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

Gene ID: 4821, updated on 5-Apr-2015
Official Symbol
NKX2-2provided by HGNC
Official Full Name
NK2 homeobox 2provided by HGNC
Primary source
HGNC: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]
Orthologs
See NKX2-2 in MapViewer
Location:
20p11.22
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (21499260..21514026, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (21491655..21494664, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372558 Neighboring gene NK2 homeobox 4 Neighboring gene hydroxysteroid (17-beta) dehydrogenase 12 pseudogene Neighboring gene glutathione S-transferase mu 3 pseudogene 1 Neighboring gene uncharacterized LOC101929625 Neighboring gene uncharacterized LOC101929608 Neighboring gene paired box 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Lupus nephritis susceptibility loci in women with systemic lupus erythematosus.
NHGRI GWA Catalog
  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

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
 
optic nerve 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
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
response to progesterone 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-templated 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
 
Preferred Names
homeobox protein Nkx-2.2
Names
homeobox protein Nkx-2.2
NK-2 homolog B
NK2 transcription factor related, locus 2
NK2 transcription factor-like protein B
homeobox protein NK-2 homolog B

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)

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

    See proteins identical to NP_002500.1

    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:129185
    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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    21499260..21514026
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529237.1XP_011527539.1  

    Conserved Domains (1) summary
    cd00086
    Location:129185
    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.
  2. XM_006723566.2XP_006723629.1  

    Conserved Domains (1) summary
    cd00086
    Location:58114
    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.

RNA

  1. XR_937078.1 RNA Sequence

  2. XR_937076.1 RNA Sequence

  3. XR_937077.1 RNA Sequence

  4. XR_937079.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    21491637..21494646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)