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This gene encodes a major histocompatibility complex, class II associated, type I transmembrane protein which belongs to the butyrophilin-like B7 family of immunoregulators. It is thought to be involved in immune surveillance, serving as a negative T-cell regulator by decreasing T-cell proliferation and cytokine release. The encoded protein contains an N-terminal signal peptide, two pairs of immunoglobulin-like domains, separated by a heptad peptide sequence, and a C-terminal transmembrane domain. Naturally occurring mutations in this gene are associated with sarcoidosis, rheumatoid arthritis, ulcerative colitis, inflammatory bowel disease, myositis, type 1 diabetes, systemic lupus erythematosus, acute coronary syndrome, and prostate cancer. [provided by RefSeq, May 2017]
BTNL2 (Butyrophilin Like 2) is a Protein Coding gene. Diseases associated with BTNL2 include Sarcoidosis 2 and Sarcoidosis 1. Among its related pathways are Butyrophilin (BTN) family interactions and Innate Immune System. Gene Ontology (GO) annotations related to this gene include signaling receptor binding. An important paralog of this gene is BTN2A1.
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 | -- |
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:0042102 | positive regulation of T cell proliferation | IEA | -- |
GO:0050776 | regulation of immune response | IBA | 21873635 |
GO:0050852 | T cell receptor signaling pathway | IBA | 21873635 |
GO:0050860 | negative regulation of T cell receptor signaling pathway | IEA | -- |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | BTNL2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BTNL2 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Btnl2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Btnl2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | BTNL2 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
731754 | Benign: not provided | 32,407,088(-) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
768075 | Benign: not provided | 32,403,082(-) | C/T | MISSENSE_VARIANT | |
791141 | Benign: not provided | 32,394,902(-) | G/A | MISSENSE_VARIANT | |
809911 | Uncertain Significance: not provided | 32,403,013(-) | C/T | MISSENSE_VARIANT | |
809912 | Uncertain Significance: not provided | 32,403,111(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1011n67 | CNV | loss | 20364138 |
dgv1012n67 | CNV | loss | 20364138 |
dgv10404n54 | CNV | loss | 21841781 |
dgv10463n54 | CNV | loss | 21841781 |
dgv10472n54 | CNV | loss | 21841781 |
dgv1755e212 | CNV | loss | 25503493 |
esv2731830 | CNV | deletion | 23290073 |
esv2759416 | CNV | gain+loss | 17122850 |
esv33644 | CNV | loss | 17666407 |
esv3570969 | CNV | loss | 25503493 |
esv3570970 | CNV | loss | 25503493 |
esv3570971 | CNV | loss | 25503493 |
nsv1073969 | CNV | deletion | 25765185 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv428142 | CNV | gain+loss | 18775914 |
nsv7882 | CNV | loss | 18304495 |
nsv830630 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
sarcoidosis 2 |
|
|
sarcoidosis 1 |
|
|
orofacial granulomatosis |
|
|
ulcerative colitis |
|
|
colitis |
|
|