NLRP5 (NLR family pyrin domain containing 5)

2014-11-01  

Identity

HGNC
LOCATION
19q13.43
LOCUSID
ALIAS
CLR19.8,MATER,NALP5,PAN11,PYPAF8
FUSION GENES

Other Information

Locus ID:

NCBI: 126206
MIM: 609658
HGNC: 21269
Ensembl: ENSG00000171487

Variants:

dbSNP: 126206
ClinVar: 126206
TCGA: ENSG00000171487
COSMIC: NLRP5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171487ENST00000390649P59047
ENSG00000171487ENST00000597673M0R0W4
ENSG00000171487ENST00000621651A0A087WXM3

Expression (GTEx)

0
1

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
183222832008Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.43
263232432015Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans.39
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
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
119253792002A human homologue of mouse Mater, a maternal effect gene essential for early embryonic development.18
195425462009MATER protein as substrate of PKCepsilon in human cumulus cells.7
308772382019Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest.6
285015892017Genetic modifiers of multiple sclerosis progression, severity and onset.5

Citation

Dessen P

NLRP5 (NLR family pyrin domain containing 5)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70877/nlrp5