Entity Details

Primary name EMX2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ04743
EntryNameEMX2_HUMAN
FullNameHomeobox protein EMX2
TaxID9606
Evidenceevidence at protein level
Length252
SequenceStatuscomplete
DateCreated1995-02-01
DateModified2021-06-02

Ontological Relatives

GenesEMX2

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

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR000047 Helix-turn-helix motifSiteConserved site
IPR001356 Homeobox domainDomainDomain
IPR009057 Homeobox-like domain superfamilyFamilyHomologous superfamily
IPR017970 Homeobox, conserved siteSiteConserved site
IPR020479 Homeobox domain, metazoaDomainDomain

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.

Interactions

6 interactions

InteractorPartnerSourcesPublicationsLink
EMX2_HUMANOTU6A_HUMANBioGRID, IntAct32296183 details
EMX2_HUMANTF2AY_HUMANBioGRID, IntAct20211142 details
EMX2_HUMANMEIS1_HUMANBioGRID, IntAct20211142 details
EMX2_HUMANTLE2_HUMANBioGRID, IntAct20211142 details
EMX2_HUMANIF4E_HUMANHPRD, IntAct15247416 details
EMX2_HUMANH4_HUMANBioGRID, IntAct30021884 details