Version 5.4
| Homo sapiens Protein: BTNL2 | |||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||||||||||||
| InnateDB Protein | IDBP-80787.5 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BTNL2 | ||||||||||||||||||
| Protein Name | butyrophilin-like 2 (MHC class II associated) | ||||||||||||||||||
| Synonyms | |||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Protein | ENSP00000364132 | ||||||||||||||||||
| InnateDB Gene | IDBG-80783 (BTNL2) | ||||||||||||||||||
| Protein Structure |
|
||||||||||||||||||
| UniProt Annotation | |||||||||||||||||||
| Function | Negative regulator of T-cell proliferation. {ECO:0000250}. | ||||||||||||||||||
| Subcellular Localization | Membrane {ECO:0000269PubMed:15735647}; Single-pass type II membrane protein {ECO:0000269PubMed:15735647}. Note=Isoform 2 is present in the nuclear, vesicle and plasma membranes, isoform 3 is found in cytoplasmic vesicle structures and is not membrane bound. | ||||||||||||||||||
| Disease Associations | Sarcoidosis 2 (SS2) [MIM:612387]: An idiopathic, systemic, inflammatory disease characterized by the formation of immune granulomas in involved organs. Granulomas predominantly invade the lungs and the lymphatic system, but also skin, liver, spleen, eyes and other organs may be involved. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. A nucleotide transition affecting a splice donor site results in the use of an alternative splice site and the production of isoform 3. Individuals expressing isoform 3 have a higher risk for sarcoidosis. | ||||||||||||||||||
| Tissue Specificity | Expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis and thymus. {ECO:0000269PubMed:15735647}. | ||||||||||||||||||
| Comments | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
|
||||||||||||||||||
| Gene Ontology | |||||||||||||||||||
Molecular Function |
|
||||||||||||||||||
| Biological Process |
|
||||||||||||||||||
| Cellular Component |
|
||||||||||||||||||
| Protein Structure and Domains | |||||||||||||||||||
| PDB ID | |||||||||||||||||||
| InterPro |
IPR003596
Immunoglobulin V-set, subgroup IPR003597 Immunoglobulin C1-set IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013106 Immunoglobulin V-set domain IPR013162 CD80-like, immunoglobulin C2-set |
||||||||||||||||||
| PFAM |
PF07654
PF07686 PF08205 |
||||||||||||||||||
| PRINTS | |||||||||||||||||||
| PIRSF | |||||||||||||||||||
| SMART |
SM00406
SM00407 SM00409 |
||||||||||||||||||
| TIGRFAMs | |||||||||||||||||||
| Post-translational Modifications | |||||||||||||||||||
| Modification | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q9UIR0 | ||||||||||||||||||
| PhosphoSite | PhosphoSite-Q9UIR0 | ||||||||||||||||||
| TrEMBL | I7HPB5 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 56244 | ||||||||||||||||||
| UniGene | Hs.534471 | ||||||||||||||||||
| RefSeq | NP_062548 | ||||||||||||||||||
| HUGO | HGNC:1142 | ||||||||||||||||||
| OMIM | 606000 | ||||||||||||||||||
| CCDS | |||||||||||||||||||
| HPRD | 12077 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF186588 AF186589 AF186590 AF186591 AF186592 AF186593 AL034394 AL662796 AL670296 AL935032 AY684332 AY684333 AY881999 BC119668 BC127642 BX255945 CR753634 CR759917 Z84814 | ||||||||||||||||||
| GenPept | AAF05530 AAI19669 AAI27643 AAV91022 AAV91023 AAX35330 AAX35331 CAC69895 CAI17569 CAI17570 CAI18265 CAI18474 CAI18475 CAI18727 CAI42177 CAI42180 CAQ07562 CAQ08809 | ||||||||||||||||||