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

Gene ID: 4821, updated on 18-Sep-2024

Summary

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

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

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

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_001424411.1NP_001411340.1  homeobox protein Nkx-2.2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL133325
  2. NM_001424412.1NP_001411341.1  homeobox protein Nkx-2.2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL133325
    UniProtKB/Swiss-Prot
    O95096
  3. NM_002509.4NP_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:131185
    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_047440152.1XP_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_054323457.1XP_054179432.1  homeobox protein Nkx-2.2 isoform X1

    UniProtKB/Swiss-Prot
    O95096