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NDP (Norrie disease (pseudoglioma))

Identity

Other namesEVR2
FEVR
ND
HGNC (Hugo) NDP
LocusID (NCBI) 4693
Location Xp11.3
Location_base_pair Starts at 43808024 and ends at 43832921 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)NDP   7678
Cards
Entrez_Gene (NCBI)NDP  4693  Norrie disease (pseudoglioma)
GeneCards (Weizmann)NDP
Ensembl (Hinxton)ENSG00000124479 [Gene_View]  chrX:43808024-43832921 [Contig_View]  NDP [Vega]
ICGC DataPortalENSG00000124479
cBioPortalNDP
AceView (NCBI)NDP
Genatlas (Paris)NDP
WikiGenes4693
SOURCE (Princeton)NM_000266
Genomic and cartography
GoldenPath (UCSC)NDP  -  Xp11.3   chrX:43808024-43832921 -  Xp11.3   [Description]    (hg19-Feb_2009)
EnsemblNDP - Xp11.3 [CytoView]
Mapping of homologs : NCBINDP [Mapview]
OMIM300658   305390   310600   
Gene and transcription
Genbank (Entrez)AK313409 AM392592 BC029901 BE139596 DA714180
RefSeq transcript (Entrez)NM_000266
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_009832 NT_079573 NW_001842361 NW_004929439
Consensus coding sequences : CCDS (NCBI)NDP
Cluster EST : UnigeneHs.522615 [ NCBI ]
CGAP (NCI)Hs.522615
Alternative Splicing : Fast-db (Paris)GSHG0032056
Alternative Splicing GalleryENSG00000124479
Gene ExpressionNDP [ NCBI-GEO ]     NDP [ SEEK ]   NDP [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ00604 (Uniprot)
NextProtQ00604  [Medical]
With graphics : InterProQ00604
Splice isoforms : SwissVarQ00604 (Swissvar)
Domaine pattern : Prosite (Expaxy)CTCK_1 (PS01185)    CTCK_2 (PS01225)   
Domains : Interpro (EBI)Cys_knot_C [organisation]   Glyco_hormone_CN [organisation]   Norrie_dis [organisation]  
Related proteins : CluSTrQ00604
Domain families : Pfam (Sanger)Cys_knot (PF00007)   
Domain families : Pfam (NCBI)pfam00007   
Domain families : Smart (EMBL)CT (SM00041)  
DMDM Disease mutations4693
Blocks (Seattle)Q00604
PDB (SRS)4MY2   
PDB (PDBSum)4MY2   
PDB (IMB)4MY2   
PDB (RSDB)4MY2   
Human Protein AtlasENSG00000124479 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ00604
HPRD02404
IPIIPI00024054   
Protein Interaction databases
DIP (DOE-UCLA)Q00604
IntAct (EBI)Q00604
FunCoupENSG00000124479
BioGRIDNDP
InParanoidQ00604
Interologous Interaction database Q00604
IntegromeDBNDP
STRING (EMBL)NDP
Ontologies - Pathways
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  
Protein Interaction DatabaseNDP
Wikipedia pathwaysNDP
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NDP
snp3D : Map Gene to Disease4693
SNP (GeneSNP Utah)NDP
SNP : HGBaseNDP
Genetic variants : HAPMAPNDP
Exome VariantNDP
1000_GenomesNDP 
ICGC programENSG00000124479 
Somatic Mutations in Cancer : COSMICNDP 
CONAN: Copy Number AnalysisNDP 
Mutations and Diseases : HGMDNDP
Mutations and Diseases : intOGenNDP
Genomic VariantsNDP  NDP [DGVbeta]
dbVarNDP
ClinVarNDP
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM300658    305390    310600   
MedgenNDP
GENETestsNDP
Disease Genetic AssociationNDP
Huge Navigator NDP [HugePedia]  NDP [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNDP
Homology/Alignments : Family Browser (UCSC)NDP
Phylogenetic Trees/Animal Genes : TreeFamNDP
Chemical/Protein Interactions : CTD4693
Chemical/Pharm GKB GenePA31481
Clinical trialNDP
Cancer Resource (Charite)ENSG00000124479
Other databases
Probes
Litterature
PubMed72 Pubmed reference(s) in Entrez
CoreMineNDP
iHOPNDP
OncoSearchNDP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:57:21 CEST 2014

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