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This gene encodes a member of the immunoglobulin superfamily, which resides in the juxta-telomeric region of the major histocompatability class 1 locus and is clustered with the other family members on chromosome 6. The encoded protein may be involved in the adaptive immune response. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2013]
BTN3A2 (Butyrophilin Subfamily 3 Member A2) 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 BTN3A3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
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 |
.61
|
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 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||
SP2: | - | ||||||||||||||
SP3: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTN3A2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Btnl10 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
ManyToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768070 | Benign: not provided | 26,374,343(+) | G/A | SYNONYMOUS_VARIANT | |
770547 | Benign: not provided | 26,368,710(+) | C/T | SYNONYMOUS_VARIANT | |
rs12205731 | - | p.Ala182Thr | |||
rs13216828 | - | p.Ser307Asn | |||
rs35183513 | - | p.Arg211Lys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2673332 | CNV | deletion | 23128226 |
esv2731728 | CNV | deletion | 23290073 |
esv2731730 | CNV | deletion | 23290073 |
esv3608402 | CNV | loss | 21293372 |
esv3608403 | CNV | loss | 21293372 |
esv3608404 | CNV | gain | 21293372 |
esv3608405 | CNV | loss | 21293372 |
esv3890802 | CNV | loss | 25118596 |
nsv1023453 | CNV | gain | 25217958 |
nsv1030863 | CNV | gain+loss | 25217958 |
nsv527328 | CNV | loss | 19592680 |
nsv970085 | CNV | duplication | 23825009 |
nsv970086 | CNV | duplication | 23825009 |
No disorders were found for BTN3A2 Gene.