EMX2 (empty spiracles homeobox 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID 2018
Gene name Empty spiracles homeobox 2
Gene symbol EMX2
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q26.11
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,
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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.
460
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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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 Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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Transcription factor Regulation Reference
HOXA10 Activation 15494461
HOXA10 Repression 12482956;15126568;17350963
PBX2 Activation 15494461
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600035 3341 ENSG00000170370
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Schizencephaly Pathogenic rs2133969658, rs1564751655, rs1411887961, rs755549724 RCV000010127
RCV000010128
RCV000010129
RCV000010130
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital hypogonadotropic hypogonadism Conflicting classifications of pathogenicity rs200981903 RCV005407922
EMX2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs756693906, rs375691102, rs200981903 RCV003917597
RCV003894690
RCV004757274
Show/Hide Text Mining Associations (24)
Associations from Text MiningDisease associations identified through Pubtator
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