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FLASH GENE
Symbol BTNL2 contributors: mct/npt - updated : 01-02-2010
HGNC name butyrophilin-like 2 (MHC class II associated)
HGNC id 1142
Location 6p21.3      Physical location : 3.623.371 - 32.374.900
Synonym symbol(s) BTL2, HSBLMHC1, BTL-II, SS2
DNA
TYPE functioning gene
STRUCTURE 12.39 kb     6 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
6 - 1368 - 455 - Stammers (2000)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • a signal peptide
  • two immunoglobulin (Ig) folds
  • a larger variable-like domain
  • a smaller constant-like domain
  • a transmembrane region
  • a cytoplasmic region, heptad repeats
  • a C-terminal B30-2 domain
  • HOMOLOGY
    interspecies homolog to murine Btnl2
    Homologene
    FAMILY
  • immunoglobulin superfamily
  • BTN/MOG family
  • CATEGORY immunity/defense
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in T-cell activation
  • probably functions as a T cell costimulatory molecule (Hsueh 2009)
  • involved in the pathophysiology of Kawasaki disease (Hsueh 2009)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to sarcoidosis
  • to multiple sclerosis( secondary to the primary DRB1*15 association)
  • to Kawasaki disease (KD)
  • Variant & Polymorphism SNP
  • exon 5 SNPs G16043A and T16165C increasing the risk of sarcoidosis in Africans-Americans
  • polymorphisms might be genetic markers of KD susceptibility and risk of coronary artery complication (Hsueh 2009)
  • point mutation in exon 5 coding for a truncated protein which lacks the membrane-anchoring motif associated with isolated cardiac sarcoidosis (Meyer 2008)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS