GediPNet logo

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 nameGene Name - the full gene name approved by the HGNC.
Empty spiracles homeobox 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
EMX2
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
10
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q26.11
SummarySummary 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,
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
SNP ID Visualize variation Clinical significance Consequence
rs200981903 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, synonymous variant
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
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
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
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 IDsOther 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
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
Sequence 
MFQPAPKRCFTIESLVAKDSPLPASRSEDPIRPAALSYANSSPINPFLNGFHSAAAAAAG
RGVYSNPDLVFAEAVSHPPNPAVPVHPVPPPHALAAHPLPSSHSPHPLFASQQRDPSTFY
PWLIHRYRYLGHRFQGNDTSPESFLLHNALARKPKRIRTAFSPSQLLRLEHAFEKNHYVV
GAERKQLAHSLSLTETQVKVWFQNRRTKFKRQKLEEEGSDSQQKKKGTHHINRWRIATKQ
ASPEEIDVTSDD
Sequence length 252
Interactions View interactions
Associated diseases
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term 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 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 17997842
Unknown
Disease name Disease term dbSNP ID References
Cerebral cortical atrophy Cerebral cortical atrophy
Female urogenital diseases Female Urogenital Diseases 16002989
Lung neoplasms Lung Neoplasms 20697358

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412