EMX2 (empty spiracles homeobox 2)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2018
Gene name Gene Name - the full gene name approved by the HGNC.
Empty spiracles homeobox 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMX2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
Summary Summary of gene provided in NCBI Entrez Gene.
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,
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs200981903 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(460)
miRTarBase ID miRNA Experiments Reference
MIRT017246 hsa-miR-335-5p Microarray 18185580
MIRT609691 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT609690 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT609689 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT609688 hsa-miR-3160-5p HITS-CLIP 23824327
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
HOXA10 Activation 15494461
HOXA10 Repression 12482956;15126568;17350963
PBX2 Activation 15494461
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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:0005515 Function Protein binding IPI 15247416, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600035 3341 ENSG00000170370
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q04743
Protein name Homeobox protein EMX2 (Empty spiracles homolog 2) (Empty spiracles-like protein 2)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 155 → 211 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Cerebral cortex.
Sequence 
MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAG
RGVYSNPDLVFAEAVSHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFY
PWLIHRYRYLGHRFQGNDTSPESFLLHNALARKPKRIRTAFSPSQLLRLEHAFEKNHYVV
GAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKKKGTHHINRWRIATKQ
ASPEEIDVTSDD
Sequence length 252
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 20697358
Schizencephaly Schizencephaly, Familial schizencephaly, Acquired schizencephaly rs2133969658, rs1564751655, rs1411887961, rs755549724, rs387906867 9359037, 9153481
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 17997842
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Conduct Disorder Conduct Disorder GWAS
Gout Gout GWAS
Show/Hide Text Mining Associations (24)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Bronchiolo Alveolar Associate 21726823
Adenocarcinoma of Lung Inhibit 21726823
Autism Spectrum Disorder Associate 36068227
Carcinogenesis Associate 21726823, 28830374, 30514244
Carcinoma Renal Cell Associate 37065178
Carcinoma Squamous Cell Associate 26132438
Cell Transformation Neoplastic Inhibit 34364391
Colorectal Neoplasms Inhibit 28830374
Disorder of Sex Development 46 XY Associate 29998616
Glioblastoma Inhibit 30514244