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

    Gene ID: 4821, updated on 2-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (21511017..21522689, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (21567657..21579329, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21491655..21503327, 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 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. A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis. Kavitha B, et al. Acta Diabetol, 2024 Feb. PMID 37821536
    2. The homeodomain of Nkx2.2 carries two cooperatively acting nuclear localization signals. Hessabi B, et al. Biochem Biophys Res Commun, 2000 Apr 21. PMID 10772886
    3. NKX2.2 is a useful immunohistochemical marker for Ewing sarcoma. Yoshida A, et al. Am J Surg Pathol, 2012 Jul. PMID 22446943
    4. 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
    5. 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

    See all (41) 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 variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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
    located_in 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_2024_08

    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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