NLRP7 (NLR family pyrin domain containing 7)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
199713
Gene name Gene Name - the full gene name approved by the HGNC.
NLR family pyrin domain containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NLRP7
Synonyms (NCBI Gene) Gene synonyms aliases
CLR19.4, HYDM, NALP7, NOD12, PAN7, PYPAF3
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the NACHT, leucine rich repeat, and PYD containing (NLRP) protein family. It has an N-terminal pyrin domain, followed by a NACHT domain, a NACHT-associated domain (NAD), and a C-terminal leucine-rich repeat (LRR) region. NLRP
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
SNP ID Visualize variation Clinical significance Consequence
rs104895504 C>T Pathogenic Splice donor variant
rs104895530 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs104895548 A>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs104895553 ->C Pathogenic Coding sequence variant, non coding transcript variant, frameshift variant
rs746150420 G>A Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT018316 hsa-miR-335-5p Microarray 18185580
MIRT1187289 hsa-miR-1303 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0010955 Process Negative regulation of protein processing IDA 15817483
GO:0019828 Function Aspartic-type endopeptidase inhibitor activity IDA 15817483
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609661 22947 ENSG00000167634
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WX94
Protein name NACHT, LRR and PYD domains-containing protein 7 (Nucleotide-binding oligomerization domain protein 12) (PYRIN-containing APAF1-like protein 3)
Protein function Inhibits CASP1/caspase-1-dependent IL1B secretion.
PDB 2KM6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 9 → 85 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 172 → 340 NACHT domain Domain
PF17779 NOD2_WH 410 → 466 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 468 → 586 NLRC4 helical domain HD2 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in numerous tissues including uterus and ovary, with low levels in heart and brain. Not detected in skeletal muscle. {ECO:0000269|PubMed:15817483, ECO:0000269|PubMed:16462743}.
Sequence 
MTSPQLEWTLQTLLEQLNEDELKSFKSLLWAFPLEDVLQKTPWSEVEEADGKKLAEILVN
TSSENWIRNATVNILEEMNLTELCKMAKAEMMEDGQVQEIDNPELGDAEEDSELAKPGEK
EGWRNSMEKQSLVWKNTFWQGDIDNFHDDVTLRNQRFIPFLNPRTPRKLTPYTVVLHGPA
GVGKTTLAKKCMLDWTDCNLSPTLRYAFYLSCKELSRMGPCSFAELISKDWPELQDDIPS
ILAQAQRILFVVDGLDELKVPPGALIQDICGDWEKKKPVPVLLGSLLKRKMLPRAALLVT
TRPRALRDLQLLAQQPIYVRVEGFLEEDRRAYFLRHFGDEDQAMRAFELMRSNAALFQLG
SAPAVCWIVCTTLKLQMEKGEDPVPTCLTRTGLFLRFLCSRFPQGAQLRGALRTLSLLAA
QGLWAQMSVFHREDLERLGVQESDLRLFLDGDILRQDRVSKGCYSFIHLSFQQFLTALFY
ALEKEEGEDRDGHAWDIGDVQKLLSGEERLKNPDLIQVGHFLFGLANEKRAKELEATFGC
RMSPDIKQELLQCKAHLHANKPLSVTDLKEVLGCLYESQEEELAKVVVAPFKEISIHLTN
TSEVMHCSFSLKHCQDLQKLSLQVAKGVFLENYMDFELDIEFERCTYLTIPNWARQDLRS
LRLWTDFCSLFSSNSNLKFLEVKQSFLSDSSVRILCDHVTRSTCHLQKVEIKNVTPDTAY
RDFCLAFIGKKTLTHLTLAGHIEWERTMMLMLCDLLRNHKCNLQYLRLGGHCATPEQWAE
FFYVLKANQSLKHLRLSANVLLDEGAMLLYKTMTRPKHFLQMLSLENCRLTEASCKDLAA
VLVVSKKLTHLCLAKNPIGDTGVKFLCEGLSYPDCKLQTLVLQQCSITKLGCRYLSEALQ
EACSLTNLDLSINQIARGLWILCQALENPNCNLKHLRLKTYETNLEIKKLLEEVKEKNPK
LTIDCNASGATAPPCCDFFC
Sequence length 980
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  NOD-like receptor signaling pathway  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hydatidiform Mole hydatidiform mole, recurrent, 1, hydatidiform mole rs104895512, rs104895504, rs104895553, rs104895505, rs104895506, rs104895547, rs104895502, rs2069070395, rs104895503, rs2068825510, rs104895530, rs104895548, rs104895549, rs104895554, rs104895525 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Complete Hydatidiform Mole complete hydatidiform mole N/A N/A GenCC
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 21421271
Abortion Spontaneous Associate 21421271, 25082979, 28810880
Adenocarcinoma of Lung Associate 35866781
Atrophy Associate 21421271, 28561018
Birk Barel Mental Retardation Dysmorphism Syndrome Associate 35296332
Carcinoma Hepatocellular Associate 35242200
Colitis Ulcerative Associate 29211899
Colorectal Neoplasms Associate 35836259
Crohn Disease Associate 29211899
Endometrial Neoplasms Associate 18751440