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homeobox protein EMX2; empty spiracles homolog 2; empty spiracles-like protein 2 (EMX2)
Function:
- transcription factor, which in cooperation with EMX2, acts to generate boundary between the roof & archipallium in the developing brain
- may function in combinations with OTX1/2 to specify cell fates in the developing central nervous system
Structure:
- belongs to the EMX homeobox family
- contains 1 homeobox DNA-binding domain
Compartment: nucleus (probable)
Expression: cerebral cortex
Pathology:
- defects in EMX2 are the cause of schizencephaly
General
homeobox protein
Properties
SIZE: entity length = 252 aa
MW = 28 kD
COMPARTMENT: cell nucleus
MOTIF: alanine-rich region {54-59}
MOTIF: alanine residue (SEVERAL)
homeodomain
SITE: 154-213
Database Correlations
OMIM correlations
UniProt Q04743
Pfam PF00046
Entrez Gene 2018
Kegg hsa:2018
References
- UniProt :accession Q04743
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=EMX2