• Gene id: 4821

Gene Summary

• Gene Symbol: NKX2-2   Gene   UCSC   Ensembl
• Aliases: NKX2.2, NKX2B
• Gene name: NK2 homeobox 2
• Alternate names: homeobox protein Nkx-2.2, NK2 transcription factor related, locus 2, NK2 transcription factor-like protein B, homeobox protein NK-2 homolog B,
• Gene location: 20p11.22 (21514063: 21511009)     Exons: 3     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene contains a homeobox domain and may be involved in the morphogenesis of the central nervous system. This gene is found on chromosome 20 near NKX2-4, and these two genes appear to be duplicated on chromosome 14 in the form o
• OMIM: 604612

Protein Summary

• Protein general information: O95096  
  • Name: Homeobox protein Nkx 2.2 (Homeobox protein NK 2 homolog B)
  • Length: 273  
  • Mass: 30133
• Sequence:

  MSLTNTKTGFSVKDILDLPDTNDEEGSVAEGPEEENEGPEPAKRAGPLGQGALDAVQSLPLKNPFYDSSDNPYTR
  WLASTEGLQYSLHGLAAGAPPQDSSSKSPEPSADESPDNDKETPGGGGDAGKKRKRRVLFSKAQTYELERRFRQQ
  RYLSAPEREHLASLIRLTPTQVKIWFQNHRYKMKRARAEKGMEVTPLPSPRRVAVPVLVRDGKPCHALKAQDLAA
  ATFQAGIPFSAYSAQSLQHMQYNAQYSSASTPQYPTAHPLVQAQQWTW

• Structural information:
  • Interpro: IPR009057  IPR017970  IPR001356  IPR020479  
  • Prosite: PS00027 PS50071
  • CDD: cd00086
  • STRING: ENSP00000366347
• Other Databases: GeneCards:  NKX2-2  Malacards:  NKX2-2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000987	cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007420	brain development	TAS	biological process
GO:0031018	endocrine pancreas development	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0051091	positive regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0048714	positive regulation of oligodendrocyte differentiation	IEA	biological process
GO:0048708	astrocyte differentiation	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048468	cell development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045665	negative regulation of neuron differentiation	IEA	biological process
GO:0031018	endocrine pancreas development	IEA	biological process
GO:0021530	spinal cord oligodendrocyte cell fate specification	IEA	biological process
GO:0008134	transcription factor binding	IEA	molecular function
GO:0007399	nervous system development	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003329	pancreatic PP cell fate commitment	IEA	biological process
GO:0003323	type B pancreatic cell development	IEA	biological process
GO:0000987	cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0021554	optic nerve development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0060580	ventral spinal cord interneuron fate determination	IEA	biological process
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0021529	spinal cord oligodendrocyte cell differentiation	IEA	biological process
GO:0021522	spinal cord motor neuron differentiation	IEA	biological process
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003327	type B pancreatic cell fate commitment	IEA	biological process
GO:0003326	pancreatic A cell fate commitment	IEA	biological process
GO:0032570	response to progesterone	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04950	Maturity onset diabetes of the young

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)