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NRL Gene

protein-coding   GIFtS: 56
GCID: GC14M024549

Neural Retina Leucine Zipper

  See NRL-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
Neural Retina Leucine Zipper1 2
D14S46E2 3 5
RP272 5
NRL-MAF2
Neural Retina-Specific Leucine Zipper Protein2
Neural Retinal-Specific Leucine Zipper2

External Ids:    HGNC: 80021   Entrez Gene: 49012   Ensembl: ENSG000001295357   OMIM: 1620805   UniProtKB: P548453   

Export aliases for NRL gene to outside databases

Previous GC identifers: GC14M021921 GC14M018336 GC14M022539 GC14M023619 GC14M004664


(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 NRL Gene:
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is
conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function.
Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases.
(provided by RefSeq, Jul 2008)

GeneCards Summary for NRL Gene:
NRL (neural retina leucine zipper) is a protein-coding gene. Diseases associated with NRL include retinal degeneration, autosomal recessive, clumped pigment type, and nrl-related retinitis pigmentosa. GO annotations related to this gene include leucine zipper domain binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is MAFF.

UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and
PDE6B (By similarity)

Gene Wiki entry for NRL 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_000014.8  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NRL gene promoter:
         COUP-TF1   C/EBPbeta   COUP-TF   COUP   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNRL promoter sequence
   Search Chromatin IP Primers for NRL

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


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

Entrez Gene cytogenetic band: 14q11.1-q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.1-q11.2

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024549:  view genomic region     (about GC identifiers)

Start:
24,549,316 bp from pter      End:
24,584,223 bp from pter
Size:
34,908 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NRL_HUMAN, P54845 (See protein sequence)
Recommended Name: Neural retina-specific leucine zipper protein  
Size: 237 amino acids; 25940 Da
Subunit: Interacts with FIZ1. This interaction represses transactivation (By similarity). Interacts (via the
leucine-zipper domain) with CRX
Secondary accessions: Q53XD0

Explore the universe of human proteins at neXtProt for NRL: NX_P54845

Explore proteomics data for NRL at MOPED

Post-translational modifications: 

  • Disumoylated at Lys-20. Sumoylation modulates the transcriptional activity of NRL on RHO and NR2E3 promoters, and
    is required for normal rod differentiation (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NRL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006168.1  
    ENSEMBL proteins: 
     ENSP00000380197   ENSP00000454062   ENSP00000380193   ENSP00000452966   ENSP00000380191  
     ENSP00000454180  

    NRL Human Recombinant Protein Products:

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    Novus Biologicals NRL Lysate
    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for NRL

     
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    LSBio Antibodies in human, mouse, rat for NRL

    NRL Assay Products:

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    Search eBioscience for ELISAs for NRL 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR004827 bZIP
     IPR024874 Transciption_factor_Maf
     IPR008917 TF_DNA-bd
     IPR004826 bZIP_Maf
     IPR013592 Maf_TF_N

    Graphical View of Domain Structure for InterPro Entry P54845

    ProtoNet protein and cluster: P54845

    2 Blocks protein domains:
    IPB004826 Maf transcription factor
    IPB013592 Maf transcription factor


    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
    Domain: The minimal transactivation domain (MTD) is conserved across the MAF family, it may activate trancription
    by recruiting TBP and associated factors at the promoters of target genes
    Similarity: Belongs to the bZIP family
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    Find genes that share domains with NRL           About GenesLikeMe


    (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, 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: NRL_HUMAN, P54845
    Function: Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and
    PDE6B (By similarity)

         Genatlas biochemistry entry for NRL:
    neural retinal specific transcript,interacting with CRX,regulating the expression of rhodopsin and other retinal
    genes,small MAF protein family

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS1729696
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding IPI10887186
    GO:0043522leucine zipper domain binding IPI10887186
    GO:0043565sequence-specific DNA binding IEA--
         
    Find genes that share ontologies with NRL           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Nrl):
     nervous system  vision/eye 

    Find genes that share phenotypes with NRL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for NRL: Nrltm1Asw Nrltm1.1Jcco

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NRL
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NRL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NRL

    miRNA
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    8 qRT-PCR Assays for microRNAs that regulate NRL:
    hsa-miR-320a hsa-miR-320d hsa-miR-3175 hsa-miR-3150a-3p hsa-miR-320b hsa-miR-513b hsa-miR-542-3p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidNRL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NRL
    Predesigned siRNA for gene silencing in human, mouse, rat NRL

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: NRL (NM_006177)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRL

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRL


    (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 UniProtKB/Swiss-Prot
    NRL_HUMAN, P54845: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    cytoskeleton1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    Find genes that share ontologies with NRL           About GenesLikeMe


    (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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    SuperPaths for NRL About    
    See pathways by source

    SuperPathContained pathways About
    1Tacrolimus/Cyclosporine Pathway, Pharmacodynamics
    Tacrolimus/Cyclosporine Pathway, Pharmacodynamics


    1 PharmGKB Pathway for NRL
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

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

        GeneGlobe Interaction Network for NRL

    4 Interacting proteins for NRL (P548451, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRXO431863I2D: score=2 
    FIZ1Q96SL83I2D: score=2 
    EDF1O608693I2D: score=1 
    CRXQ9XSK01EBI-8843813,EBI-8843794
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS8939891
    GO:0007468regulation of rhodopsin gene expression TAS8939891
    GO:0007601visual perception IEA--
    GO:0045872positive regulation of rhodopsin gene expression IEA--

    Find genes that share ontologies with NRL           About GenesLikeMe



    (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 NRL

    1 Novoseek inferred chemical compound relationship for NRL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 59.7 11 8288222 (2), 17356515 (1), 17335001 (1), 1427865 (1) (see all 8)



    Find genes that share compounds with NRL           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NRL gene: 
    NM_006177.3  

    Unigene Cluster for NRL:

    Neural retina leucine zipper
    Hs.652297  [show with all ESTs]
    Unigene Representative Sequence: BX161381
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397002(uc021rrk.1 uc001wlo.3 uc001wlp.3) ENST00000561028(uc001wlq.3)
    ENST00000396997 ENST00000560550 ENST00000396995 ENST00000558280
    miRNA
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    Block miRNA regulation of human, mouse, rat NRL using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate NRL:
    hsa-miR-320a hsa-miR-320d hsa-miR-3175 hsa-miR-3150a-3p hsa-miR-320b hsa-miR-513b hsa-miR-542-3p hsa-miR-186
    SwitchGear 3'UTR luciferase reporter plasmidNRL 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NRL
    Predesigned siRNA for gene silencing in human, mouse, rat NRL
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NRL (NM_006177)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NRL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NRL
    Primer
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    OriGene qPCR primer pairs and template standards for NRL
    OriGene qSTAR qPCR primer pairs in human, mouse for NRL
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NRL
      QuantiTect SYBR Green Assays in human, mouse, rat NRL
      QuantiFast Probe-based Assays in human, mouse, rat NRL

    Additional mRNA sequence: 

    AB593101.1 AB593102.1 AB593103.1 AB593104.1 AB593105.1 AB593106.1 BC012395.1 BT006942.1 
    BX161381.1 BX161522.1 M81840.1 M95925.1 

    10 DOTS entries:

    DT.312352  DT.95156915  DT.100775953  DT.100026297  DT.100775952  DT.40245910  DT.92419500  DT.97839864 
    DT.100026299  DT.95180179 

    Selected AceView cDNA sequences (see all 65):

    BI518894 BQ637234 BQ635992 BU739205 BQ636909 BM716767 BX094113 BQ639617 
    BX161381 CR593888 BX161522 BQ637859 M81840 BQ638443 BU726817 BC012395 
    BQ636698 BM767223 BG472163 BQ636772 BX401987 BQ639442 BG329752 BQ640003 

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


    NRL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Mature Rod Cells Outer Nuclear Layer
             Optic cup structures
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     NULL (Sensory Organs)
             Retinal progenitor-like cells
    NRL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NRL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.652297

    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
    Tissue specificity: Neural retina

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NRL

    (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 animals.

    Orthologs for NRL gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nrl1 , 5 neural retina leucine zipper gene1, 5 86.08(n)1
    89.45(a)1
      14 (28.19 cM)5
    181851  NM_008736.31  NP_032762.11 
     555189785 
    lizard
    (Anolis carolinensis)
    Reptilia NRL6
    neural retina leucine zipper
    50(a)
    1 ↔ 1
    GL344685.1(12103-15590)
    African clawed frog
    (Xenopus laevis)
    Amphibia l-maf-A2 bZIP transcription factor L-Maf 76.04(n)    AF202059.2 
    zebrafish
    (Danio rerio)
    Actinopterygii nrl1 neural retina leucine zipper 66.17(n)
    62.5(a)
      554169  NM_001040331.1  NP_001035421.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tj6
    traffic jam
    17(a)
    1 → many
    2L(19464267-19467758)
    worm
    (Caenorhabditis elegans)
    Secernentea maf-16
    Protein MAF-1 (maf-1) mRNA, complete cds
    27(a)
    1 → many
    I(10382746-10384222) WBGene00077521


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NRL gene
    MAFF2  MAFG2  MAFA2  MAFK2  MAF2  MAFB2  
    6 SIMAP similar genes for NRL using alignment to 3 protein entries:     NRL_HUMAN (see all proteins):
    MAFG    MAFF    MAFK    MAF    MAFA    MAFB

    Find genes that share paralogs with NRL           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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    Selected SNPs for NRL (see all 125)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0649774
    Retinal degeneration autosomal recessive clumped pigment type (RDCP)4--see VAR_0649772 L P mis40--------
    VAR_0092684
    Retinitis pigmentosa 27 (RP27)4--see VAR_0092682 S T mis40--------
    VAR_0683644
    Retinitis pigmentosa 27 (RP27)4--see VAR_0683642 R S mis40--------
    rs1048944631,2
    Cpathogenic15547975(-) GCGGCC/TGAAGC 2 P L mis10--------
    rs1048944591,2
    Cpathogenic15549205(-) CTCCTA/TCACCC 2 T S mis10--------
    rs128887631,2
    C--5546320(+) CTCCCC/GTTAGC 1 -- ds50018Minor allele frequency- G:0.43NA WA EA 368
    rs620008241,2
    C,F--5546325(+) CTTAGC/GCTGCT 1 -- ds50016Minor allele frequency- G:0.14NA WA CSA EA 364
    rs1838518491,2
    --5546499(+) ATAACA/GGATGT 1 -- ds50010--------
    rs1465116391,2
    C--5546542(+) TCTTG-/CTCTCTC 1 -- ds50010--------
    rs1503213331,2
    --5546582(+) ACACAC/GACACA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for NRL (24549316 - 24584223 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NRL:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516023CNV Loss19592680

    Human Gene Mutation Database (HGMD): NRL
    Locus Specific Mutation Databases (LSDB): NRL

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NRL
    DNA2.0 Custom Variant and Variant Library Synthesis for NRL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 162080   
    OMIM disorders: 613750  
    UniProtKB/Swiss-Prot: NRL_HUMAN, P54845
  • Retinitis pigmentosa 27 (RP27) [MIM:613750]: A retinal dystrophy belonging to the group of pigmentary
    retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination
    and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically
    have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose
    their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Retinal degeneration autosomal recessive clumped pigment type (RDCP) [MIM:162080]: A retinopathy
    characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color
    vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the
    macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the
    level of the retinal pigment epithelium are present. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 7 diseases for NRL:    
    About MalaCards
    retinal degeneration, autosomal recessive, clumped pigment type    nrl-related retinitis pigmentosa    retinitis pigmentosa 27    goldmann-favre syndrome
    leber congenital amaurosis    retinal disease    retinitis pigmentosa

    3 diseases from the University of Copenhagen DISEASES database for NRL:
    Retinitis pigmentosa     Leber congenital amaurosis     Blindness

    Find genes that share disorders with NRL           About GenesLikeMe

    6 Novoseek inferred disease relationships for NRL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    enhanced s-cone syndrome 93.3 1 12552256 (1)
    retinitis pigmentosa 79.9 12 17335001 (3), 19933183 (2), 12796249 (2), 9344665 (1) (see all 5)
    lebers congenital amaurosis 78.2 2 12552256 (1), 20513135 (1)
    retinal degeneration 75.1 3 17356515 (1), 9344665 (1), 12552256 (1)
    retinopathy 62.1 4 17335001 (1), 1427865 (1), 9344665 (1), 12552256 (1)
    retinoblastoma 38.8 1 8552602 (1)

    Genetic Association Database (GAD): NRL
    Human Genome Epidemiology (HuGE) Navigator: NRL (7 documents)

    Export disorders for NRL 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 NRL gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with NRL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. (PubMed id 10192380)1, 2, 3 Bessant D.A.R.... Bhattacharya S.S. (Nat. Genet. 1999)
    2. Neural retina-specific leucine zipper gene NRL (D14S46E) maps to human chromosome 14q11.1-q11.2. (PubMed id 1427865)1, 3, 9 Yang-Feng T.L. and Swaroop A. (Genomics 1992)
    3. Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration. (PubMed id 9344665)1, 2, 9 Farjo Q.... Swaroop A. (Genomics 1997)
    4. Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population. (PubMed id 19933183)1, 4, 9 Yang Y....Pang C.P. (amp 2010)
    5. A conserved retina-specific gene encodes a basic motif/leucine zipper domain. (PubMed id 1729696)1, 2, 9 Swaroop A.... Agarwal N. (Proc. Natl. Acad. Sci. U.S.A. 1992)
    6. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133)1, 2 Oshikawa M.... Kato S. (Invest. Ophthalmol. Vis. Sci. 2011)
    7. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    8. Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. (PubMed id 15591106)1, 2 Nishiguchi K.M.... Dryja T.P. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. 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)
    10. The minimal transactivation domain of the basic motif-leucine zipper transcription factor NRL interacts with TATA-binding protein. (PubMed id 15328344)1, 2 Friedman J.S.... Swaroop A. (J. Biol. Chem. 2004)

    (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: 4901 HGNC: 8002 AceView: NRL Ensembl:ENSG00000129535 euGenes: HUgn4901
    ECgene: NRL H-InvDB: NRL

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for NRL Pharmacogenomics, SNPs, Pathways
    Mutations of the NRL genehttp://www.retina-international.org/files/sci-news/nrlmut.htm

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

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



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