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This gene encodes a member of the immunoglobulin superfamily. The encoded protein contains a single immunoglobulin (Ig) domain and is a receptor that relays inhibitory signals to suppress the immune response. Alternative splicing results in multiple transcript variants. Polymorphisms in this gene have been associated with an increased risk of rheumatoid arthritis. [provided by RefSeq, Aug 2011]
BTLA (B And T Lymphocyte Associated) is a Protein Coding gene. Diseases associated with BTLA include Cone-Rod Dystrophy 1 and Rheumatoid Arthritis. Among its related pathways are Innate Immune System and Class I MHC mediated antigen processing and presentation.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 27152329 |
GO:0038023 | signaling receptor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Class I MHC mediated antigen processing and presentation | ||
2 | CD28 co-stimulation | ||
3 | Innate Immune System |
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002250 | adaptive immune response | IEA | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0002768 | immune response-regulating cell surface receptor signaling pathway | IBA | 21873635 |
GO:0031295 | T cell costimulation | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BTLA 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BTLA 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BTLA 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Btla 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Btla 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BTLA 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BTLA 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101732729 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | BTLA 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs16859633 | - | p.Ile124Val | |||
rs2931761 | - | p.Arg157Ser | |||
rs9288952 | - | p.Pro267Leu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv4840n100 | CNV | gain | 25217958 |
esv3333682 | CNV | insertion | 20981092 |
esv3597411 | CNV | gain | 21293372 |
nsv1005323 | CNV | gain | 25217958 |
nsv3950 | CNV | insertion | 18451855 |
nsv591293 | CNV | loss | 21841781 |
nsv591294 | CNV | gain | 21841781 |
nsv591300 | CNV | gain | 21841781 |
nsv953246 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cone-rod dystrophy 1 |
|
|
rheumatoid arthritis |
|
|
cone-rod dystrophy 2 |
|
|
systemic lupus erythematosus |
|
|