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EFR3B (EFR3 Homolog B) is a Protein Coding gene. Diseases associated with EFR3B include Gastrointestinal Defects And Immunodeficiency Syndrome and Hypomyelinating Leukoencephalopathy. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is EFR3A.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 23229899 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IDA | 23229899 |
GO:0015629 | actin cytoskeleton | IDA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0046854 | phosphatidylinositol phosphorylation | IDA | 23229899 |
GO:0072659 | protein localization to plasma membrane | IDA | 23229899 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EFR3B 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EFR3B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | EFR3B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EFR3B 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Efr3b 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Efr3b 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EFR3B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | efr3b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | efr3ba 31 |
|
OneToMany | |
efr3bb 30 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012183 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | stmA 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C32D5.3 30 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv57n68 | CNV | loss | 17160897 |
esv1006182 | OTHER | inversion | 20482838 |
esv24844 | CNV | gain | 19812545 |
esv2666849 | CNV | deletion | 23128226 |
esv2762426 | CNV | loss | 21179565 |
esv33372 | CNV | loss | 17666407 |
esv3590085 | CNV | gain | 21293372 |
esv3590086 | CNV | loss | 21293372 |
esv3590087 | CNV | loss | 21293372 |
esv3590089 | CNV | loss | 21293372 |
nsv1008732 | CNV | loss | 25217958 |
nsv1133465 | CNV | deletion | 24896259 |
nsv2647 | CNV | insertion | 18451855 |
nsv997725 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
gastrointestinal defects and immunodeficiency syndrome |
|
|
hypomyelinating leukoencephalopathy |
|
|