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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

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine small 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