KIR2DL4 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4)

2016-05-01

Identity

HGNC

KIR2DL4

LOCATION

19q13.42

LOCUSID

3805

ALIAS

CD158D,G9P,KIR-103AS,KIR-2DL4,KIR103,KIR103AS

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: 3805
MIM: 604945
HGNC: 6332
Ensembl: ENSG00000189013

Variants:

dbSNP: 3805
ClinVar: 3805
TCGA: ENSG00000189013
COSMIC: KIR2DL4

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000189013	ENST00000345540	Q99706
ENSG00000189013	ENST00000345540	A0A376A929
ENSG00000189013	ENST00000346587	Q8N736
ENSG00000189013	ENST00000357494	Q99706
ENSG00000189013	ENST00000357494	A0A376A8K3
ENSG00000189013	ENST00000359085	A0A0B4J1S6
ENSG00000189013	ENST00000396284	E7EST5
ENSG00000189013	ENST00000396289	A8MT18
ENSG00000189013	ENST00000396293	Q99706

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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
Adaptive Immune System	REACTOME	R-HSA-1280218
Antigen processing and presentation	KEGG	ko04612
Antigen processing and presentation	KEGG	hsa04612
Immune System	REACTOME	R-HSA-168256
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	REACTOME	R-HSA-198933
Natural killer cell mediated cytotoxicity	KEGG	ko04650
Natural killer cell mediated cytotoxicity	KEGG	hsa04650

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References

Pubmed ID	Year	Title	Citations
32023940	2020	Killer Immunoglobulin-Like Receptor 2DL4 (CD158d) Regulates Human Mast Cells both Positively and Negatively: Possible Roles in Pregnancy and Cancer Metastasis.	8
32246154	2020	Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.	16
32711226	2020	Possible roles of HLA-G regulating immune cells in pregnancy and endometrial diseases via KIR2DL4.	10
34158475	2021	Interaction between HLA-G and NK cell receptor KIR2DL4 orchestrates HER2-positive breast cancer resistance to trastuzumab.	34
34158475	2021	Interaction between HLA-G and NK cell receptor KIR2DL4 orchestrates HER2-positive breast cancer resistance to trastuzumab.	34
35063466	2022	KIR2DL4 promotes the proliferation of RCC cell associated with PI3K/Akt signaling activation.	3
35063466	2022	KIR2DL4 promotes the proliferation of RCC cell associated with PI3K/Akt signaling activation.	3
35185887	2022	Roles of HLA-G/KIR2DL4 in Breast Cancer Immune Microenvironment.	12
35185887	2022	Roles of HLA-G/KIR2DL4 in Breast Cancer Immune Microenvironment.	12
35848898	2022	Clinical significance and immune landscape of KIR2DL4 and the senescence-based signature in cutaneous melanoma.	3

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Citation

Dessen P

KIR2DL4 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55769/kir2dl4-(killer-cell-immunoglobulin-like-receptor-two-ig-domains-and-long-cytoplasmic-tail-4)