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
390528362024HLA-C expression in extravillous trophoblasts is determined by an ELF3-NLRP2/NLRP7 regulatory axis.0
390528362024HLA-C expression in extravillous trophoblasts is determined by an ELF3-NLRP2/NLRP7 regulatory axis.0
365443922023Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.0
369801992023NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.1
371483152023NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.0
372731142023Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.2
365443922023Novo pathogenic variations of NLRP7 increasing the risk of gestational trophoblastic neoplasia.0
369801992023NLRP7 Enhances Choriocarcinoma Cell Survival and Camouflage in an Inflammasome Independent Pathway.1
371483152023NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest.0
372731142023Gene body hypomethylation of pyroptosis-related genes NLRP7, NLRP2, and NLRP3 facilitate non-invasive surveillance of hepatocellular carcinoma.2
332522872022Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.1
358427882022Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.5
361840852022[Analysis of three Chinese pedigrees affected with recurrent hydatidiform mole due to variants of NLRP7 gene].0
332522872022Detection of Parental Contribution to Molar Genome Leads to Diagnosis of Recurrent Hydatidiform Mole in a Family with NLRP7 Variants.1
358427882022Biallelic NLRP7 variants in patients with recurrent hydatidiform mole: A review and expert consensus.5

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/img/deep-insight-explorer/