q13.3
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

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 assayWestern 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

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 (96)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	23143308
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	1735431, 7559607, 14960358
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IMP	19176457
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23143308
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
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	IEA
GO:0001161	Function	Intronic transcription regulatory region sequence-specific DNA binding	ISS
GO:0001764	Process	Neuron migration	IEA
GO:0003677	Function	DNA binding	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	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IMP	19176457
GO:0005515	Function	Protein binding	IPI	11152647, 17474147, 19010321
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7713914, 8675988
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	ISS
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005667	Component	Transcription regulator complex	IPI	25060702
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	25060702
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006644	Process	Phospholipid metabolic process	IEA
GO:0007389	Process	Pattern specification process	IEA
GO:0007411	Process	Axon guidance	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	11971878
GO:0007492	Process	Endoderm development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0009725	Process	Response to hormone	IEP	16960125
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0010467	Process	Gene expression	IEA
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:0021537	Process	Telencephalon development	IEA
GO:0021759	Process	Globus pallidus development	IEA
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:0021854	Process	Hypothalamus development	IEA
GO:0021877	Process	Forebrain neuron fate commitment	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0021892	Process	Cerebral cortex GABAergic interneuron differentiation	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0021983	Process	Pituitary gland development	IEA
GO:0022029	Process	Telencephalon cell migration	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030324	Process	Lung development	IEA
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	IEA
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	IEA
GO:0042753	Process	Positive regulation of circadian rhythm	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	14960358
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	19176457
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	7559607, 7713914, 16960125, 17220277
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048511	Process	Rhythmic process	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:0048663	Process	Neuron fate commitment	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
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	17220277
GO:0097154	Process	GABAergic neuron differentiation	IEA
GO:1904936	Process	Interneuron migration	IEA

MIM	HGNC	e!Ensembl
600635	11825	ENSG00000136352

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

209

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Benign hereditary chorea	Pathogenic; Likely pathogenic	rs2139407646, rs28936672, rs2139408021, rs28936671, rs387906404, rs137852693, rs137852694, rs2502629750, rs2502626316, rs2502634520, rs2502635574, rs1555349146, rs1555349214, rs1057519223, rs1594407006, rs1881068627 View all (1 more)	RCV003336461 RCV002249110 RCV002250152 RCV000009536 RCV000009537 RCV000009538 RCV001262792 RCV000009543 RCV003153123 RCV003237310 RCV003237313 RCV004545921 RCV000585667 RCV003336094 RCV004818064 RCV000995588 RCV001265606
Brain-lung-thyroid syndrome	Likely pathogenic; Pathogenic	rs28936671, rs2139411832, rs2139407395, rs765736023, rs760880632, rs2139412296, rs2502630215, rs863225300, rs28936672, rs137852692, rs587776707, rs137852693, rs587776709, rs587776708, rs2139408360 View all (40 more)	RCV001732211 RCV001787250 RCV001808174 RCV003236923 RCV002466760 RCV003336768 RCV003236939 RCV000201946 RCV003236767 RCV000009539 RCV000009540 RCV000009542 RCV000009544 RCV000009545 RCV003152843 RCV003223459 RCV003237247 RCV003237248 RCV003237249 RCV003237253 RCV003237268 RCV003237276 RCV003237280 RCV003237284 RCV003237285 RCV003237286 RCV003237287 RCV003237295 RCV003237296 RCV003237297 RCV003237298 RCV003237299 RCV003237300 RCV003237301 RCV003237302 RCV003237303 RCV003237304 RCV003237306 RCV003237307 RCV003237308 RCV003237309 RCV003237311 RCV003237312 RCV004018030 RCV003236822 RCV003236825 RCV000680048 RCV000787039 RCV000790468 RCV003236851 RCV000989203 RCV000989205 RCV002051906 RCV003236866 RCV001200886 RCV001329567 RCV001283792
Chorea	Likely pathogenic; Pathogenic	rs760880632	RCV002463841
Hereditary ataxia	Likely pathogenic; Pathogenic	rs760880632	RCV002463841
Multiple myeloma	Likely pathogenic	rs1594406727	RCV000984090
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555349214	RCV000787358
NKX2-1-related disorder	Likely pathogenic; Pathogenic	rs28936672, rs765736023, rs2502626374, rs1448653785, rs1555349209, rs1881114341	RCV005867736 RCV003221335 RCV004545863 RCV004545662 RCV002280131 RCV005250175
See cases	Pathogenic; Likely pathogenic	rs863225300, rs2502629085	RCV004584373 RCV003156174

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Interstitial lung disease 2	Uncertain significance; Conflicting classifications of pathogenicity	rs775837863, rs2139407086, rs773410433, rs761535664, rs1881119358	RCV002284276 RCV002284277 RCV002284290 RCV002284291 RCV002284292
Lung adenocarcinoma	Benign	rs894564701	RCV003129601
Squamous cell carcinoma	Uncertain significance	rs2502622234	RCV003129688
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	rs537209983, rs1881201369	RCV000576900 RCV001195931

NKX2-1 (NK2 homeobox 1)