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NDP (Norrie disease (pseudoglioma))

Identity

Alias_namesEVR2
exudative vitreoretinopathy 2 (X-linked)
Norrie disease (pseudoglioma)
Alias_symbol (synonym)norrin
HGNC (Hugo) NDP
LocusID (NCBI) 4693
Atlas_Id 52704
Location Xp11.3  [Link to chromosome band Xp11]
Location_base_pair Starts at 43808024 and ends at 43832921 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NDP (Xp11.3) / SLC25A46 (5q22.1)

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)NDP   7678
Cards
Entrez_Gene (NCBI)NDP  4693  Norrie disease (pseudoglioma)
AliasesEVR2; FEVR; ND
GeneCards (Weizmann)NDP
Ensembl hg19 (Hinxton)ENSG00000124479 [Gene_View]  chrX:43808024-43832921 [Contig_View]  NDP [Vega]
Ensembl hg38 (Hinxton)ENSG00000124479 [Gene_View]  chrX:43808024-43832921 [Contig_View]  NDP [Vega]
ICGC DataPortalENSG00000124479
TCGA cBioPortalNDP
AceView (NCBI)NDP
Genatlas (Paris)NDP
WikiGenes4693
SOURCE (Princeton)NDP
Genetics Home Reference (NIH)NDP
Genomic and cartography
GoldenPath hg19 (UCSC)NDP  -     chrX:43808024-43832921 -  Xp11.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDP  -     Xp11.3   [Description]    (hg38-Dec_2013)
EnsemblNDP - Xp11.3 [CytoView hg19]  NDP - Xp11.3 [CytoView hg38]
Mapping of homologs : NCBINDP [Mapview hg19]  NDP [Mapview hg38]
OMIM300658   305390   310600   
Gene and transcription
Genbank (Entrez)AK313409 AM392592 BC029901 BE139596 DA714180
RefSeq transcript (Entrez)NM_000266
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009832 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)NDP
Cluster EST : UnigeneHs.522615 [ NCBI ]
CGAP (NCI)Hs.522615
Alternative Splicing GalleryENSG00000124479
Gene ExpressionNDP [ NCBI-GEO ]   NDP [ EBI - ARRAY_EXPRESS ]   NDP [ SEEK ]   NDP [ MEM ]
Gene Expression Viewer (FireBrowse)NDP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4693
GTEX Portal (Tissue expression)NDP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00604   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ00604  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ00604
Splice isoforms : SwissVarQ00604
PhosPhoSitePlusQ00604
Domaine pattern : Prosite (Expaxy)CTCK_1 (PS01185)    CTCK_2 (PS01225)   
Domains : Interpro (EBI)Cys_knot_C    Glyco_hormone_CN    Norrie_dis   
Domain families : Pfam (Sanger)Cys_knot (PF00007)   
Domain families : Pfam (NCBI)pfam00007   
Domain families : Smart (EMBL)CT (SM00041)  
Conserved Domain (NCBI)NDP
DMDM Disease mutations4693
Blocks (Seattle)NDP
PDB (SRS)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
PDB (PDBSum)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
PDB (IMB)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
PDB (RSDB)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
Structural Biology KnowledgeBase4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
SCOP (Structural Classification of Proteins)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
CATH (Classification of proteins structures)4MY2    5BPU    5BQ8    5BQB    5BQC    5BQE    5CL1   
SuperfamilyQ00604
Human Protein AtlasENSG00000124479
Peptide AtlasQ00604
HPRD02404
IPIIPI00024054   
Protein Interaction databases
DIP (DOE-UCLA)Q00604
IntAct (EBI)Q00604
FunCoupENSG00000124479
BioGRIDNDP
STRING (EMBL)NDP
ZODIACNDP
Ontologies - Pathways
QuickGOQ00604
Ontology : AmiGOplacenta development  frizzled binding  cytokine activity  protein binding  extracellular space  vacuole organization  signal transduction  cell-cell signaling  nervous system development  visual perception  sensory perception of sound  growth factor activity  cell proliferation  cell surface  Wnt signaling pathway  extracellular matrix  extracellular matrix-cell signaling  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of sequence-specific DNA binding transcription factor activity  canonical Wnt signaling pathway  retina vasculature morphogenesis in camera-type eye  
Ontology : EGO-EBIplacenta development  frizzled binding  cytokine activity  protein binding  extracellular space  vacuole organization  signal transduction  cell-cell signaling  nervous system development  visual perception  sensory perception of sound  growth factor activity  cell proliferation  cell surface  Wnt signaling pathway  extracellular matrix  extracellular matrix-cell signaling  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of sequence-specific DNA binding transcription factor activity  canonical Wnt signaling pathway  retina vasculature morphogenesis in camera-type eye  
NDEx NetworkNDP
Atlas of Cancer Signalling NetworkNDP
Wikipedia pathwaysNDP
Orthology - Evolution
OrthoDB4693
GeneTree (enSembl)ENSG00000124479
Phylogenetic Trees/Animal Genes : TreeFamNDP
HOVERGENQ00604
HOGENOMQ00604
Homologs : HomoloGeneNDP
Homology/Alignments : Family Browser (UCSC)NDP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDP
dbVarNDP
ClinVarNDP
1000_GenomesNDP 
Exome Variant ServerNDP
ExAC (Exome Aggregation Consortium)NDP (select the gene name)
Genetic variants : HAPMAP4693
Genomic Variants (DGV)NDP [DGVbeta]
DECIPHER (Syndromes)X:43808024-43832921  ENSG00000124479
CONAN: Copy Number AnalysisNDP 
Mutations
ICGC Data PortalNDP 
TCGA Data PortalNDP 
Broad Tumor PortalNDP
OASIS PortalNDP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch NDP
DgiDB (Drug Gene Interaction Database)NDP
DoCM (Curated mutations)NDP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDP (select a term)
intoGenNDP
Cancer3DNDP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300658    305390    310600   
Orphanet190    1645    7036    11941    12154   
MedgenNDP
Genetic Testing Registry NDP
NextProtQ00604 [Medical]
TSGene4693
GENETestsNDP
Huge Navigator NDP [HugePedia]
snp3D : Map Gene to Disease4693
BioCentury BCIQNDP
ClinGenNDP (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4693
Chemical/Pharm GKB GenePA31481
Clinical trialNDP
Miscellaneous
canSAR (ICR)NDP (select the gene name)
Probes
Litterature
PubMed77 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDP
EVEXNDP
GoPubMedNDP
iHOPNDP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:45:36 CET 2016

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