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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NLRP14 Gene

protein-coding GIFtS: 52
GCID: GC11P007017

NLR Family, Pyrin Domain Containing 14

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

3 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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

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

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. Diseases associated with NLRP14 include crohn's disease, and chronic lymphocytic leukemia. GO annotations related to this gene include ATP binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.2 NT_009237.18

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for NLRP14

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q86W24

NLRP14 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

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)
About This Section

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:

IPR011029 DEATH-like_dom

IPR007111 NACHT_NTPase

IPR027417 P-loop_NTPase

IPR004020 DAPIN

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

NLRP14 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NAL14_HUMAN, Q86W24

Function: May be involved in inflammation and spermatogenesis

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	--

NLRP14 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for NLRP14:

Decreased viability after Chla

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for NLRP14

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NLRP14

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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NLRP14

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): 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	--

NLRP14 for ontologies About GeneDecksing

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

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NLRP14 (NAL14)

Search CenterWatch for drugs/clinical trials and news about NLRP14 / NAL14

(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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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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:

NM_176822 BK001107 AY154469 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™, 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

NLRP14 expression in normal human tissues (normalized intensities) NLRP14 embryonic expression: see
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

5/2 selected tissues (see all 2) fully expand


Ovary (Reproductive System) fully expand to see all 2 entries
Secondary follicles
oocyte

Testis (Reproductive System)

See NLRP14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NLRP14

SOURCE GeneReport for Unigene cluster: Hs.449637

UniProtKB/Swiss-Prot: NAL14_HUMAN, Q86W24

Tissue specificity: Testis-specific

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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 human and mouse.

Orthologs for NLRP14 gene from 1/6 species (see all 6) 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}	70.66(n)¹ 56.91(a)¹		7 (56.10 cM)⁵ 76858¹ NM_001002894.2¹ NP_001002894.2¹ 107166990⁵

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)
About This Section

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 NLRP5

NLRP9 NLRP12 NLRP3 NLRP1 NLRP2 NLRP11

NLRP14 for paralogs About GeneDecksing

(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) 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 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	--	--	--	--
VAR_031933⁴		--	--	see VAR_031933	2	R E	mis⁴		0	--	--	--	--
VAR_031940⁴		--	--	see VAR_031940	2	D Q	mis⁴		0	--	--	--	--
VAR_031937⁴		--	--	see VAR_031937	2	A T	mis⁴		0	--	--	--	--
VAR_031934⁴		--	--	see VAR_031934	2	D V	mis⁴		0	--	--	--	--
rs34688710^1,2	C,F	--	6982562(+)	`CTTTCG/CTTTTT`	1	--	int¹		2		NA	4

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

SABiosciences Cancer Mutation PCR Assays

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

OMIM gene information: 609665 OMIM disorders: --

3 diseases for NLRP14: About MalaCards

crohn's disease chronic lymphocytic leukemia leukemia

NLRP14 for disorders About GeneDecksing

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)
About This Section

PubMed articles for NLRP14 gene integrated from 9 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. (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. (2010)
The genetics of NOD-like receptors in Crohn's disease . (PubMed id 20403135)^{1, 4} Cummings J.R....Jewell D.P. (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. (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. (2006)
NODs: intracellular proteins involved in inflammation and apoptosis. (PubMed id 12766759)^{1, 2} Inohara N. and Nunez G. (2003)
The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)² Sjoeblom T.... Velculescu V.E. (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. (2006)

(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: 338323	HGNC: 22939	AceView: NALP14	Ensembl:ENSG00000158077	euGenes: HUgn338323
ECgene: NLRP14	H-InvDB: NLRP14

(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 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.)

About This Section

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NLRP14
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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

	inGenious Targeting Laboratory - Custom generated mouse model solutions for NLRP14
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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 NLRP14 gene at Home site.

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NLRP14 Gene

NLR Family, Pyrin Domain Containing 14

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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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Export list of displayed genes

NLRP14 Gene

NLR Family, Pyrin Domain Containing 14

Aliasesfor NLRP14 gene

Summariesfor NLRP14 gene

Genomic Viewsfor NLRP14 gene

Proteinsfor NLRP14 gene

Protein Domains /Familiesfor NLRP14 gene

Functionfor NLRP14 gene

Pathways & Interactionsfor NLRP14 gene

Drugs & Compoundsfor NLRP14 gene

Transcriptsfor NLRP14 gene

Expression for NLRP14 gene

Orthologsfor NLRP14 gene

Paralogsfor NLRP14 gene

Genomic Variantsfor NLRP14 gene

Disorders / Diseasesfor NLRP14 gene

Publicationsfor NLRP14 gene

External Searches for NLRP14 gene

Genome Databases showing NLRP14 gene

Other Databases showing NLRP14 gene

Specialized Databases showing NLRP14 gene

Intellectual Propertyfor NLRP14 gene

Productsfor NLRP14 gene

View Random Gene

Aliases
for NLRP14 gene

Summaries
for NLRP14 gene

Genomic Views
for NLRP14 gene

Proteins
for NLRP14 gene

Protein Domains /
Families
for NLRP14 gene

Function
for NLRP14 gene

Pathways & Interactions
for NLRP14 gene

Drugs & Compounds
for NLRP14 gene

Transcripts
for NLRP14 gene

Expression
for NLRP14 gene

Orthologs
for NLRP14 gene

Paralogs
for NLRP14 gene

Genomic Variants
for NLRP14 gene

Disorders / Diseases
for NLRP14 gene

Publications
for NLRP14 gene

Intellectual Property
for NLRP14 gene

Products
for NLRP14 gene