Gene Gene information from NCBI Gene database.
Entrez ID 126205
Gene name NLR family pyrin domain containing 8
Gene symbol NLRP8
Synonyms (NCBI Gene)
CLR19.2NALP8NOD16PAN4
Chromosome 19
Chromosome location 19q13.43
Summary This gene encodes a member of the nucleotide-binding oligomerization domain/ leucine rich repeat/ pyrin domain containing (NLRP) subfamily, which belongs to the Nod-like receptor family of proteins. NLRP genes play roles in the mammalian innate immune sys
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT540661 hsa-miR-8485 HITS-CLIP 23824327
MIRT540660 hsa-miR-329-3p HITS-CLIP 23824327
MIRT540659 hsa-miR-362-3p HITS-CLIP 23824327
MIRT540658 hsa-miR-603 HITS-CLIP 23824327
MIRT540657 hsa-miR-4789-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005524 Function ATP binding IEA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0050727 Process Regulation of inflammatory response IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609659 22940 ENSG00000179709
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86W28
Protein name NACHT, LRR and PYD domains-containing protein 8 (Nucleotide-binding oligomerization domain protein 16) (PYRIN and NACHT-containing protein 4)
Protein function Involved in inflammation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 40 115 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 204 373 NACHT domain Domain
PF17779 NOD2_WH 449 505 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 508 624 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 865 887 Leucine Rich repeat Repeat
PF13516 LRR_6 922 945 Leucine Rich repeat Repeat
PF13516 LRR_6 979 1002 Leucine Rich repeat Repeat
Sequence
MSDVNPPSDTPIPFSSSSTHSSHIPPWTFSCYPGSPCENGVMLYMRNVSHEELQRFKQLL
LTELSTGTMPITWDQVETASWAEVVHLLIERFPGRRAWDVTSNIFAIMNCDKMCV
VVRRE
INAILPTLEPEDLNVGETQVNLEEGESGKIRRYKSNVMEKFFPIWDITTWPGNQRDFFYQ
GVHRHEEYLPCLLLPKRPQGRQPKTVAIQGAPGIGKTILAKKVMFEWARNKFYAHKRWCA
FYFHCQEVNQTTDQSFSELIEQKWPGSQDLVSKIMSKPDQLLLLLDGFEELTSTLIDRLE
DLSEDWRQKLPGSVLLSSLLSKTMLPEATLLIMIRFTSWQTCKPLLKCPSLVTLPGFNTM
EKIKYFQMYFGHT
EEGDQVLSFAMENTILFSMCRVPVVCWMVCSGLKQQMERGNNLTQSC
PNATSVFVRYISSLFPTRAENFSRKIHQAQLEGLCHLAADSMWHRKWVLGKEDLEEAKLD
QTGVTAFLGMSILRRIAGEEDHYVF
TLVTFQEFFAALFYVLCFPQRLKNFHVLSHVNIQR
LIASPRGSKSYLSHMGLFLFGFLNEACASAVEQSFQCKVSFGNKRKLLKVIPLLHKCDPP
SPGSGVPQLFYCLHEIREEAFVSQ
ALNDYHKVVLRIGNNKEVQVSAFCLKRCQYLHEVEL
TVTLNFMNVWKLSSSSHPGSEAPESNGLHRWWQDLCSVFATNDKLEVLTMTNSVLGPPFL
KALAAALRHPQCKLQKLLLRRVNSTMLNQDLIGVLTGNQHLRYLEIQHVEVESKAVKLLC
RVLRSPRCRLQCLRLEDCLATPRIWTDLGNNLQGNGHLKTLILRKNSLENCGAYYLSVAQ
LERLSIENCNLTQLTCESLASCLRQSKMLTHLSLAENALKDEGAKHIWNALPHLRCPLQR
LVLRKCDLTFNCCQDMISALCKNKTLKSLDLSFNSLKDDGVILLCEALKNPDCTLQILEL
ENCLFTSICCQAMASMLRKNQHLRHLDLSKNAIGVYGILTLCEAFSSQKKREEVIFCIPA
WTRITSFSPTPHPPDFTGKSDCLSQINP
Sequence length 1048
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs41391053 RCV005904988
Clear cell carcinoma of kidney Benign rs41391053 RCV005904987
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Multiple Sclerosis Associate 36755464
Pulmonary Disease Chronic Obstructive Associate 31601004