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FLASH GENE

Symbol

KIR2DL4

contributors: mct - updated : 05-12-2019

HGNC name	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
HGNC id	6332

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	10.91 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001080770 7 splicing 1505 NP_001074239 37.3 342 - 2017 28445138 also called AS NM_001080772 8 - 1609 NP_001074241 - 273 - 2017 28445138 variant 4 8 splicing 1338 isoform 4 34.1 310 - 2017 28445138 also called ASD2 NM_002255 8 splicing 1610 NP_002246 41.5 377 - 2017 28445138 also called LP variant 5 6 splicing 1158 isoform 5 26.5 245 - 2017 28445138 also called AST

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune activated B lymphocyte Lymphoid/Immune natural killer Homo sapiens Lymphoid/Immune T cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a 24-amino acid leader sequence
	a 218-amino acid extracellular domain containing 2 putative immunoglobulin-like C2-type domains
	a 20-amino acid transmembrane domain
	a 114-residue cytoplasmic tail
	one immunoreceptor tyrosine based inhibitory motif (ITIM)
	both activating and inhibitory signaling domains

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY

immunoglobulin superfamily

CATEGORY

immunity/defense , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endosome
text	type I membrane protein

basic FUNCTION	inhibiting the activity of NK cells thus preventing cell lysis or activating the cytotoxicity of NK cells
	can stimulate potent cytokine production and weak cytolytic activity in resting NK cells (Miah 2008)
	functions as an activating receptor, although it also has the potential to function as an inhibitory receptor (Li 2009)
	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 senescence induced by KIR2DL4 reprograms natural killer cells to promote vascular remodeling
	unique functional properties of KIR2DL4 may be likely mediated by self-association of the receptor
	possible involvement of human mast cells in the establishment of pregnancy via KIR2DL4 and long-term corticosteroid treatment may cause infertility by influencing the phenotypes of decidual mast cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

signal transduction

a component

INTERACTION

DNA

RNA

small molecule

protein	RNF216 is a key negative regulator of sustained KIR2DL4-mediated NFKB1 signaling from internalized KIR2DL4, which functions by promoting ubiquitylation and degradation of endocytosed receptor from early endosomes
	HLA-G ligand KIR2DL4, is mainly expressed on NK cells and CD56+ T cells with no differences between CMV+ and CMV- subjects

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   is correlated with the susceptibility of pre-eclampsia

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS