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EMX1 (empty spiracles homeobox 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2016
Gene nameGene Name - the full gene name approved by the HGNC.
Empty spiracles homeobox 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EMX1
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p13.2
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT447814 hsa-miR-100-3p PAR-CLIP 22100165
MIRT447813 hsa-miR-3125 PAR-CLIP 22100165
MIRT447812 hsa-miR-3916 PAR-CLIP 22100165
MIRT447811 hsa-miR-6859-5p PAR-CLIP 22100165
MIRT447810 hsa-miR-3928-3p PAR-CLIP 22100165
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001701 Process In utero embryonic development IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q04741
Protein name Homeobox protein EMX1 (Empty spiracles homolog 1) (Empty spiracles-like protein 1)
Protein function Transcription factor, which in cooperation with EMX2, acts to generate the boundary between the roof and archipallium in the developing brain. May function in combinations with OTX1/2 to specify cell fates in the developing central nervous syste
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain
160 216
Homeodomain
Domain
Sequence
MFQPAAKRGFTIESLVAKDGGTGGGTGGGGAGSHLLAAAASEEPLRPTALNYPHPSAAEA
AFVSGFPAAAAAGAGRSLYGGPELVFPEAMNHPALTVHPAHQLGASPLQPPHSFFGAQHR
DPLHFYPWVLRNRFFGHRFQASDVPQDGLLLHGPFARKPKRIRTAFSPSQLLRLERAFEK
NHYVVGAERKQLAGSLSLSETQVKVWFQNRRTKYKR
QKLEEEGPESEQKKKGSHHINRWR
IATKQANGEDIDVTSND
Sequence length 257
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 28991256, 30285260, 26198764

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