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NNAT Gene

protein-coding   GIFtS: 43
GCID: GC20P036149

Neuronatin

  See related diseases
at  

(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
neuronatin1 2
Peg52

External Ids:    HGNC: 78601   Entrez Gene: 48262   Ensembl: ENSG000000534387   OMIM: 6031065   UniProtKB: Q165173   

Export aliases for NNAT gene to outside databases

Previous GC identifers: GC20P035878 GC20P035838 GC20P036788 GC20P036835 GC20P035583 GC20P032885


(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 NNAT Gene:
The protein encoded by this gene is a proteolipid that may be involved in the regulation of ion channels during
brain development. The encoded protein may also play a role in forming and maintaining the structure of the
nervous system. This gene is found within an intron of the BLCAP gene, but on the opposite strand. This gene is
imprinted and is expressed only from the paternal allele. Two transcript variants encoding two different isoforms
have been found for this gene. (provided by RefSeq, Nov 2009)

GeneCards Summary for NNAT Gene:
NNAT (neuronatin) is a protein-coding gene. Diseases associated with NNAT include myxoid liposarcoma, and lafora disease.

UniProtKB/Swiss-Prot: NNAT_HUMAN, Q16517
Function: May participate in the maintenance of segment identity in the hindbrain and pituitary development, and
maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of
ion channels




(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:
NC_000020.11  NC_018931.2  NT_011362.11  
Regulatory elements:
   Regulatory transcription factor binding sites in the NNAT gene promoter:
         CREB   E2F-1   E2F   deltaCREB   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNNAT promoter sequence
   Search Chromatin IP Primers for NNAT

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NNAT


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

Entrez Gene cytogenetic band: 20q11.2-q12   Ensembl cytogenetic band:  20q11.23   HGNC cytogenetic band: 20q11.2-q12

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

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P036149:  view genomic region     (about GC identifiers)

Start:
36,149,607 bp from pter      End:
36,152,092 bp from pter
Size:
2,486 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NNAT_HUMAN, Q16517 (See protein sequence)
Recommended Name: Neuronatin  
Size: 81 amino acids; 9237 Da
Developmental stage: Abundant in 18-24 week old fetal brain. Postnatally its expression decline and only minimal
levels were present in adulthood
Secondary accessions: B2R558 E1P5V6 Q16596 Q5U0N3
Alternative splicing: 2 isoforms:  Q16517-1   Q16517-2   

Explore the universe of human proteins at neXtProt for NNAT: NX_Q16517

Explore proteomics data for NNAT at MOPED


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

REFSEQ proteins (2 alternative transcripts): 
NP_005377.1  NP_859017.1  

ENSEMBL proteins: 
 ENSP00000062104   ENSP00000335497  

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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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1 InterPro protein domain:
 IPR024885 Neuronatin

Graphical View of Domain Structure for InterPro Entry Q16517

ProtoNet protein and cluster: Q16517

UniProtKB/Swiss-Prot: NNAT_HUMAN, Q16517
Similarity: Belongs to the neuronatin family


NNAT 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NNAT_HUMAN, Q16517
Function: May participate in the maintenance of segment identity in the hindbrain and pituitary development, and
maturation or maintenance of the overall structure of the nervous system. May function as a regulatory subunit of
ion channels

Phenotypes:
     1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nnat):

 normal 

NNAT for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Nnattm1Lex for NNAT

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NNAT
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Selected qRT-PCR Assays for microRNAs that regulate NNAT (see all 46):
hsa-miR-520e hsa-miR-302d hsa-miR-1914* hsa-miR-372 hsa-miR-383 hsa-miR-149 hsa-miR-28-5p hsa-miR-642b
SwitchGear 3'UTR luciferase reporter plasmidNNAT 3' UTR sequence
Inhib. RNA
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NNAT

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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: 

CompartmentConfidence
extracellular3
endoplasmic reticulum1
mitochondrion1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

NNAT for ontologies           About GeneDecksing


(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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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NNAT
Interactions:

    Search GeneGlobe Interaction Network for NNAT

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for NNAT (ENSP000000621044) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
NHLRC1ENSP000003454644STRING: ENSP00000345464
UBCENSP000003448184STRING: ENSP00000344818
About this table

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport TAS8813377
GO:0007420brain development IEA--
GO:0009249protein lipoylation TAS8813377
GO:0009749response to glucose IEA--
GO:0030182neuron differentiation IEA--

NNAT for ontologies           About GeneDecksing



(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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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for NNAT



(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for NNAT gene (2 alternative transcripts): 
NM_005386.2  NM_181689.1  

Unigene Cluster for NNAT:

Neuronatin
Hs.504703  [show with all ESTs]
Unigene Representative Sequence: BM466491
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000062104(uc002xhd.3 uc002xhe.3) ENST00000346199
miRNA
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Selected qRT-PCR Assays for microRNAs that regulate NNAT (see all 46):
hsa-miR-520e hsa-miR-302d hsa-miR-1914* hsa-miR-372 hsa-miR-383 hsa-miR-149 hsa-miR-28-5p hsa-miR-642b
SwitchGear 3'UTR luciferase reporter plasmidNNAT 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat NNAT
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DNA2.0 Custom Codon Optimized Gene Synthesis Service for NNAT
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NNAT
Primer
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OriGene qPCR primer pairs and template standards for NNAT
OriGene qSTAR qPCR primer pairs in human, mouse for NNAT
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NNAT
  QuantiTect SYBR Green Assays in human, mouse, rat NNAT
  QuantiFast Probe-based Assays in human, mouse, rat NNAT

Additional mRNA sequence: 

AB002392.1 AK312069.1 BC001768.1 BT019426.1 U25033.1 U25034.1 

13 DOTS entries:

DT.100816553  DT.100816566  DT.87004599  DT.95292760  DT.100816567  DT.120814387  DT.95292758  DT.97773674 
DT.95292754  DT.92352360  DT.120814278  DT.120814384  DT.100704952 

Selected AceView cDNA sequences (see all 253):

CR611594 AA297497 BX419564 AW160435 CD105284 BC001768 AI816122 AI929654 
AL550919 AI879247 CR599948 AW160593 CR593008 AW089072 CD107578 CR622140 
AI879021 AI879181 AA338548 AI929614 AW089537 T35383 NM_181689 AW161393 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for NNAT    About this scheme

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d
SP1:                    -                     
SP2:              -     -                     
SP3:              -                           


ECgene alternative splicing isoforms for NNAT

(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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NNAT expression in normal human tissues (normalized intensities)      NNAT embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CAGTTGTGGT
NNAT Expression
About this image


NNAT expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 15) fully expand
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
         Line H9 (Naive)
 
 Pancreas (Endocrine System)    fully expand to see all 4 entries
         Endocrine Progenitor Cells Ventral Pancreatic Bud
 
 Limb (Muscoskeletal System)    fully expand to see all 3 entries
         Mesenchymal Condensate Cells Zeugopod
         Limb Bud
 
 Eye (Sensory Organs)    fully expand to see all 2 entries
         Cholinergic Amacrine Cells Inner Nuclear Layer
         Retina
 
 Gut Tube (Gastrointestinal Tract)    fully expand to see all 2 entries
         Foregut
NNAT Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

NNAT Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.504703
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NNAT

(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 human and mouse.

