Free for academic non-profit institutions. Other users need a Commercial license
EMX1 (Empty Spiracles Homeobox 1) is a Protein Coding gene. Diseases associated with EMX1 include Amelogenesis Imperfecta, Type Iiia and Kallmann Syndrome. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is EMX2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001162 | RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IBA | 21873635 |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 20887964 |
GO:0005730 | nucleolus | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0007275 | multicellular organism development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | EMX1 31 |
|
OneToOne | |
LOC483117 30 |
|
||||
Chimpanzee (Pan troglodytes) |
Mammalia | EMX1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EMX1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Emx1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Emx1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | EMX1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EMX1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emx1.2 30 |
|
||
Str.5241 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | emx1 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | ems 31 |
|
ManyToMany | |
E5 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ceh-2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2677197 | CNV | deletion | 23128226 |
nsv1143941 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
amelogenesis imperfecta, type iiia |
|
|
kallmann syndrome |
|
|
band heterotopia |
|
|
congenital nervous system abnormality |
|
|
kaufman oculocerebrofacial syndrome |
|
|