NLRP7 (NLR family pyrin domain containing 7)

2008-09-01  

Identity

HGNC
NLRP7
LOCATION
19q13.42
LOCUSID
199713
ALIAS
CLR19.4,HYDM,NALP7,NOD12,PAN7,PYPAF3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 199713
MIM: 609661
HGNC: 22947
Ensembl: ENSG00000167634

Variants:

dbSNP: 199713
ClinVar: 199713
TCGA: ENSG00000167634
COSMIC: NLRP7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167634ENST00000328092Q8WX94
ENSG00000167634ENST00000340844Q8WX94
ENSG00000167634ENST00000586379K7ERG0
ENSG00000167634ENST00000587103K7EP54
ENSG00000167634ENST00000587844K7ER92
ENSG00000167634ENST00000588756Q8WX94
ENSG00000167634ENST00000590030Q8WX94
ENSG00000167634ENST00000590659K7EPY3
ENSG00000167634ENST00000592784Q8WX94

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
N/A

References

Pubmed IDYearTitleCitations
223610072012An NLRP7-containing inflammasome mediates recognition of microbial lipopeptides in human macrophages.118
164627432006Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans.99
158174832005PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.45
158174832005PYPAF3, a PYRIN-containing APAF-1-like protein, is a feedback regulator of caspase-1-dependent interleukin-1beta secretion.45
180396802008A recurrent intragenic genomic duplication, other novel mutations in NLRP7 and imprinting defects in recurrent biparental hydatidiform moles.33
192464792009Identification of 13 novel NLRP7 mutations in 20 families with recurrent hydatidiform mole; missense mutations cluster in the leucine-rich region.29
265441892015Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.28
220256182011NLRP7, a nucleotide oligomerization domain-like receptor protein, is required for normal cytokine secretion and co-localizes with Golgi and the microtubule-organizing center.24
175793542007Women heterozygous for NALP7/NLRP7 mutations are at risk for reproductive wastage: report of two novel mutations.21
204031352010The genetics of NOD-like receptors in Crohn's disease.21

Citation

Dessen P

NLRP7 (NLR family pyrin domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50371/nlrp7