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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NLRP9 Gene

protein-coding GIFtS: 48
GCID: GC19M056219

NLR family, pyrin domain containing 9

(Previous names: NACHT, leucine rich repeat and PYD containing 9 )
(Previous symbol: NALP9)

Explore 1 disease affiliated with
NLRP9 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NLR Family, Pyrin Domain Containing 9¹ ²		Nucleotide-Binding Oligomerization Domain Protein 6² ³
NALP9¹ ² ³ ⁵		PYRIN And NACHT-Containing Protein 12² ³
NOD6¹ ² ³ ⁵		NACHT, LRR And PYD Containing Protein 9²
PAN12¹ ² ³		NACHT, LRR And PYD Domains-Containing Protein 9²
CLR19.1¹ ²		Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 9²
NACHT, Leucine Rich Repeat And PYD Containing 9¹ ²

External Ids:	HGNC: 22941¹	Entrez Gene: 338321²	Ensembl: ENSG00000185792⁷	OMIM: 609663⁵	UniProtKB: Q7RTR0³

Export aliases for NLRP9 gene to outside databases

Previous GC identifers: GC19M060912 GC19M052531

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NLRP9:

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). This protein may play a regulatory role in the innate immune system as similar family

members belong to the signal-induced multiprotein complex, the inflammasome, that activates the pro-inflammatory

caspases, caspase-1 and caspase-5. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0

Function: Involved in inflammation (Potential)

Gene Wiki entry for NLRP9

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NLRP9 gene promoter:
C/EBPbeta Nkx2-5 POU3F2 C/EBPalpha AREB6 Nkx6-1 Cart-1 NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NLRP9 promoter sequence

Search SABiosciences Chromatin IP Primers for NLRP9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP9

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.42 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.43

NLRP9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP9 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19M056219: view genomic region (about GC identifiers)

Start:	56,219,798 bp from pter	End:	56,249,768 bp from pter
Size:	29,971 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0 (See protein sequence)

Recommended Name: NACHT, LRR and PYD domains-containing protein 9

Size: 991 amino acids; 113312 Da

Subcellular location: Cytoplasm (By similarity)

Secondary accessions: B2RN12 Q86W27

Alternative splicing: 2 isoforms: Q7RTR0-1 Q7RTR0-2

Explore the universe of human proteins at neXtProt for NLRP9: NX_Q7RTR0

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q7RTR0

NLRP9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_789790.2

ENSEMBL proteins:

ENSP00000331857 ENSP00000465253

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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IEA	--

NLRP9 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NLRP9 for domains About GeneDecksing

3 InterPro domains/families:

IPR007111 NACHT_NTPase

IPR004020 DAPIN

IPR011029 DEATH-like_dom

Graphical View of Domain Structure for InterPro Entry Q7RTR0

ProtoNet protein and cluster: Q7RTR0

2 Blocks protein families:

IPB001611 Leucine-rich repeat signature

IPB004020 Pyrin domain

UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0

Similarity: Belongs to the NLRP family

Similarity: Contains 1 DAPIN domain

Similarity: Contains 6 LRR (leucine-rich) repeats

Similarity: Contains 1 NACHT domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: NALP9_HUMAN, Q7RTR0

Function: Involved in inflammation (Potential)

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005524	ATP binding	IEA	--

NLRP9 for ontologies About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NLRP9

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for NLRP9 gene:

NM_176820.2

Unigene Cluster for NLRP9:

NLR family, pyrin domain containing 9

Hs.661568 [show with all ESTs]

Unigene Representative Sequence: NM_176820

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000332836(uc002qly.3) ENST00000590200

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Additional cDNA sequence:

AY154464.1 BC136583.1

2 DOTS entries:

DT.100737300 DT.300129

8 AceView cDNA sequences:

BF221992 BK001114 AW444760 NM_176820 AY154464 BX107249 AW449134 BF380801

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NLRP9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

NLRP9 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NLRP9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NLRP9

SOURCE GeneReport for Unigene cluster: Hs.661568

SABiosciences Expression via Pathway-Focused PCR Array including NLRP9:

Inflammasomes in human mouse rat

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for NLRP9 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	NLRP6⁶ --	--	28(a) 21(a)	1 ↔ many possible ortholog	GL343482.1(99797-112078) GL343281.1(869690-874415)
zebrafish (Danio rerio)	Actinopterygii	si:ch211-213a13.7⁶ si:ch211-213a13.2⁶ (see all 220)	si:ch211-213a13.2 (see all 220)	9(a) 7(a) (see all 220)	many ↔ many many ↔ many (see all 220)	22(9052770-9070772) 22(8948738-8996350)

ENSEMBL Gene Tree for NLRP9 (if available)
TreeFam Gene Tree for NLRP9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NLRP9 gene

NLRP13² NLRP4² NLRP6² NLRP3² NLRP14² NLRP7² NLRP11² NLRP10²

NLRP2² NLRP5² NLRP1² NLRP8² NLRP12²

11 SIMAP similar genes for NLRP9 using alignment to 1 protein entry: NALP9_HUMAN:

NLRP4 NLRP11 RNH1 NLRP14 NLRP8 NLRP12

NLRP13 NLRP2 NLRP7 NLRP3 NLRP5

NLRP9 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NLRP9
PGOHUM00000239958

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs199475847^1,2	C,	untested	56244175(-)	`GTGCTA/G/TGTTGG`	3	* W L	stg¹ mis¹		0	--	--	--	--
rs7256736^1,2	C,F,H,	--	56219335(+)	`TGTGGG/AAAAAG`	1	--	ds500¹		9		NS EA NA WA CSA	536
rs17700447^1,2	C	--	56219377(+)	`GTTCAT/CAATTG`	1	--	ds500¹		5		NA	138
rs182433036^1,2		--	56219451(+)	`GATTAC/TAGAAA`	1	--	ds500¹		0	--	--	--	--
rs113373439^1,2	C,	--	56219477(+)	`TATCCC/AAAGAA`	1	--	ds500¹		1		NA	2
rs115128236^1,2	F,	--	56219497(+)	`GTGCCA/CAGAGA`	1	--	ds500¹		1		WA	118
rs139956814^1,2		--	56219570(+)	`GATAAC/TTGATT`	1	--	ds500¹		0	--	--	--	--
rs188040908^1,2		--	56219576(+)	`TGATTA/GTATAA`	1	--	ds500¹		0	--	--	--	--
rs149357970^1,2		--	56219674(+)	`CTAGGC/GAATGT`	1	--	ds500¹		0	--	--	--	--
rs191777099^1,2		--	56219739(+)	`ATATAG/TTTGAA`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for NLRP9 (56219798 - 56249768 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for NLRP9
2 CNVs: 73436 3202
1 Indel: 33675

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NLRP9 for disorders           About GeneDecksing

OMIM gene information: 609663    OMIM disorders: --

1 disease for NLRP9:    About MalaCards

crohn's disease

Human Genome Epidemiology (HuGE) Navigator: NLRP9 (1 document)

Export disorders for NLRP9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NLRP9 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NLRP9)

Utopia: connect your pdf to the dynamic
world of online information

NALPs: a novel protein family involved in inflammation. (PubMed id 12563287)^{1, 2, 3} Tschopp J....Burns K. (2003)
NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)^{1, 2} Inohara N. and Nunez G. (2003)
The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)¹ Cummings J.R....Jewell D.P. (2010)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)² Gerhard D.S....Malek J. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Bovine NALP5, NALP8, and NALP9 genes: assignment to a QTL region and the expression in adult tissues, oocytes, and preimplantation embryos. (PubMed id 16339045)⁹ Ponsuksili S....Schwerin M. (2006)
Bovine mater-like NALP9 is an oocyte marker gene. (PubMed id 15892040)⁹ Dalbies-Tran R....Monget P. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 338321	HGNC: 22941	AceView: NALP9	Ensembl:ENSG00000185792	euGenes: HUgn338321
ECgene: NLRP9	H-InvDB: NLRP9

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NLRP9	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NLRP9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NLRP9 gene:
Search GeneIP for patents involving NLRP9

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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About This Section

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	OriGene Custom Antibody Services for NLRP9		OriGene Custom Protein Services for NLRP9
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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NLRP9
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NLRP9
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NLRP9
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NLRP9
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NLRP9
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	GenScript Custom Purified and Recombinant Proteins Services for NLRP9		GenScript cDNA clones with any tag delivered in your preferred vector for NLRP9
	GenScript Custom Assay Services for NLRP9		GenScript Custom Superior Antibodies Services for NLRP9
	GenScript Custom overexpressing Cell Line Services for NLRP9		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
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Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
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	Search for Antibodies for NLRP9 at Abcam
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP9

	SwitchGear 3'UTR luciferase reporter plasmids for NLRP9
	SwitchGear Promoter luciferase reporter plasmids for NLRP9

ThermoFisher Antibodies for NLRP9

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NLRP9

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes NLRP9 gene at Home site.

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NLRP9 Gene

NLR family, pyrin domain containing 9

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for NLRP9 gene

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Export list of displayed genes

NLRP9 Gene

NLR family, pyrin domain containing 9

Aliasesfor NLRP9 gene

Summariesfor NLRP9 gene

Genomic Viewsfor NLRP9 gene

Proteinsfor NLRP9 gene

Protein Domains /Familiesfor NLRP9 gene

Functionfor NLRP9 gene

Pathways & Interactionsfor NLRP9 gene

Drugs & Compoundsfor NLRP9 gene

Transcriptsfor NLRP9 gene

Expression for NLRP9 gene

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Paralogsfor NLRP9 gene

Genomic Variantsfor NLRP9 gene

Disorders / Diseasesfor NLRP9 gene

Publicationsfor NLRP9 gene

External Searches for NLRP9 gene

Genome Databases showing NLRP9 gene

Other Databases showing NLRP9 gene

Specialized Databases showing NLRP9 gene

Intellectual Propertyfor NLRP9 gene

Productsfor NLRP9 gene

View Random Gene

Aliases
for NLRP9 gene

Summaries
for NLRP9 gene

Genomic Views
for NLRP9 gene

Proteins
for NLRP9 gene

Protein Domains /
Families
for NLRP9 gene

Function
for NLRP9 gene

Pathways & Interactions
for NLRP9 gene

Drugs & Compounds
for NLRP9 gene

Transcripts
for NLRP9 gene

Expression
for NLRP9 gene

Orthologs
for NLRP9 gene

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for NLRP9 gene

Genomic Variants
for NLRP9 gene

Disorders / Diseases
for NLRP9 gene

Publications
for NLRP9 gene

Intellectual Property
for NLRP9 gene

Products
for NLRP9 gene