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Butyrophilin is the major protein associated with fat droplets in the milk. This gene is a member of the BTN2 subfamily of genes, which encode proteins belonging to the butyrophilin protein family. The gene is located in a cluster on chromosome 6, consisting of seven genes belonging to the expanding B7/butyrophilin-like group, a subset of the immunoglobulin gene superfamily. The encoded protein is a type I receptor glycoprotein involved in lipid, fatty-acid and sterol metabolism. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
BTN2A2 (Butyrophilin Subfamily 2 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 BTN2A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005102 | signaling receptor binding | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0009897 | external side of plasma membrane | IBA | 21873635 |
GO:0009986 | cell surface | IEA | -- |
GO:0016020 | membrane | IEA | -- |
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:0014067 | negative regulation of phosphatidylinositol 3-kinase signaling | IEA | -- |
GO:0031324 | negative regulation of cellular metabolic process | ISS | -- |
GO:0045591 | positive regulation of regulatory T cell differentiation | IEA | -- |
GO:0046007 | negative regulation of activated T cell proliferation | ISS | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | ||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||
SP5: | - | ||||||||||||||||||||||||||||
SP6: | - | - | - | ||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||
SP8: |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTN2A2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BTN2A2 30 |
|
||
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Btn2a2 30 17 31 |
|
OneToMany | |
Rat (Rattus norvegicus) |
Mammalia | Btn2a2 30 |
|
||
Cow (Bos Taurus) |
Mammalia | BTN2A1 30 |
|
||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
720365 | Benign: not provided | 26,390,079(+) | T/G | MISSENSE_VARIANT | |
778227 | Benign: not provided | 26,392,830(+) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
782472 | Benign: not provided | 26,392,677(+) | C/T | MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT | |
790029 | Benign: not provided | 26,383,832(+) | C/T | MISSENSE_VARIANT | |
790030 | Benign: not provided | 26,385,035(+) | C/G | MISSENSE_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2731728 | CNV | deletion | 23290073 |
esv2731730 | CNV | deletion | 23290073 |
esv3608402 | CNV | loss | 21293372 |
esv3608403 | CNV | loss | 21293372 |
esv3608404 | CNV | gain | 21293372 |
esv3890802 | CNV | loss | 25118596 |
nsv1023453 | CNV | gain | 25217958 |
nsv1030863 | CNV | gain+loss | 25217958 |
nsv601184 | CNV | gain | 21841781 |
nsv970087 | CNV | duplication | 23825009 |
No disorders were found for BTN2A2 Gene.