Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
338321
Gene name Gene Name - the full gene name approved by the HGNC.
NLR family pyrin domain containing 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NLRP9
Synonyms (NCBI Gene) Gene synonyms aliases
CLR19.1, NALP9, NOD6, PAN12
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.
The protein encoded by this gene belongs to the NALP protein family. Members of the NALP protein family typically contain a NACHT domain, a NACHT-associated domain (NAD), a C-terminal leucine-rich repeat (LRR) region, and an N-terminal pyrin domain (PYD).
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT517359 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT517356 hsa-miR-4648 HITS-CLIP 21572407
MIRT517355 hsa-miR-1233-5p HITS-CLIP 21572407
MIRT517354 hsa-miR-6778-5p HITS-CLIP 21572407
MIRT517353 hsa-miR-4654 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28636595
GO:0005524 Function ATP binding IEA
GO:0006954 Process Inflammatory response IEA
GO:0032741 Process Positive regulation of interleukin-18 production ISS
GO:0045087 Process Innate immune response ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609663 22941 ENSG00000185792
Protein
UniProt ID Q7RTR0
Protein name NACHT, LRR and PYD domains-containing protein 9 (Nucleotide-binding oligomerization domain protein 6) (PYRIN and NACHT-containing protein 12)
Protein function As the sensor component of the NLRP9 inflammasome, plays a crucial role in innate immunity and inflammation. In response to pathogens, including rotavirus, initiates the formation of the inflammasome polymeric complex, made of NLRP9, PYCARD and
PDB 6Z2G , 7BSO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02758 PYRIN 10 86 PAAD/DAPIN/Pyrin domain Domain
PF05729 NACHT 146 314 NACHT domain Domain
PF17779 NOD2_WH 390 443 NOD2 winged helix domain Domain
PF17776 NLRC4_HD2 445 560 NLRC4 helical domain HD2 Domain
PF13516 LRR_6 740 763 Leucine Rich repeat Repeat
PF13516 LRR_6 854 877 Leucine Rich repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed in ileum intestinal epithelial cells. Not detected in peripheral blood mononuclear cells (PubMed:28636595). Expressed in cerebral endothelial cells and, at much lower levels, in brain pericytes (PubMed:28432035). {ECO:0000269
Sequence
MAESFFSDFGLLWYLKELRKEEFWKFKELLKQPLEKFELKPIPWAELKKASKEDVAKLLD
KHYPGKQAWEVTLNLFLQINRKDLWT
KAQEEMRNKLNPYRKHMKETFQLIWEKETCLHVP
EHFYKETMKNEYKELNDAYTAAARRHTVVLEGPDGIGKTTLLRKVMLDWAEGNLWKDRFT
FVFFLNVCEMNGIAETSLLELLSRDWPESSEKIEDIFSQPERILFIMDGFEQLKFNLQLK
ADLSDDWRQRQPMPIILSSLLQKKMLPESSLLIALGKLAMQKHYFMLRHPKLIKLLGFSE
SEKKSYFSYFFGEK
SKALKVFNFVRDNGPLFILCHNPFTCWLVCTCVKQRLERGEDLEIN
SQNTTYLYASFLTTVFKAGSQSFPPKVNRARLKSLCALAAEGIWTYTFVFSHGDLRRNGL
SESEGVMWVGMRLLQRRGDCFAF
MHLCIQEFCAAMFYLLKRPKDDPNPAIGSITQLVRAS
VVQPQTLLTQVGIFMFGISTEEIVSMLETSFGFPLSKDLKQEITQCLESLSQCEADREAI
AFQELFIGLFETQEKEFVTK
VMNFFEEVFIYIGNIEHLVIASFCLKHCQHLTTLRMCVEN
IFPDDSGCISDYNEKLVYWRELCSMFITNKNFQILDMENTSLDDPSLAILCKALAQPVCK
LRKLIFTSVYFGHDSELFKAVLHNPHLKLLSLYGTSLSQSDIRHLCETLKHPMCKIEELI
LGKCDISSEVCEDIASVLACNSKLKHLSLVENPLRDEGMTLLCEALKHSHCALERLMLMY
CCLTSVSCDSISEVLLCSKSLSLLDLGSNALEDNGVASLCAALKHPGCSIRELWLMGCFL
TSDSCKDIAAVLICNGKLKTLKLGHNEIGDTGVRQLCAALQHPHCKLECLGLQTCPITRA
CCDDIAAALIACKTLRSLNLDWIALDADAVVVLCEALSHPDCALQMLGLHKSGFDEETQK
ILMSVEEKIPHLTISHGPWIDEEYKIRGVLL
Sequence length 991
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Unknown
Disease term Disease name Evidence References Source
Mental Depression Mental Depression GWAS
Associations from Text Mining
Disease Name Relationship Type References
Anodontia Associate 34257569
Colorectal Neoplasms Associate 34257569
Myocardial Infarction Associate 35229543
Neoplasms Associate 34257569
Oropharyngeal Neoplasms Associate 35459784
Stomach Diseases Associate 34257569
Xerostomia Associate 35459784