ENSG00000148826


Homo sapiens

Features
Gene ID: ENSG00000148826
  
Biological name :NKX6-2
  
Synonyms : NK6 homeobox 2 / NKX6-2 / Q9C056
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: -1
Band: q26.3
Gene start: 132783179
Gene end: 132786052
  
Corresponding Affymetrix probe sets: 235832_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357581
NCBI entrez gene - 84504     See in Manteia.
OMIM - 605955
RefSeq - NM_177400
RefSeq - XM_017016789
RefSeq Peptide - NP_796374
swissprot - Q9C056
Ensembl - ENSG00000148826
  
Related genetic diseases (OMIM): 617560 - Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nkx6.2ENSDARG00000104735Danio rerio
 NKX6-2ENSGALG00000010500Gallus gallus
 Nkx6-2ENSMUSG00000041309Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NKX6-1 / P78426 / NK6 homeobox 1ENSG0000016362368
HLX / Q14774 / H2.0 like homeoboxENSG0000013663026
TLX3 / O43711 / T cell leukemia homeobox 3ENSG0000016443823
TLX1 / P31314 / T cell leukemia homeobox 1ENSG0000010780722
DBX1 / A6NMT0 / developing brain homeobox 1ENSG0000010985122
BARHL1 / Q9BZE3 / BarH like homeobox 1ENSG0000012549221
HHEX / Q03014 / hematopoietically expressed homeoboxENSG0000015280421
A6NJ46 / NKX6-3 / NK6 homeobox 3ENSG0000016506620
BARHL2 / Q9NY43 / BarH like homeobox 2ENSG0000014303220
TLX2 / O43763 / T cell leukemia homeobox 2ENSG0000011529720
BARX2 / Q9UMQ3 / BARX homeobox 2ENSG0000004303919
BARX1 / Q9HBU1 / BARX homeobox 1ENSG0000013166818
DBX2 / Q6ZNG2 / developing brain homeobox 2ENSG0000018561018
LBX2 / Q6XYB7 / ladybird homeobox 2ENSG0000017952818
BSX / Q3C1V8 / brain specific homeoboxENSG0000018890917
LBX1 / P52954 / ladybird homeobox 1ENSG0000013813617


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR020479  Homeobox domain, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated NAS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0010454 negative regulation of cell fate commitment IEA
 biological_processGO:0010455 positive regulation of cell fate commitment IEA
 biological_processGO:0021912 regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification IEA
 biological_processGO:0021913 regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification IEA
 biological_processGO:0022010 central nervous system myelination IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031018 endocrine pancreas development IEA
 biological_processGO:0031641 regulation of myelination IEA
 biological_processGO:0045686 negative regulation of glial cell differentiation IEA
 biological_processGO:0045687 positive regulation of glial cell differentiation IEA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0048709 oligodendrocyte differentiation IEA
 biological_processGO:0050885 neuromuscular process controlling balance IEA
 cellular_componentGO:0005634 nucleus NAS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001078 transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding ISS
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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