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FLASH GENE

Symbol

KIR2DS2

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

HGNC name	killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
HGNC id	6334

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	natural killer cell receptor cluster FLNKR@
STRUCTURE	14.30 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	alternatively spliced (truncated) forms,NKAT5 del Ig1,Ig1/Ig2 (Dohring 1996)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012312 8 splicing 1559 NP_036444 - 304 - Dohring (1996) variant 3 - splicing 1123 isoform 3 - 204 - Dohring (1996) also called NKAT5 delta Ig1 variant 2 - splicing 1129 isoform 2 - 206 - Dohring (1996) also called NKAT5 deltaIg1/Ig2

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 Blood / Hematopoietic

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two Ig extracellular domains
	a short cytoplasmic tail

HOMOLOGY

Homologene

FAMILY	immunoglobulin superfamily
	natural killer cell receptors family

CATEGORY

immunity/defense , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
text	type 1 membrane protein

basic FUNCTION	may be functioning as a receptor for class I molecules on NK cells
	may be activating NK cell activity

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 systemic lupus erythematosus (Pellett 2007)

Variant & Polymorphism other	association of the combination KIR2DS2(+)/KIR2DL2(-) with increased risk for SSc (Salim 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS