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NLRP14 Gene

protein-coding GIFtS: 51
GCID: GC11P007017

NLR Family, Pyrin Domain Containing 14

(Previous names: NACHT, leucine rich repeat and PYD containing 14)
(Previous symbol: NALP14)

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
NLR Family, Pyrin Domain Containing 14¹ ²		CLR11.2²
NALP14¹ ² ³ ⁵		GC-LRR²
NOD5² ³ ⁵		PAN8²
NACHT, Leucine Rich Repeat And PYD Containing 14¹ ²		NACHT, LRR And PYD Containing Protein 14²
Nucleotide-Binding Oligomerization Domain Protein 5² ³		NACHT, LRR And PYD Domains-Containing Protein 14²
Leucine Rich Repeat And Pyrin Domain Containing 14¹		Nucleotide-Binding Oligomerization Domain, Leucine Rich Repeat And Pyrin Domain Containing 14²
Nucleotide-Binding Oligomerization Domain¹		NLRP1⁵

External Ids:	HGNC: 22939¹	Entrez Gene: 338323²	Ensembl: ENSG00000158077⁷	OMIM: 609665⁵	UniProtKB: Q86W24³

Export aliases for NLRP14 gene to outside databases

Previous GC identifer: GC11P006700

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NLRP14 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). 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)

GeneCards Summary for NLRP14 Gene:

NLRP14 (NLR family, pyrin domain containing 14) is a protein-coding gene. An important paralog of this gene is NLRP4.

UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24

Function: May be involved in inflammation and spermatogenesis

Gene Wiki entry for NLRP14 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000011.9 NT_009237.19 NC_018922.2

Regulatory elements:

Regulatory transcription factor binding sites in the NLRP14 gene promoter:
NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NLRP14 promoter sequence

Search Chromatin IP Primers for NLRP14

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP14

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

Entrez Gene cytogenetic band: 11p15.4 Ensembl cytogenetic band: 11p15.4 HGNC cytogenetic band: 11p15.4

NLRP14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NLRP14 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11P007017: view genomic region (about GC identifiers)

Start:	7,041,677 bp from pter	End:	7,092,757 bp from pter
Size:	51,081 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24 (See protein sequence)

Recommended Name: NACHT, LRR and PYD domains-containing protein 14

Size: 1093 amino acids; 124733 Da

Developmental stage: In the testis, expressed mainly in A dark spermatogonia, mid and late spermatocytes and

spermatids but not in mitotically active A pale and B spermatogonia

Secondary accessions: Q7RTR6

Explore the universe of human proteins at neXtProt for NLRP14: NX_Q86W24

Explore proteomics data for NLRP14 at MOPED

See NLRP14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_789792.1

ENSEMBL proteins:

ENSP00000299481

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

NLR: Nucleotide-binding domain and leucine rich repeat containing

IUPHAR Guide to PHARMACOLOGY protein family classification: NLRP14

NOD-like receptor family

4 InterPro protein domains:

IPR007111 NACHT_NTPase

IPR027417 P-loop_NTPase

IPR004020 DAPIN

IPR011029 DEATH-like_dom

Graphical View of Domain Structure for InterPro Entry Q86W24

ProtoNet protein and cluster: Q86W24

1 Blocks protein domain: IPB004020 Pyrin domain

UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24

Similarity: Belongs to the NLRP family

Similarity: Contains 1 DAPIN domain

Similarity: Contains 11 LRR (leucine-rich) repeats

Similarity: Contains 1 NACHT domain

Find genes that share domains with NLRP14 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: NAL14_HUMAN, Q86W24

Function: May be involved in inflammation and spermatogenesis

Gene Ontology (GO): 1 molecular function term: About this table

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

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Phenotypes:
1 GenomeRNAi human phenotype for NLRP14:

Decreased viability after Chla

Animal Models:

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS:

Compartment	Confidence
cytosol	3

About this image

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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Interactions:

Search GeneGlobe Interaction Network for NLRP14

Gene Ontology (GO): 3 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007275	multicellular organismal development	IEA	--
GO:0007283	spermatogenesis	IMP	16931801
GO:0030154	cell differentiation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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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REFSEQ mRNAs for NLRP14 gene:

NM_176822.3

Unigene Cluster for NLRP14:

NLR family, pyrin domain containing 14

Hs.449637 [show with all ESTs]

Unigene Representative Sequence: AK310900

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000299481(uc001mfb.1)

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Additional mRNA sequence:

AK310900.1 AY154469.1

1 DOTS entry:

DT.40203418

4 AceView cDNA sequences:

AY154469 NM_176822 BK001107 C15474

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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NLRP14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTGTCTGGAT

About this image

NLRP14 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 2) fully expand


Ovary (Reproductive System)
Secondary follicles

Testis (Reproductive System)

NLRP14 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

NLRP14 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.449637

UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24

Tissue specificity: Testis-specific

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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)
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This gene was present in the common ancestor of chordates.

