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The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A3) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
BTN3A3 (Butyrophilin Subfamily 3 Member A3) is a Protein Coding gene. Among its related pathways are Butyrophilin (BTN) family interactions and Innate Immune System. An important paralog of this gene is BTN3A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA,HDA | 19946888 |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | Butyrophilin (BTN) family interactions | ||
3 | Innate Immune System |
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001817 | regulation of cytokine production | IBA | 21873635 |
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002456 | T cell mediated immunity | IMP | 22767497 |
GO:0050776 | regulation of immune response | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTN3A3 30 |
|
||
BTN3A1 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | BTN3A3 30 |
|
||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
Mouse (Mus musculus) |
Mammalia | Btnl4 31 |
|
ManyToMany | |
Zebrafish (Danio rerio) |
Actinopterygii | zgc:175177 30 |
|
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5927n100 | CNV | gain | 25217958 |
dgv5928n100 | CNV | loss | 25217958 |
esv2731730 | CNV | deletion | 23290073 |
esv2763996 | CNV | gain | 21179565 |
esv3576106 | CNV | gain | 25503493 |
esv3608402 | CNV | loss | 21293372 |
esv3608406 | CNV | loss | 21293372 |
esv3890802 | CNV | loss | 25118596 |
nsv1017824 | CNV | gain+loss | 25217958 |
nsv1023453 | CNV | gain | 25217958 |
nsv528172 | CNV | loss | 19592680 |
nsv601184 | CNV | gain | 21841781 |
nsv969359 | CNV | duplication | 23825009 |
No disorders were found for BTN3A3 Gene.