Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NEB (nebulin)

Identity

Other namesNEB177D
NEM2
HGNC (Hugo) NEB
LocusID (NCBI) 4703
Location 2q23.3
Location_base_pair Starts at 152341853 and ends at 152591001 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

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)NEB   7720
Cards
Entrez_Gene (NCBI)NEB  4703  nebulin
GeneCards (Weizmann)NEB
Ensembl (Hinxton)ENSG00000183091 [Gene_View]  chr2:152341853-152591001 [Contig_View]  NEB [Vega]
ICGC DataPortalENSG00000183091
cBioPortalNEB
AceView (NCBI)NEB
Genatlas (Paris)NEB
WikiGenes4703
SOURCE (Princeton)NM_001164507 NM_001164508 NM_001271208 NM_004543
Genomic and cartography
GoldenPath (UCSC)NEB  -  2q23.3   chr2:152341853-152591001 -  2q23.3   [Description]    (hg19-Feb_2009)
EnsemblNEB - 2q23.3 [CytoView]
Mapping of homologs : NCBINEB [Mapview]
OMIM161650   256030   
Gene and transcription
Genbank (Entrez)AK056994 AK093855 AK096887 AK096903 AK129532
RefSeq transcript (Entrez)NM_001164507 NM_001164508 NM_001271208 NM_004543
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_009382 NT_005403 NW_001838860 NW_001841344 NW_004929305
Consensus coding sequences : CCDS (NCBI)NEB
Cluster EST : UnigeneHs.588655 [ NCBI ]
CGAP (NCI)Hs.588655
Alternative Splicing : Fast-db (Paris)GSHG0018063
Alternative Splicing GalleryENSG00000183091
Gene ExpressionNEB [ NCBI-GEO ]     NEB [ SEEK ]   NEB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20929 (Uniprot)
NextProtP20929  [Medical]
With graphics : InterProP20929
Splice isoforms : SwissVarP20929 (Swissvar)
Domaine pattern : Prosite (Expaxy)NEBULIN (PS51216)    SH3 (PS50002)   
Domains : Interpro (EBI)Nebulin [organisation]   Nebulin_repeat [organisation]   SH3_domain [organisation]  
Related proteins : CluSTrP20929
Domain families : Pfam (Sanger)Nebulin (PF00880)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00880    pfam14604   
Domain families : Smart (EMBL)NEBU (SM00227)  SH3 (SM00326)  
DMDM Disease mutations4703
Blocks (Seattle)P20929
PDB (SRS)1ARK    1NEB   
PDB (PDBSum)1ARK    1NEB   
PDB (IMB)1ARK    1NEB   
PDB (RSDB)1ARK    1NEB   
Human Protein AtlasENSG00000183091 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP20929
HPRD01196
IPIIPI00303335   IPI00953185   IPI00743654   IPI00941809   IPI00384095   IPI00873952   IPI01015244   IPI01009432   IPI00914847   IPI00917728   IPI00917120   IPI00915902   IPI00973920   
Protein Interaction databases
DIP (DOE-UCLA)P20929
IntAct (EBI)P20929
FunCoupENSG00000183091
BioGRIDNEB
InParanoidP20929
Interologous Interaction database P20929
IntegromeDBNEB
STRING (EMBL)NEB
Ontologies - Pathways
Ontology : AmiGOactin binding  protein binding  cytosol  muscle organ development  somatic muscle development  structural constituent of muscle  actin cytoskeleton  Z disc  muscle filament sliding  regulation of actin filament length  extracellular vesicular exosome  
Ontology : EGO-EBIactin binding  protein binding  cytosol  muscle organ development  somatic muscle development  structural constituent of muscle  actin cytoskeleton  Z disc  muscle filament sliding  regulation of actin filament length  extracellular vesicular exosome  
Protein Interaction DatabaseNEB
Wikipedia pathwaysNEB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NEB
snp3D : Map Gene to Disease4703
SNP (GeneSNP Utah)NEB
SNP : HGBaseNEB
Genetic variants : HAPMAPNEB
Exome VariantNEB
1000_GenomesNEB 
ICGC programENSG00000183091 
Somatic Mutations in Cancer : COSMICNEB 
CONAN: Copy Number AnalysisNEB 
Mutations and Diseases : HGMDNEB
Mutations and Diseases : intOGenNEB
Genomic VariantsNEB  NEB [DGVbeta]
dbVarNEB
ClinVarNEB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM161650    256030   
MedgenNEB
GENETestsNEB
Disease Genetic AssociationNEB
Huge Navigator NEB [HugePedia]  NEB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNEB
Homology/Alignments : Family Browser (UCSC)NEB
Phylogenetic Trees/Animal Genes : TreeFamNEB
Chemical/Protein Interactions : CTD4703
Chemical/Pharm GKB GenePA31530
Clinical trialNEB
Cancer Resource (Charite)ENSG00000183091
Other databases
Probes
Litterature
PubMed57 Pubmed reference(s) in Entrez
CoreMineNEB
iHOPNEB
OncoSearchNEB
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 16:57:28 CEST 2014

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