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 Pathways Associated diseases
Entrez ID	4825
Gene name	NK6 homeobox 1
Gene symbol	NKX6-1
Synonyms (NCBI Gene)	NKX6.1NKX6A
Chromosome	4
Chromosome location	4q21.23
Summary	In the pancreas, NKX6.1 is required for the development of beta cells and is a potent bifunctional transcription regulator that binds to AT-rich sequences within the promoter region of target genes Iype et al. (2004) [PubMed 15056733].[supplied by OMIM, M

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miRTarBase ID	miRNA	Experiments	Reference
MIRT048171	hsa-miR-196a-5p	CLASH	23622248
MIRT444278	hsa-miR-9500	PAR-CLIP	22100165
MIRT444277	hsa-miR-4785	PAR-CLIP	22100165
MIRT444276	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT444275	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT444274	hsa-miR-644a	PAR-CLIP	22100165
MIRT444273	hsa-miR-937-5p	PAR-CLIP	22100165
MIRT444272	hsa-miR-627-5p	PAR-CLIP	22100165
MIRT444271	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT444270	hsa-miR-8081	PAR-CLIP	22100165
MIRT440106	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT440106	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT444278	hsa-miR-9500	PAR-CLIP	22100165
MIRT444277	hsa-miR-4785	PAR-CLIP	22100165
MIRT444276	hsa-miR-4747-5p	PAR-CLIP	22100165
MIRT444275	hsa-miR-5196-5p	PAR-CLIP	22100165
MIRT444274	hsa-miR-644a	PAR-CLIP	22100165
MIRT444273	hsa-miR-937-5p	PAR-CLIP	22100165
MIRT444272	hsa-miR-627-5p	PAR-CLIP	22100165
MIRT444271	hsa-miR-4474-3p	PAR-CLIP	22100165
MIRT444270	hsa-miR-8081	PAR-CLIP	22100165

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Transcription factor	Regulation	Reference
FOXO1	Unknown	20033803

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
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: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:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003309	Process	Type B pancreatic cell differentiation	IEA
GO:0003310	Process	Pancreatic A cell differentiation	IEA
GO:0003323	Process	Type B pancreatic cell development	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	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:0006366	Process	Transcription by RNA polymerase II	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	TAS	10567713
GO:0010255	Process	Glucose mediated signaling pathway	ISS
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030516	Process	Regulation of axon extension	IEA
GO:0031016	Process	Pancreas development	ISS
GO:0031018	Process	Endocrine pancreas development	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	IEA
GO:0044342	Process	Type B pancreatic cell proliferation	ISS
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048714	Process	Positive regulation of oligodendrocyte differentiation	IEA
GO:0048715	Process	Negative regulation of oligodendrocyte differentiation	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0072560	Process	Type B pancreatic cell maturation	ISS
GO:2000078	Process	Positive regulation of type B pancreatic cell development	ISS
GO:2001222	Process	Regulation of neuron migration	IEA

MIM	HGNC	e!Ensembl
602563	7839	ENSG00000163623

P78426

Protein name

Homeobox protein Nkx-6.1 (Homeobox protein NK-6 homolog A)

Protein function

Transcription factor which binds to specific A/T-rich DNA sequences in the promoter regions of a number of genes. Involved in the development of insulin-producing beta cells in the islets of Langerhans at the secondary transition (By similarity)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	237 → 293	Homeodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Pancreatic beta cells.

Sequence

MLAVGAMEGTRQSAFLLSSPPLAALHSMAEMKTPLYPAAYPPLPAGPPSSSSSSSSSSSP
SPPLGTHNPGGLKPPATGGLSSLGSPPQQLSAATPHGINDILSRPSMPVASGAALPSASP
SGSSSSSSSSASASSASAAAAAAAAAAAAASSPAGLLAGLPRFSSLSPPPPPPGLYFSPS
AAAVAAVGRYPKPLAELPGRTPIFWPGVMQSPPWRDARLACTPHQGSILLDKDGKRKHTR
PTFSGQQIFALEKTFEQTKYLAGPERARLAYSLGMTESQVKVWFQNRRTKWRKKHAAEMA
TAKKKQDSETERLKGASENEEEDDDYNKPLDPNSDDEKITQLLKKHKSSSGGGGGLLLHA
SEPESSS

Sequence length

367

Interactions

View interactions

	KEGG
	Maturity onset diabetes of the young

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	20564139	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	29658966	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29658966	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of cervix	Cervical Tumor	BEFREE	29658966	★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	29439679	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	29658966	★★★★★ ★☆☆☆☆ Found in Text Mining only

NKX6-1 (NK6 homeobox 1)