CD48 (CD48 molecule)

2003-11-01  

Identity

HGNC
CD48
LOCATION
1q23.3
LOCUSID
962
ALIAS
BCM1,BLAST,BLAST1,MEM-102,SLAMF2,hCD48,mCD48
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 962
MIM: 109530
HGNC: 1683
Ensembl: ENSG00000117091

Variants:

dbSNP: 962
ClinVar: 962
TCGA: ENSG00000117091
COSMIC: CD48

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117091ENST00000368045P09326
ENSG00000117091ENST00000368046P09326
ENSG00000117091ENST00000613788A0A087X1S7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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

PathwaySourceExternal ID
Natural killer cell mediated cytotoxicityKEGGko04650
Natural killer cell mediated cytotoxicityKEGGhsa04650
HemostasisREACTOMER-HSA-109582
Cell surface interactions at the vascular wallREACTOMER-HSA-202733

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
232252182013Monocyte/macrophage-elicited natural killer cell dysfunction in hepatocellular carcinoma is mediated by CD48/2B4 interactions.60
172221902007FimH-mediated Escherichia coli K1 invasion of human brain microvascular endothelial cells.38
124964122003Coexpression of CD58 or CD48 with intercellular adhesion molecule 1 on target cells enhances adhesion of resting NK cells.32
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
204530002010A Large-scale genetic association study of esophageal adenocarcinoma risk.23
208332582011CD48: A co-stimulatory receptor of immunity.21
167855012006CD48 is an allergen and IL-3-induced activation molecule on eosinophils.19
1608176820052B4/CD48-mediated regulation of lymphocyte activation and function.18
153561442004The murine NK receptor 2B4 (CD244) exhibits inhibitory function independent of signaling lymphocytic activation molecule-associated protein expression.15

Citation

Dessen P

CD48 (CD48 molecule)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/982/cd48