Orthologs for NLRP14 gene from Selected species (see all 7) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nlrp14^{1 , 5}	NLR family, pyrin domain containing 14^{1, 5}	70.54(n)¹ 56.84(a)¹		7 (56.10 cM)⁵ 76858¹ NM_001002894.2¹ NP_001002894.2¹ 107166990⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	30(a)	1 → many	GL343482.1(99797-117577)

ENSEMBL Gene Tree for NLRP14 (if available)
TreeFam Gene Tree for NLRP14 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for NLRP14 gene

NLRP4² NLRP13² NLRP9² NLRC3² NLRP6² NLRP3² NLRP7² NLRP11²

NLRP10² NLRP2² NLRP5² NLRP8² NLRP12²

12 SIMAP similar genes for NLRP14 using alignment to 1 protein entry: NAL14_HUMAN:

NLRP4 NLRP8 RNH1 NLRP7 NLRP13 NLRP3

NLRP5 NLRP9 NLRP12 NLRP1 NLRP2 NLRP11

Find genes that share paralogs with NLRP14 About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_036387⁴		A breast cancer sample⁴	--	see VAR_036387	2	S C	mis⁴		0	--	--	--	--
rs199475880^1,2	C	untested¹	7060134(+)	`CGGGGA/GCTAGG`	1	--	int¹		0	--	--	--	--
rs199475884^1,2	C	untested¹	7068006(+)	`ATCAGC/GAATGA`	2	A G	mis¹		0	--	--	--	--
rs199475889^1,2	C	untested¹	7091590(+)	`GACTGA/TTAAAA`	2	I L	mis¹		0	--	--	--	--
rs199475890^1,2	C	untested¹	7091711(+)	`CTCAGC/GGGGAG`	1	--	int¹		0	--	--	--	--
rs34688710^1,2	C,F	--	6982562(+)	`CTTTCG/CTTTTT`	1	--	int¹		2		NA	4
rs1388532^1,2	C,F,O	--	7043758(+)	`TTAGGG/AGCCAA`	1	--	int¹		5		NA	262
rs118138530^1,2	C,F	--	7043790(+)	`TTTAAG/ACAGCC`	1	--	int¹		1		NA	120
rs2346005^1,2	H	--	7043840(+)	`AATTCT/GTAAGA`	1	--	int¹		4		NS EA	420
rs10769754^1,2	C,F,A,H	--	7043918(+)	`AGATCA/GGAGGA`	1	--	int¹		15		NA WA CSA EA	517

HapMap Linkage Disequilibrium report for NLRP14 (7041677 - 7092757 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for NLRP14: About this table

Variant ID	Type	Subtype	PubMed ID
esv2617222	CNV	Deletion	19546169
nsv832061	CNV	Loss	17160897

Human Gene Mutation Database (HGMD): NLRP14

Site Specific Mutation Identification with PCR Assays

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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.)
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OMIM gene information: 609665 OMIM disorders: --

Find genes that share disorders with NLRP14 About GenesLikeMe

Genetic Association Database (GAD): NLRP14
Human Genome Epidemiology (HuGE) Navigator: NLRP14 (3 documents)

Export disorders for NLRP14 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)
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PubMed articles for NLRP14 gene integrated from 10 sources:
(articles sorted by number of sources associating them with NLRP14)

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. (Nat. Rev. Mol. Cell Biol. 2003)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (Mol. Med. 2010)
The genetics of NOD-like receptors in Crohn's disease. (PubMed id 20403135)^{1, 4} Cummings J.R....Jewell D.P. (Tissue Antigens 2010)
Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)^{1, 4} Enjuanes A....Campo E. (Cancer Res. 2008)
Mutations in the testis-specific NALP14 gene in men suffering from spermatogenic failure. (PubMed id 16931801)^{1, 2} Westerveld G.H.... Lombardi M.P. (Hum. Reprod. 2006)
NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)^{1, 2} Inohara N. and Nunez G. (Nat. Rev. Immunol. 2003)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (Science 2006)
Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (Genome Res. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 338323	HGNC: 22939	AceView: NALP14	Ensembl:ENSG00000158077	euGenes: HUgn338323
ECgene: NLRP14	H-InvDB: NLRP14

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for NLRP14	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NLRP14 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for NLRP14 gene:
Search GeneIP for patents involving NLRP14

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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	OriGene qSTAR qPCR primer pairs in human, mouse for NLRP14		Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
	OriGene ORF clones in mouse, rat for NLRP14		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for NLRP14		OriGene Custom Protein Services for NLRP14

	Block miRNA regulation of human, mouse, rat NLRP14 using miScript Target Protectors		SeqTarget long-range PCR primers for resequencing NLRP14
	DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NLRP14		Predesigned siRNA for gene silencing in human, mouse, rat NLRP14
	QuantiFast Probe-based Assays in human, mouse, rat NLRP14		QuantiTect SYBR Green Assays in human, mouse, rat NLRP14
	Custom PCR Arrays for NLRP14		Search Chromatin IP Primers for NLRP14
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat NLRP14		Search GeneGlobe Interaction Network for NLRP14
	Regulatory tfbs in NLRP14 promoter

	GenScript Custom Purified and Recombinant Proteins Services for NLRP14		GenScript cDNA clones with any tag delivered in your preferred vector for NLRP14
	GenScript Custom Assay Services for NLRP14		GenScript Custom overexpressing Cell Line Services for NLRP14
	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		Custom Peptide Services

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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NLRP14

	SwitchGear 3'UTR luciferase reporter plasmids for NLRP14
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ThermoFisher Antibodies for NLRP14

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NLRP14

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genOway: Develop your customized and physiologically relevant rodent model for NLRP14

	antibodies-online antibodies for NLRP14 (11 products)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

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Hot genes Disease genes NLRP14 gene at Home site.

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NLRP14 Gene

NLR Family, Pyrin Domain Containing 14

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NLRP14 Gene

NLR Family, Pyrin Domain Containing 14

Aliasesfor NLRP14 gene

Summariesfor NLRP14 gene

Genomic Viewsfor NLRP14 gene

Proteinsfor NLRP14 gene

NLRP14 Human Recombinant Protein Products:

NLRP14 Antibody Products:

NLRP14 Assay Products:

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Pathways & Interactionsfor NLRP14 gene

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Expression for NLRP14 gene

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Genome Databases showing NLRP14 gene

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Specialized Databases showing NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

Expression
for NLRP14 gene

Orthologs
for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

Disorders / Diseases
for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene

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for NLRP14 gene