ENSG00000170370


Homo sapiens

Features
Gene ID: ENSG00000170370
  
Biological name :EMX2
  
Synonyms : empty spiracles homeobox 2 / EMX2 / Q04743
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 10
Strand: 1
Band: q26.11
Gene start: 117542444
Gene end: 117549546
  
Corresponding Affymetrix probe sets: 221950_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000450962
Ensembl peptide - ENSP00000480271
Ensembl peptide - ENSP00000474874
NCBI entrez gene - 2018     See in Manteia.
OMIM - 600035
RefSeq - NM_001165924
RefSeq - NM_004098
RefSeq Peptide - NP_001159396
RefSeq Peptide - NP_004089
swissprot - A0A087WWJ6
swissprot - Q04743
Ensembl - ENSG00000170370
  
Related genetic diseases (OMIM): 269160 - Schizencephaly, 269160

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
 emx2ENSDARG00000039701Danio rerio
 EMX2ENSGALG00000009302Gallus gallus
 Emx2ENSMUSG00000043969Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EMX1 / Q04741 / empty spiracles homeobox 1ENSG0000013563867
NOTO / A8MTQ0 / notochord homeoboxENSG0000021451323
VAX2 / Q9UIW0 / ventral anterior homeobox 2ENSG0000011603519
VAX1 / Q5SQQ9 / ventral anterior homeobox 1ENSG0000014870418
EN1 / Q05925 / engrailed homeobox 1ENSG0000016306418
EN2 / P19622 / engrailed homeobox 2ENSG0000016477818


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:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0021542 dentate gyrus development IEA
 biological_processGO:0021796 cerebral cortex regionalization IEA
 biological_processGO:0021846 cell proliferation in forebrain IEA
 biological_processGO:0021885 forebrain cell migration IEA
 biological_processGO:0021987 cerebral cortex development IEA
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0030900 forebrain development IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0072001 renal system development IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0010636 Schizencephaly "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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