Gene Gene information from NCBI Gene database.
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
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
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.
3
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.
32
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.
MIM HGNC e!Ensembl
600035 3341 ENSG00000170370
Protein Protein information from UniProt database.
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
GAERKQLAHSLSLTETQVKVWFQNRRTKFKR
QKLEEEGSDSQQKKKGTHHINRWRIATKQ
ASPEEIDVTSDD
Sequence length 252
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Schizencephaly Pathogenic rs2133969658, rs1564751655, rs1411887961, rs755549724 RCV000010127
RCV000010128
RCV000010129
RCV000010130
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AORTIC STENOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE CALCIFICATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital hypogonadotropic hypogonadism Conflicting classifications of pathogenicity ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 29998616
★☆☆☆☆
Found in Text Mining only
Acquired schizencephaly Schizencephaly Orphanet
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 21726823
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 31432154
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 28830374
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21726823
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum HPO_DG
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 36068227 Associate
★☆☆☆☆
Found in Text Mining only
Bronchioloalveolar Adenocarcinoma Lung adenocarcinoma BEFREE 21726823
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 21726823, 28830374, 30514244 Associate
★☆☆☆☆
Found in Text Mining only