KIR3DL2 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2)

2007-02-01 Affiliation

Identity

HGNC

KIR3DL2

LOCATION

19q13.42

LOCUSID

3812

ALIAS

3DL2,CD158K,KIR-3DL2,NKAT-4,NKAT4,NKAT4B,p140

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: 3812
MIM: 604947
HGNC: 6339
Ensembl: ENSG00000240403

Variants:

dbSNP: 3812
ClinVar: 3812
TCGA: ENSG00000240403
COSMIC: KIR3DL2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000240403	ENST00000270442	P43630
ENSG00000240403	ENST00000326321	P43630
ENSG00000240403	ENST00000326321	A0A0U1WNF3

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
Graft-versus-host disease	KEGG	ko05332
Antigen processing and presentation	KEGG	hsa04612
Natural killer cell mediated cytotoxicity	KEGG	hsa04650
Graft-versus-host disease	KEGG	hsa05332
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	REACTOME	R-HSA-198933

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
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
21248258	2011	Th17 cells expressing KIR3DL2+ and responsive to HLA-B27 homodimers are increased in ankylosing spondylitis.	80
12538663	2003	DNA methylation maintains allele-specific KIR gene expression in human natural killer cells.	57
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
19479859	2009	Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis.	50
18941190	2008	Estimation of the size of the alloreactive NK cell repertoire: studies in individuals homozygous for the group A KIR haplotype.	36
26928464	2016	Major histocompatibility complex class I molecules protect motor neurons from astrocyte-induced toxicity in amyotrophic lateral sclerosis.	36
20147700	2010	A novel KIR-associated function: evidence that CpG DNA uptake and shuttling to early endosomes is mediated by KIR3DL2.	33
20878400	2010	Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection.	32

Citation

Dessen P

KIR3DL2 (killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43782/kir3dl2