EMX2
entrez
2018
canonical
uniprot
Q04743
canonical
ensembl
ENSG00000170370
resolver
ensp
ENSP00000450962
resolver
ensp
ENSP00000474874
resolver
genesymbol
EMX2
resolver
hgnc
HGNC:3341
resolver
uniprot
G3V305
resolver
uniprot
Q96NN8
resolver
uniprot
Q9BQF4
resolver
uniprot_entry
EMX2_HUMAN
resolver
uniprot_sec
G3V305
resolver
uniprot_sec
Q96NN8
resolver
uniprot_sec
Q9BQF4
resolver
amino_acid_sequence
MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAGRGVYSNPDLVFAEAVSHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFYPWLIHRYRYLGHRFQGNDTSPESFLLHNALARKPKRIRTAFSPSQLLRLEHAFEKNHYVVGAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKKKGTHHINRWRIATKQASPEEIDVTSDD
uniprot
proteins
disease_involvement
DISEASE: Schizencephaly (SCHZC) [MIM:269160]: 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. {ECO:0000269|PubMed:8528262}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor, which in cooperation with EMX1, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combination with OTX1/2 to specify cell fates in the developing central nervous system. In the inner ear, it controls the distribution of GPR156 at hair cell boundaries, and regulates the organization of stereociliary bundles in opposite orientations across the line of polarity reversal (LPR). {ECO:0000250|UniProtKB:Q04744}.
uniprot
proteins
mass_dalton
28303
uniprot
proteins
protein_family
EMX homeobox family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
11549315
uniprot
proteins
pubmed
1352754
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164054
uniprot
proteins
pubmed
8528262
uniprot
proteins
sequence_length
252
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q04744}. Cell projection, axon {ECO:0000250|UniProtKB:Q04744}. Note=Detected in axons within the olfactory mucosa and glomeruli in the olfactory bulb. {ECO:0000250|UniProtKB:Q04744}.
uniprot
proteins