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EMX2 empty spiracles homeobox 2 [Homo sapiens (human)]


RefSeq Accession Definition Sequence Price Select
NM_004098 Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA. Full Length $843.32
ORF Sequence $220.11
NM_001165924 Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 2, mRNA. Full Length $789.67
ORF Sequence $159.00


Gene Symbol EMX2
Entrez Gene ID 2018
Full Name empty spiracles homeobox 2
Synonyms
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

10

10q26.1

Summary This gene encodes a homeobox-containing transcription factor that is the homolog to the 'empty spiracles' gene in Drosophila. Research on this gene in humans has focused on its expression in three tissues: dorsal telencephalon, olfactory neuroepithelium, and urogenetial system. It is expressed in the dorsal telencephalon during development in a low rostral-lateral to high caudal-medial gradient and is proposed to pattern the neocortex into defined functional areas. It is also expressed in embryonic and adult olfactory neuroepithelia where it complexes with eukaryotic translation initiation factor 4E (eIF4E) and possibly regulates mRNA transport or translation. In the developing urogenital system, it is expressed in epithelial tissues and is negatively regulated by HOXA10. Alternative splicing results in multiple transcript variants encoding distinct proteins.
Disorder

MIM: 600035

Schizencephaly, 269160 (3)

mRNA NM_004098, 164607120
Protein NP_004089, 14149611
Product homeobox protein EMX2 isoform 1
RefSeq Status REVIEWED
mRNA NM_001165924, 260064071
Protein NP_001159396, 260064072
Product homeobox protein EMX2 isoform 2
RefSeq Status REVIEWED
Homo sapiens (human)EMX2NP_004089.1
Pan troglodytes (chimpanzee)EMX2XP_001152098.1
Canis lupus familiaris (dog)EMX2XP_853333.1
Bos taurus (cattle)EMX2NP_001069313.1
Mus musculus (house mouse)Emx2NP_034262.2
Rattus norvegicus (Norway rat)Emx2XP_574698.1
Gallus gallus (chicken)EMX2XP_421783.2
Danio rerio (zebrafish)LOC100334611XP_002664193.1
Danio rerio (zebrafish)emx2NP_571355.2
Drosophila melanogaster (fruit fly)emsNP_731868.1
Process
IDNameEvidence
GO:0006355regulation of transcription, DNA-dependentIEA
GO:0007275multicellular organismal developmentNAS
GO:0009952anterior/posterior pattern formationIEA
GO:0021542dentate gyrus developmentIEA
GO:0021796cerebral cortex regionalizationIEA
GO:0021846cell proliferation in forebrainIEA
GO:0021885forebrain cell migrationIEA
GO:0030182neuron differentiationIEA
GO:0042493response to drugIEA
Component
IDNameEvidence
GO:0005634nucleusNAS
Function
IDNameEvidence
GO:0003677DNA bindingNAS
GO:0003700sequence-specific DNA binding transcription factor activityIEA
GO:0005515protein bindingIPI
GO:0043565sequence-specific DNA bindingIEA
GeneCards EMX2
UniProt Q04743
MIM 600035
Ensembl ENSG00000170370
HGNC 3341
HPRD 02495

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