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butyrophilin-like protein 2; BTL-II (BTNL2)
Function:
- negative regulator of T-cell proliferation
Structure:
- belongs to the immunoglobulin superfamily, BTN/MOG family
- contains 3 Ig-like V-type domains (immunoglobulin-like)
Compartment:
- membrane; single-pass type 2 membrane protein
- isoform 2 is present in the nuclear membranes, vesicle membranes & plasma membranes
- isoform 3 (form associated with risk for sarcoidosis)
- found in cytoplasmic vesicle structures
- not membrane bound
Alternative splicing: named isoforms=6
Expression:
- expressed in brain, heart, kidney, liver, pancreas, ovary, leukocyte, small intestine, testis & thymus
- induced by proinflammatory cytokines such as TNF & IL1B
Pathology:
- genetic variation in BTNL2 is a cause of susceptibility to sarcoidosis type 2
- a nucleotide transition affecting a splice donor site results in the use of an alternative splice site & the production of isoform 3
- individuals expressing isoform 3 have a higher risk for sarcoidosis
General
human longevity protein
immunoglobulin superfamily protein
secreted protein
Properties
SIZE: MW = 50 kD
entity length = 455 aa
COMPARTMENT: extracellular compartment
MOTIF: signal sequence {1-26}
immunoglobulin superfamily domain {29-140}
MOTIF: cysteine residue {C50}
MODIFICATION: cysteine residue {C124}
cysteine residue {C124}
MODIFICATION: cysteine residue {C50}
immunoglobulin superfamily domain {142-234}
MOTIF: cysteine residue {C164}
MODIFICATION: cysteine residue {C218}
N-glycosylation site {N210}
cysteine residue {C218}
MODIFICATION: cysteine residue {C164}
immunoglobulin superfamily domain {236-355}
MOTIF: cysteine residue {C267}
MODIFICATION: cysteine residue {C341}
cysteine residue {C341}
MODIFICATION: cysteine residue {C267}
N-glycosylation site {N427}
Database Correlations
OMIM correlations
MORBIDMAP 606000
UniProt Q9UIR0
PFAM correlations
Entrez Gene 56244
Kegg hsa:56244
References
UniProt :accession Q9UIR0