KIR2DS4 (killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4)

2007-02-01 Affiliation

Identity

HGNC

KIR2DS4

LOCATION

19q13.42

LOCUSID

3809

ALIAS

CD158I,KIR-2DS4,KIR1D,KIR412,KKA3,NKAT-8,NKAT8

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3809
MIM: 604955
HGNC: 6336
Ensembl: ENSG00000221957

Variants:

dbSNP: 3809
ClinVar: 3809
TCGA: ENSG00000221957
COSMIC: KIR2DS4

RNA/Proteins

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Antigen processing and presentation	KEGG	ko04612
Natural killer cell mediated cytotoxicity	KEGG	ko04650
Antigen processing and presentation	KEGG	hsa04612
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA450428	methotrexate	Chemical	MultilinkAnnotation	associated			25069714

References

Pubmed ID	Year	Title	Citations
18945962	2009	Donors with group B KIR haplotypes improve relapse-free survival after unrelated hematopoietic cell transplantation for acute myelogenous leukemia.	166
23325834	2013	NK cell responses to cytomegalovirus infection lead to stable imprints in the human KIR repertoire and involve activating KIRs.	162
19858347	2009	KIR2DS4 is a product of gene conversion with KIR3DL2 that introduced specificity for HLA-A*11 while diminishing avidity for HLA-C.	97
19934297	2009	KIR and HLA genotypes are associated with disease progression and survival following autologous hematopoietic stem cell transplantation for high-risk neuroblastoma.	50
17200871	2007	KIR haplotype content at the allele level in 77 Northern Irish families.	36
20878400	2010	Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection.	32
19846535	2010	Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection.	31
15265913	2004	MHC class I-independent recognition of NK-activating receptor KIR2DS4.	27
18444913	2008	The number of activating KIR genes inversely correlates with the rate of CMV infection/reactivation in kidney transplant recipients.	24
21216870	2011	Impact of a functional KIR2DS4 allele on heterosexual HIV-1 transmission among discordant Zambian couples.	23

Citation

Dessen P

KIR2DS4 (killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46006/kir2ds4