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NEB (nebulin)

Identity

Alias_namesNEM2
Alias_symbol (synonym)NEB177D
HGNC (Hugo) NEB
LocusID (NCBI) 4703
Atlas_Id 41517
Location 2q23.3  [Link to chromosome band 2q23]
Location_base_pair Starts at 152341853 and ends at 152591001 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NEB (2q23.3) / RIPK4 (21q22.3)OLFML3 (1p13.2) / NEB (2q23.3)RIPK4 (21q22.3) / NEB (2q23.3)

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
LRG (Locus Reference Genomic)LRG_202
Cards
Entrez_Gene (NCBI)NEB  4703  nebulin
AliasesNEB177D; NEM2
GeneCards (Weizmann)NEB
Ensembl hg19 (Hinxton)ENSG00000183091 [Gene_View]  chr2:152341853-152591001 [Contig_View]  NEB [Vega]
Ensembl hg38 (Hinxton)ENSG00000183091 [Gene_View]  chr2:152341853-152591001 [Contig_View]  NEB [Vega]
ICGC DataPortalENSG00000183091
TCGA cBioPortalNEB
AceView (NCBI)NEB
Genatlas (Paris)NEB
WikiGenes4703
SOURCE (Princeton)NEB
Genetics Home Reference (NIH)NEB
Genomic and cartography
GoldenPath hg19 (UCSC)NEB  -     chr2:152341853-152591001 -  2q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NEB  -     2q23.3   [Description]    (hg38-Dec_2013)
EnsemblNEB - 2q23.3 [CytoView hg19]  NEB - 2q23.3 [CytoView hg38]
Mapping of homologs : NCBINEB [Mapview hg19]  NEB [Mapview hg38]
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)NC_000002 NC_018913 NG_009382 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)NEB
Cluster EST : UnigeneHs.588655 [ NCBI ]
CGAP (NCI)Hs.588655
Alternative Splicing GalleryENSG00000183091
Gene ExpressionNEB [ NCBI-GEO ]   NEB [ EBI - ARRAY_EXPRESS ]   NEB [ SEEK ]   NEB [ MEM ]
Gene Expression Viewer (FireBrowse)NEB [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4703
GTEX Portal (Tissue expression)NEB
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20929   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20929  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20929
Splice isoforms : SwissVarP20929
PhosPhoSitePlusP20929
Domaine pattern : Prosite (Expaxy)NEBULIN (PS51216)    SH3 (PS50002)   
Domains : Interpro (EBI)Nebulin    Nebulin_repeat    SH3_domain   
Domain families : Pfam (Sanger)Nebulin (PF00880)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00880    pfam14604   
Domain families : Smart (EMBL)NEBU (SM00227)  SH3 (SM00326)  
Conserved Domain (NCBI)NEB
DMDM Disease mutations4703
Blocks (Seattle)NEB
PDB (SRS)1ARK    1NEB   
PDB (PDBSum)1ARK    1NEB   
PDB (IMB)1ARK    1NEB   
PDB (RSDB)1ARK    1NEB   
Structural Biology KnowledgeBase1ARK    1NEB   
SCOP (Structural Classification of Proteins)1ARK    1NEB   
CATH (Classification of proteins structures)1ARK    1NEB   
SuperfamilyP20929
Human Protein AtlasENSG00000183091
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
STRING (EMBL)NEB
ZODIACNEB
Ontologies - Pathways
QuickGOP20929
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 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 exosome  
NDEx NetworkNEB
Atlas of Cancer Signalling NetworkNEB
Wikipedia pathwaysNEB
Orthology - Evolution
OrthoDB4703
GeneTree (enSembl)ENSG00000183091
Phylogenetic Trees/Animal Genes : TreeFamNEB
HOVERGENP20929
HOGENOMP20929
Homologs : HomoloGeneNEB
Homology/Alignments : Family Browser (UCSC)NEB
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEB [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEB
dbVarNEB
ClinVarNEB
1000_GenomesNEB 
Exome Variant ServerNEB
ExAC (Exome Aggregation Consortium)NEB (select the gene name)
Genetic variants : HAPMAP4703
Genomic Variants (DGV)NEB [DGVbeta]
DECIPHER (Syndromes)2:152341853-152591001  ENSG00000183091
CONAN: Copy Number AnalysisNEB 
Mutations
ICGC Data PortalNEB 
TCGA Data PortalNEB 
Broad Tumor PortalNEB
OASIS PortalNEB [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEB  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNEB
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NEB
DgiDB (Drug Gene Interaction Database)NEB
DoCM (Curated mutations)NEB (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEB (select a term)
intoGenNEB
Cancer3DNEB(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM161650    256030   
Orphanet17906    17907    17908    17909    22749   
MedgenNEB
Genetic Testing Registry NEB
NextProtP20929 [Medical]
TSGene4703
GENETestsNEB
Huge Navigator NEB [HugePedia]
snp3D : Map Gene to Disease4703
BioCentury BCIQNEB
ClinGenNEB
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4703
Chemical/Pharm GKB GenePA31530
Clinical trialNEB
Miscellaneous
canSAR (ICR)NEB (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEB
EVEXNEB
GoPubMedNEB
iHOPNEB
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 19:45:39 CET 2016

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