NLRP6 (NLR family pyrin domain containing 6)

2017-10-01  

Identity

HGNC
NLRP6
LOCATION
11p15.5
LOCUSID
171389
ALIAS
AVR,CLR11.4,NALP6,NAVR,NAVR/AVR,PAN3,PYPAF5

Other Information

Locus ID:

NCBI: 171389
MIM: 609650
HGNC: 22944
Ensembl: ENSG00000174885

Variants:

dbSNP: 171389
ClinVar: 171389
TCGA: ENSG00000174885
COSMIC: NLRP6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174885ENST00000312165P59044
ENSG00000174885ENST00000534750P59044

Expression (GTEx)

0
10
20
30
40
50
60
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
NOD-like receptor signaling pathwayKEGGko04621
NOD-like receptor signaling pathwayKEGGhsa04621

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
123878692002Functional screening of five PYPAF family members identifies PYPAF5 as a novel regulator of NF-kappaB and caspase-1.82
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27
225035972012Aggregatibacter actinomycetemcomitans targets NLRP3 and NLRP6 inflammasome expression in human mononuclear leukocytes.22
243386342014Role of Nlrp6 and Nlrp12 in the maintenance of intestinal homeostasis.22
204031352010The genetics of NOD-like receptors in Crohn's disease.21
282141002017NLRP6: A Multifaceted Innate Immune Sensor.19
238110972013NLRP6 in infection and inflammation.11
74893661995Identification of a novel dual angiotensin II/vasopressin receptor on the basis of molecular recognition theory.7
119840032002The dual AngII/AVP receptor gene N119S/C163R variant exhibits sodium-induced dysfunction and cosegregates with salt-sensitive hypertension in the Dahl salt-sensitive hypertensive rat model.7
184137812008Overlapping genes in Nalp6/PYPAF5 locus encode two V2-type vasopressin isoreceptors: angiotensin-vasopressin receptor (AVR) and non-AVR.7

Citation

Dessen P

NLRP6 (NLR family pyrin domain containing 6)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57174/nlrp6