NLRP8 (NLR family pyrin domain containing 8)

2014-11-01  

Identity

HGNC
NLRP8
LOCATION
19q13.43
LOCUSID
126205
ALIAS
CLR19.2,NALP8,NOD16,PAN4

Other Information

Locus ID:

NCBI: 126205
MIM: 609659
HGNC: 22940
Ensembl: ENSG00000179709

Variants:

dbSNP: 126205
ClinVar: 126205
TCGA: ENSG00000179709
COSMIC: NLRP8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179709ENST00000291971Q86W28
ENSG00000179709ENST00000590542Q86W28

Expression (GTEx)

0
1
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190748852008Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia.25
204031352010The genetics of NOD-like receptors in Crohn's disease.21

Citation

Dessen P

NLRP8 (NLR family pyrin domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70879/nlrp8