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FLASH GENE

Symbol

KIR2DL2

contributors: mct/npt - updated : 30-04-2010

HGNC name	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
HGNC id	6330

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

text	NKAT2 del Ig 2 (Dohring)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_014219 8 - 1587 NP_055034 - 348 - Dohring (1996) variant 2 (?) - - 1454 isoform 2 (?) - 348 - Dohring (1996)

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune activated B lymphocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two immunoglobulin-like C2-type extracellular domains
	a long cytoplasmic tail
	two immunoreceptor tyrosine based inhibitory motifs (ITIM)

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

immunity/defense , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I membrane protein

basic FUNCTION	inhibiting the activity of NK cells thus preventing cell lysis
	as other KIR genes, suppressed by DNA methylation in most T cells, and DNA demethylation promotes their expression through effects on both chromatin structure and transcription factors (Liu 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to systemic sclerosis (SSc) to type 1 diabetes

Variant & Polymorphism other	association of the combination KIR2DS2(+)/KIR2DL2(-) with increased risk for SSc (Salim 2010)
	potential role of the KIR2DL2-rs2756923 polymorphism in T1D in Germans and Belgians (Ramos-Lopez 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS