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NRL (neural retina leucine zipper)

Identity

Alias_symbol (synonym)D14S46E
RP27
NRL-MAF
Other alias
HGNC (Hugo) NRL
LocusID (NCBI) 4901
Atlas_Id 70972
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 24549316 and ends at 24553832 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACER3 (11q13.5) / NRL (14q11.2)EIF3H (8q23.3) / NRL (14q11.2)LOC100507412 (-) / NRL (14q11.2)
NRL (14q11.2) / NRL (14q11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NRL   8002
Cards
Entrez_Gene (NCBI)NRL  4901  neural retina leucine zipper
AliasesD14S46E; NRL-MAF; RP27
GeneCards (Weizmann)NRL
Ensembl hg19 (Hinxton)ENSG00000129535 [Gene_View]  chr14:24549316-24553832 [Contig_View]  NRL [Vega]
Ensembl hg38 (Hinxton)ENSG00000129535 [Gene_View]  chr14:24549316-24553832 [Contig_View]  NRL [Vega]
ICGC DataPortalENSG00000129535
TCGA cBioPortalNRL
AceView (NCBI)NRL
Genatlas (Paris)NRL
WikiGenes4901
SOURCE (Princeton)NRL
Genetics Home Reference (NIH)NRL
Genomic and cartography
GoldenPath hg19 (UCSC)NRL  -     chr14:24549316-24553832 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NRL  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblNRL - 14q11.2 [CytoView hg19]  NRL - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBINRL [Mapview hg19]  NRL [Mapview hg38]
OMIM162080   613750   
Gene and transcription
Genbank (Entrez)AB593101 AB593102 AB593103 AB593104 AB593105
RefSeq transcript (Entrez)NM_006177
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_011697 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)NRL
Cluster EST : UnigeneHs.652297 [ NCBI ]
CGAP (NCI)Hs.652297
Alternative Splicing GalleryENSG00000129535
Gene ExpressionNRL [ NCBI-GEO ]   NRL [ EBI - ARRAY_EXPRESS ]   NRL [ SEEK ]   NRL [ MEM ]
Gene Expression Viewer (FireBrowse)NRL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4901
GTEX Portal (Tissue expression)NRL
Protein : pattern, domain, 3D structure
UniProt/SwissProtP54845   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP54845  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP54845
Splice isoforms : SwissVarP54845
PhosPhoSitePlusP54845
Domaine pattern : Prosite (Expaxy)BZIP (PS50217)   
Domains : Interpro (EBI)bZIP    bZIP_Maf    Maf_TF_N    Nrl    TF_DNA-bd    Transciption_factor_Maf   
Domain families : Pfam (Sanger)bZIP_Maf (PF03131)    Maf_N (PF08383)   
Domain families : Pfam (NCBI)pfam03131    pfam08383   
Domain families : Smart (EMBL)BRLZ (SM00338)  
Conserved Domain (NCBI)NRL
DMDM Disease mutations4901
Blocks (Seattle)NRL
SuperfamilyP54845
Human Protein AtlasENSG00000129535
Peptide AtlasP54845
HPRD08875
IPIIPI00008875   IPI00789351   
Protein Interaction databases
DIP (DOE-UCLA)P54845
IntAct (EBI)P54845
FunCoupENSG00000129535
BioGRIDNRL
STRING (EMBL)NRL
ZODIACNRL
Ontologies - Pathways
QuickGOP54845
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  DNA binding  protein binding  nucleus  transcription from RNA polymerase II promoter  regulation of rhodopsin gene expression  visual perception  leucine zipper domain binding  positive regulation of rhodopsin gene expression  positive regulation of transcription from RNA polymerase II promoter  retinal rod cell development  response to stimulus  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  DNA binding  protein binding  nucleus  transcription from RNA polymerase II promoter  regulation of rhodopsin gene expression  visual perception  leucine zipper domain binding  positive regulation of rhodopsin gene expression  positive regulation of transcription from RNA polymerase II promoter  retinal rod cell development  response to stimulus  
NDEx NetworkNRL
Atlas of Cancer Signalling NetworkNRL
Wikipedia pathwaysNRL
Orthology - Evolution
OrthoDB4901
GeneTree (enSembl)ENSG00000129535
Phylogenetic Trees/Animal Genes : TreeFamNRL
HOVERGENP54845
HOGENOMP54845
Homologs : HomoloGeneNRL
Homology/Alignments : Family Browser (UCSC)NRL
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNRL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NRL
dbVarNRL
ClinVarNRL
1000_GenomesNRL 
Exome Variant ServerNRL
ExAC (Exome Aggregation Consortium)NRL (select the gene name)
Genetic variants : HAPMAP4901
Genomic Variants (DGV)NRL [DGVbeta]
DECIPHER (Syndromes)14:24549316-24553832  ENSG00000129535
CONAN: Copy Number AnalysisNRL 
Mutations
ICGC Data PortalNRL 
TCGA Data PortalNRL 
Broad Tumor PortalNRL
OASIS PortalNRL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNRL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNRL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch NRL
DgiDB (Drug Gene Interaction Database)NRL
DoCM (Curated mutations)NRL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NRL (select a term)
intoGenNRL
Cancer3DNRL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162080    613750   
Orphanet659   
MedgenNRL
Genetic Testing Registry NRL
NextProtP54845 [Medical]
TSGene4901
GENETestsNRL
Huge Navigator NRL [HugePedia]
snp3D : Map Gene to Disease4901
BioCentury BCIQNRL
ClinGenNRL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4901
Chemical/Pharm GKB GenePA31781
Clinical trialNRL
Miscellaneous
canSAR (ICR)NRL (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNRL
EVEXNRL
GoPubMedNRL
iHOPNRL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:35:23 CET 2017

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