Orthologs for NNAT gene from Selected species (see all 5)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Nnat1 , 5 neuronatin1, 5 96.71(n)1
98.77(a)1
  2 (78.40 cM)5
181111  NM_010923.21  NP_035053.11 
 1575600785 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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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Selected SNPs for NNAT (see all 119)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs60908261,2
H--36113704(+) CCGACC/TTAATG 2 -- us2k14Minor allele frequency- T:0.00NS EA 418
rs61252841,2
C,F,A,H--36113745(+) GCTTTC/TTTCAA 2 -- us2k17Minor allele frequency- T:0.00NS EA NA 424
rs60950571,2
C--36113896(+) AAAAAG/AAAAAA 2 -- us2k1 trp31Minor allele frequency- A:0.00NA 2
rs608678351,2
C--36113896(+) AAAAA-/GAAAAA 2 -- us2k10--------
rs1463993911,2
C--36114010(+) TTCTA-/CTCCTCTC 2 -- us2k10--------
rs1891060091,2
--36114156(+) ATCGCC/TTCCTG 2 -- us2k10--------
rs748318231,2
C--36114194(+) AGACCC/TCACAA 2 -- us2k10--------
rs765893721,2
F--36114280(+) TCTAGC/TATCTC 2 -- us2k11Minor allele frequency- T:0.06WA 118
rs1491484081,2
--36114445(+) CCCAGC/TGTCAC 2 -- us2k10--------
rs119068081,2
C,F,H--36114470(+) CCAACT/CTCTCC 2 -- us2k18Minor allele frequency- C:0.03NS EA NA WA 428

HapMap Linkage Disequilibrium report for NNAT (36149607 - 36152092 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for NNAT: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing NNAT
DNA2.0 Custom Variant and Variant Library Synthesis for NNAT

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603106    OMIM disorders: --

Selected diseases for NNAT (see all 23):    About MalaCards
myxoid liposarcoma    lafora disease    phenylketonuria    neuroendocrine carcinoma
liposarcoma    small cell carcinoma    pituitary tumors    pituitary adenoma
glioblastoma multiforme    medulloblastoma    acute leukemia    neuroblastoma
adenoma    obesity    lung cancer    thyroiditis
cervicitis    cerebritis    pancreatitis    leukemia


NNAT for disorders           About GeneDecksing

1 Novoseek inferred disease relationship for NNAT gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
tumors 0.457 9 17805055 (3), 17043644 (1), 17762496 (1), 18591389 (1)


Export disorders for NNAT 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 NNAT gene, integrated from 10 sources (see all 40):
(articles sorted by number of sources associating them with NNAT)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Structure and organization of the human neuronatin gene. (PubMed id 8660979)1, 2, 3, 9 Dou D. and Joseph R. (Genomics 1996)
  2. cDNA cloning and mRNA expression analysis of the human neuronatin. High level expression in human pituitary gland and pituitary adenomas. (PubMed id 9356927)1, 2, 9 Usui H....Kumanishi T. (J. Mol. Neurosci. 1997)
  3. Cloning of human neuronatin gene and its localization to chromosome- 20q 11.2-12: the deduced protein is a novel 'proteolipid'. (PubMed id 8813377)1, 2, 9 Dou D. and Joseph R. (Brain Res. 1996)
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
  6. Loss of neuronatin expression is associated with promoter hypermethylation in pituitary adenoma. (PubMed id 19218280)1, 9 Revill K....Farrell W.E. (Endocr. Relat. Cancer 2009)
  7. Hypermethylation of the imprinted NNAT locus occurs frequently in pediatric acute leukemia. (PubMed id 11960906)1, 9 Kuerbitz S.J....Gray T.A. (Carcinogenesis 2002)
  8. Neuronatin expression and its clinicopathological significance in pulmonary non-small cell carcinoma. (PubMed id 17805055)1, 9 Uchihara T....Noguchi M. (J Thorac Oncol 2007)
  9. Imprinted expression of neuronatin from modified BAC transgenes reveals regulation by distinct and distant enhancers. (PubMed id 11476579)1, 9 John R.M....Surani M.A. (Dev. Biol. 2001)
  10. Coexpression of neuronatin splice forms promotes medulloblastoma growth. (PubMed id 18701710)1, 9 Siu I.M....Riggins G.J. (Neuro-oncology 2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 4826 HGNC: 7860 AceView: NNAT Ensembl:ENSG00000053438 euGenes: HUgn4826
ECgene: NNAT H-InvDB: NNAT

(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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NameDescription
PharmGKB entry for NNAT Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for NNAT gene:
Search GeneIP for patents involving NNAT

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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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

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