Entity Details

Primary name EMX2
Entity type gene
Source Source Link

Details

PrimaryID2018
RefseqGeneNG_013009
SymbolEMX2
Nameempty spiracles homeobox 2
Chromosome10
Location10q26.11
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-07-28
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEMX2_HUMAN

GO terms

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GOName
GO:0000785 chromatin
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0005634 nucleus
GO:0006357 regulation of transcription by RNA polymerase II
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0009952 anterior/posterior pattern specification
GO:0021542 dentate gyrus development
GO:0021796 cerebral cortex regionalization
GO:0021846 cell proliferation in forebrain
GO:0021885 forebrain cell migration
GO:0030182 neuron differentiation
GO:0042493 response to drug
GO:0072197 ureter morphogenesis
GO:1990837 sequence-specific double-stranded DNA binding

Diseases

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Disease IDSourceNameDescription
269160 OMIMSchizencephaly (SCHZC)Extremely rare human congenital disorder characterized by a full-thickness cleft within the cerebral hemispheres. These clefts are lined with gray matter and most commonly involve the parasylvian regions. Large portions of the cerebral hemispheres may be absent and replaced by cerebro-spinal fluid. The disease is caused by variants affecting the gene represented in this entry.