Identity
HGNC
LOCATION
19q13.43
LOCUSID
ALIAS
CLR19.8,MATER,NALP5,PAN11,PYPAF8
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 126206
MIM: 609658
HGNC: 21269
Ensembl: ENSG00000171487
Variants:
dbSNP: 126206
ClinVar: 126206
TCGA: ENSG00000171487
COSMIC: NLRP5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171487 | ENST00000390649 | P59047 |
| ENSG00000171487 | ENST00000597673 | M0R0W4 |
| ENSG00000171487 | ENST00000621651 | A0A087WXM3 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35091966 | 2022 | Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest. | 6 |
| 35946397 | 2022 | Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest. | 6 |
| 35091966 | 2022 | Novel mutations in NLRP5 and PATL2 cause female infertility characterized by primarily oocyte maturation abnormality and consequent early embryonic arrest. | 6 |
| 35946397 | 2022 | Mutations in OOEP and NLRP5 identified in infertile patients with early embryonic arrest. | 6 |
| 33583041 | 2021 | Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. | 11 |
| 34431717 | 2021 | Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells. | 15 |
| 33583041 | 2021 | Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failure. | 11 |
| 34431717 | 2021 | Deubiquitination and Activation of the NLRP3 Inflammasome by UCHL5 in HCV-Infected Cells. | 15 |
| 32222962 | 2020 | A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family. | 13 |
| 32222962 | 2020 | A novel homozygous variant in NLRP5 is associate with human early embryonic arrest in a consanguineous Chinese family. | 13 |
| 30877238 | 2019 | Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest. | 44 |
| 31829238 | 2019 | The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. | 17 |
| 30877238 | 2019 | Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest. | 44 |
| 31829238 | 2019 | The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype. | 17 |
| 28501589 | 2017 | Genetic modifiers of multiple sclerosis progression, severity and onset. | 10 |
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-(nlr-family-pyrin-domain-containing-5)
