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

Gene ID: 4821, updated on 5-Mar-2024

Summary

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Official Symbol
NKX2-2provided by HGNC
Official Full Name
NK2 homeobox 2provided by HGNC
Primary source
HGNC:HGNC:7835
See related
Ensembl:ENSG00000125820 MIM:604612; AllianceGenome:HGNC:7835
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]
Expression
Biased expression in brain (RPKM 3.1), stomach (RPKM 1.3) and 4 other tissues See more
Orthologs
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Genomic context

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See NKX2-2 in Genome Data Viewer
Location:
20p11.22
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (21511017..21522689, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (21567657..21579329, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21491655..21494702, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene hydroxysteroid 17-beta dehydrogenase 12 pseudogene Neighboring gene translation initiation factor IF-2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21485880-21486380 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17625 Neighboring gene VISTA enhancer hs1205 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21496399-21496899 Neighboring gene glutathione S-transferase mu 3 pseudogene 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:21501527-21502341 Neighboring gene Beta cell long intergenic noncoding RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:21554890-21555390 Neighboring gene long intergenic non-protein coding RNA 1727 Neighboring gene long intergenic non-protein coding RNA 1726

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. NKX2.2 immunohistochemistry in the distinction of Ewing sarcoma from cytomorphologic mimics: Diagnostic utility and pitfalls. Russell-Goldman E, et al. Cancer Cytopathol, 2018 Nov. PMID 30376220
  2. Usefulness of NKX2.2 Immunohistochemistry for Distinguishing Ewing Sarcoma from Other Sinonasal Small Round Blue Cell Tumors. McCuiston A, et al. Head Neck Pathol, 2018 Mar. PMID 28616785, Free PMC Article
  3. Evaluation of NKX2-2 expression in round cell sarcomas and other tumors with EWSR1 rearrangement: imperfect specificity for Ewing sarcoma. Hung YP, et al. Mod Pathol, 2016 Apr. PMID 26847175
  4. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. Yoshida A, et al. Am J Surg Pathol, 2012 Jul. PMID 22446943
  5. Lack of NKX2.2 expression in bronchopulmonary typical carcinoid tumors: implications for patients with neuroendocrine tumor metastases and unknown primary site. Wang YC, et al. J Surg Res, 2010 Sep. PMID 20599218

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.
    Title: A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.
  2. Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?
    Title: Does PAX7 and NKX2.2 immunoreactivity in Ewing sarcoma have prognostic significance?
  3. Rapid induction of gliogenesis in OLIG2 and NKX2.2-expressing progenitors-derived spheroids.
    Title: Rapid induction of gliogenesis in OLIG2 and NKX2.2-expressing progenitors-derived spheroids.
  4. Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells.
    Title: Reversible expansion of pancreatic islet progenitors derived from human induced pluripotent stem cells.
  5. Study found that activation of Gli2 transcription factor induces the expression of Nkx2.2. inducing Ewing-like sarcomas.
    Title: Insight into the Etiology of Undifferentiated Soft Tissue Sarcomas from a Novel Mouse Model.
  6. The Utility of NKX2.2 and TLE1 Immunohistochemistry in the Differentiation of Ewing Sarcoma and Synovial Sarcoma.
    Title: The Utility of NKX2.2 and TLE1 Immunohistochemistry in the Differentiation of Ewing Sarcoma and Synovial Sarcoma.
  7. Nkx-2.2 homedomain protein NKX2.2 (NKX2.2) had high sensitivity (100%) and moderate specificity (85%) for the diagnosis of Ewing sarcoma (ES) in cytologic material.
    Title: NKX2.2 immunohistochemistry in the distinction of Ewing sarcoma from cytomorphologic mimics: Diagnostic utility and pitfalls.
  8. NKX2.2 is a useful and very sensitive marker for Ewing sarcoma
    Title: Usefulness of NKX2.2 Immunohistochemistry for Distinguishing Ewing Sarcoma from Other Sinonasal Small Round Blue Cell Tumors.
  9. NKX2.2 demonstrated moderate or strong nuclear positivity in 91.2% of the tumors
    Title: Immunohistochemical analysis of NKX2.2, ETV4, and BCOR in a large series of genetically confirmed Ewing sarcoma family of tumors.
  10. nuclear import of Nkx2-2 is mediated not only by the classical import pathway but also directly by imp beta1 or imp 13
    Title: Nuclear import of Nkx2-2 is mediated by multiple pathways.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

Variation

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See Variation Viewer (GRCh37.p13)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cis-regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in astrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in brain development TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in digestive tract development IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in neuroendocrine cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron fate specification IEA
Inferred from Electronic Annotation
more info
  
involved_in oligodendrocyte development IEA
Inferred from Electronic Annotation
more info
  
involved_in optic nerve development IEA
Inferred from Electronic Annotation
more info
  
involved_in pancreatic A cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in pancreatic PP cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of oligodendrocyte differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in response to glucose IEA
Inferred from Electronic Annotation
more info
  
involved_in response to progesterone IEA
Inferred from Electronic Annotation
more info
  
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in spinal cord motor neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in spinal cord oligodendrocyte cell fate specification IEA
Inferred from Electronic Annotation
more info
  
involved_in type B pancreatic cell development IEA
Inferred from Electronic Annotation
more info
  
involved_in type B pancreatic cell fate commitment IEA
Inferred from Electronic Annotation
more info
  
involved_in ventral spinal cord interneuron fate determination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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

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.

Genomic

  1. NG_042186.1 RefSeqGene

    Range
    4963..8010
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001424411.1 → NP_001411340.1  homeobox protein Nkx-2.2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL133325

  2. NM_001424412.1 → NP_001411341.1  homeobox protein Nkx-2.2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL133325
    UniProtKB/Swiss-Prot
    O95096

  3. NM_002509.4 → NP_002500.1  homeobox protein Nkx-2.2 isoform 1

    See identical proteins and their annotated locations for NP_002500.1

    Status: REVIEWED

    Source sequence(s)
    AL133325, BC075092, BU070383
    Consensus CDS
    CCDS13145.1
    UniProtKB/Swiss-Prot
    O95096
    Related
    ENSP00000366347.4, ENST00000377142.5
    Conserved Domains (1) summary
    pfam00046
    Location:131 → 185
    Homeobox; Homeobox domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    21511017..21522689 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047440152.1 → XP_047296108.1  homeobox protein Nkx-2.2 isoform X1

    UniProtKB/Swiss-Prot
    O95096

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    21567657..21579329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323457.1 → XP_054179432.1  homeobox protein Nkx-2.2 isoform X1

    UniProtKB/Swiss-Prot
    O95096
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95096.1 GenPept UniProtKB/Swiss-Prot:O95096

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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