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FLASH GENE

Symbol

KIR3DL2

contributors: mct - updated : 22-02-2008

HGNC name	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
HGNC id	6339

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	19q13.4      Physical location : 55.361.897 - 55.378.661
Synonym name	natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens, 3DL2
	KIR antigen 3DL2
	natural killer associated transcript 4;
	NK associated transcript 4
Synonym symbol(s)	NKAT4, CD158K, CL-5, NKAT4A, NKAT4B

DNA

TYPE	functioning gene
STRUCTURE	16.00 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with two alternatively spliced (truncated) forms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NKAT4 - - 1877 70 455 - Döhring, Gedil (2007) NKAT4a - splicing 1743 - 455 - Döhring NKAT4b - splicing 1355 - 455 - Döhring

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

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 tyrosine based inhibitory motifs (ITIM)
	a 21-amino acid signal peptide
	an extracellular region containing three C2-type Ig-like domains with 3 potential N-linked glycosylation sites
	a KIR3DL interaction site seem to be largely conserved across the KIR3D family, with specificity differences mapping to a hotspot within the interaction interface
	a 20-amino acid hydrophobic transmembrane region
	and a 95-amino acid cytoplasmic domain

mono polymer

dimer

HOMOLOGY

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

receptor

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth

basic FUNCTION

inhibiting the activity of NK cells thus preventing cell lysis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	natural killer cell receptor cluster FLNKR@
	disulfide-linked dimer

INTERACTION

DNA

RNA

small molecule

protein

interacts with certain HLA-A molecules

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to autism spectrum disorder

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS