NKX2-2 NK2 homeobox 2 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: NKX2-2provided by HGNC
Official Full Name: NK2 homeobox 2provided by HGNC
Primary source: HGNC:7835
See related: Ensembl:ENSG00000125820; HPRD:05213; MIM:604612; Vega:OTTHUMG00000170524
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NKX2B; NKX2.2
Summary: 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 of TITF1 and NKX2-8. The encoded protein is likely to be a nuclear transcription factor. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 20p11.22

Sequence :: Chromosome: 20; NC_000020.10 (21491655..21494664, complement)

See NKX2-2 in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

NKX2.2 is a valuable marker for Ewing sarcoma, with a sensitivity of 93% and a specificity of 89%, and aids in the differential diagnosis of small round cell tumors.
Title: NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma.
The NKX2-2 can induce desired neuronal lineages from most expressing neural progenitor cells by a mechanism resembling developmental binary cell-fate switching.
Title: Transcription factor-induced lineage selection of stem-cell-derived neural progenitor cells.
NKX2-1, NKX2-2, and MEF2C define oncogenic pathways in T cell acute lymphoblastic leukemia (T-ALL).
Title: Integrated transcript and genome analyses reveal NKX2-1 and MEF2C as potential oncogenes in T cell acute lymphoblastic leukemia.
expression may assist in the determination of the primary tumor site in patients with neuroendocrine tumor metastases of unknown origin: negative would suggest a bronchopulmonary primary, whereas positive would suggest a gastrointestinal primary
Title: Lack of NKX2.2 expression in bronchopulmonary typical carcinoid tumors: implications for patients with neuroendocrine tumor metastases and unknown primary site.
NKX2.2 functions in immature endocrine cells to control neuroendocrine differentiation in normal intestine and is expressed in most neuroendocrine tumors of the gut
Title: Homeodomain transcription factor NKX2.2 functions in immature cells to control enteroendocrine differentiation and is expressed in gastrointestinal neuroendocrine tumors.
several genes that are known to be regulated by DNA methylation were up-regulated dramatically by integrin alpha6beta4 expression, including S100A4, FST, PDLIM4, CAPG, and Nkx2.2.
Title: Integrin alpha6beta4 controls the expression of genes associated with cell motility, invasion, and metastasis, including S100A4/metastasin.
EWS/FLI mediates transcriptional repression via NKX2.2 during oncogenic transformation in Ewing's sarcoma
Title: EWS/FLI mediates transcriptional repression via NKX2.2 during oncogenic transformation in Ewing's sarcoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
Functional analysis revealed that NKX2.2 is an EWS/FLI-regulated gene that is necessary for oncogenic transformation in Ewing's sarcoma.
Title: Expression profiling of EWS/FLI identifies NKX2.2 as a critical target gene in Ewing's sarcoma.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
O95096	Q13516	OLIG2	HPRD	PubMed
BioGRID:110886	BioGRID:199230	Dlg4	BioGRID	PubMed	Protein-peptide
BioGRID:110886	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110886	BioGRID:117439	SIN3A	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Maturity onset diabetes of the young, organism-specific biosystem (from KEGG)
Maturity onset diabetes of the young, organism-specific biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Maturity onset diabetes of the young, conserved biosystem (from KEGG)
Maturity onset diabetes of the young, conserved biosystemAbout 2-5% of type II diabetic patients suffer from a monogenic disease with autosomal dominant inheritance. This monogenic form of type II diabetes is called maturity onset diabetes of the young (MO...
Regulation of beta-cell development, organism-specific biosystem (from REACTOME)
Regulation of beta-cell development, organism-specific biosystemThe normal development of the pancreas during gestation has been intensively investigated over the past decade especially in the mouse (Servitja and Ferrer 2004; Chakrabarti and Mirmira 2003). Studie...
Regulation of gene expression in beta cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in beta cells, organism-specific biosystemTwo transcription factors, PDX1 and HNF1A, play key roles in maintaining the gene expression pattern characteristic of mature beta cells in the endocrine pancreas. Targets of these regulatory molecul...
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells, organism-specific biosystem (from REACTOME)
Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells, organism-specific biosystemStudies in mouse model systems indicate that the transcription factor neurogenin 3 plays a central role in the induction of endocrine differentiation in the developing pancreas (Servitja and Ferrer 2...
SIDS Susceptibility Pathways, organism-specific biosystem (from WikiPathways)
SIDS Susceptibility Pathways, organism-specific biosystemIn this model, we provide an integrated view of Sudden Infant Death Syndrome (SIDS) at the level of implicated tissues, signaling networks and genetics. The purpose of this model is to serve as an ov...

General gene information

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Markers

NoName (e-PCR)
- UniSTS:482307

PMC123023P4 (e-PCR)
- UniSTS:270425

Nkx2-2 (e-PCR), detects polymorphism
- UniSTS:144023

Nkx2-2 (e-PCR), detects polymorphism
- UniSTS:516529

NoName (e-PCR)
- UniSTS:480511

Homology

Homologs of the NKX2-2 gene: The NKX2-2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
chromatin binding	ISS Inferred from Sequence or Structural Similarity more info
core promoter proximal region DNA binding	ISS Inferred from Sequence or Structural Similarity more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
transcription coactivator activity	ISS Inferred from Sequence or Structural Similarity more info
transcription factor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
astrocyte differentiation	IEA Inferred from Electronic Annotation more info
brain development	TAS Traceable Author Statement more info	PubMed
digestive tract development	IEA Inferred from Electronic Annotation more info
endocrine pancreas development	TAS Traceable Author Statement more info
negative regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
neuron fate specification	IEA Inferred from Electronic Annotation more info
oligodendrocyte development	IEA Inferred from Electronic Annotation more info
pancreatic A cell fate commitment	IEA Inferred from Electronic Annotation more info
pancreatic PP cell fate commitment	IEA Inferred from Electronic Annotation more info
positive regulation of neuron differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of oligodendrocyte differentiation	IEA Inferred from Electronic Annotation more info
positive regulation of sequence-specific DNA binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of transcription from RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
smoothened signaling pathway	IEA Inferred from Electronic Annotation more info
spinal cord motor neuron differentiation	IEA Inferred from Electronic Annotation more info
spinal cord oligodendrocyte cell fate specification	IEA Inferred from Electronic Annotation more info
transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
type B pancreatic cell development	IEA Inferred from Electronic Annotation more info
type B pancreatic cell fate commitment	IEA Inferred from Electronic Annotation more info
ventral spinal cord interneuron fate determination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: homeobox protein Nkx-2.2

Names: homeobox protein Nkx-2.2; NK-2 homolog B; homeobox protein NK-2 homolog B; NK2 transcription factor-like protein B; NK2 transcription factor related, locus 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002509.3 → NP_002500.1 homeobox protein Nkx-2.2

Status: REVIEWED

Source sequence(s)

AL133325, BC075092, BU070383

Consensus CDS

CCDS13145.1

UniProtKB/Swiss-Prot

O95096

Related

ENSP00000366347, OTTHUMP00000030405, ENST00000377142, OTTHUMT00000078278

Conserved Domains (1) summary

cd00086
Location:135 – 185
Blast Score: 166

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p10 Primary Assembly

Range

21491655..21494664, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

21453847..21456875, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018931.1 Alternate CHM1_1.0

Range

21440700..21443790, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01054105.1 (88760..91788)	None
genomic	AF019414.1	AAC83132.1
genomic	AF019415.1	AAC83132.1
genomic	AF184045.1	AAG16976.1
genomic	AL133325.20 (106575..109585)	None
genomic	AMYH01011770.1 (89132..91834)	None
genomic	AMYH01011771.1	None
genomic	CH471133.3	EAX10183.1
mRNA	BC075092.2	AAH75092.1
mRNA	BC075093.2	AAH75093.1
mRNA	BM314196.1	None
mRNA	BQ632044.1	None
mRNA	BU070383.1	None
mRNA	CA772329.1	None
other-genetic	EU446641.1	ABZ92170.1