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NEB (nebulin)

Identity

Alias (NCBI)NEB177D
NEM2
HGNC (Hugo) NEB
HGNC Alias symbNEB177D
HGNC Alias namenemaline myopathy type 2
HGNC Previous nameNEM2
LocusID (NCBI) 4703
Atlas_Id 41517
Location 2q23.3  [Link to chromosome band 2q23]
Location_base_pair Starts at 151485339 and ends at 151734476 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    nebulin
AliasesNEB177D; NEM2
GeneCards (Weizmann)NEB
Ensembl hg19 (Hinxton)ENSG00000183091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000183091 [Gene_View]  ENSG00000183091 [Sequence]  chr2:151485339-151734476 [Contig_View]  NEB [Vega]
ICGC DataPortalENSG00000183091
TCGA cBioPortalNEB
AceView (NCBI)NEB
Genatlas (Paris)NEB
SOURCE (Princeton)NEB
Genetics Home Reference (NIH)NEB
Genomic and cartography
GoldenPath hg38 (UCSC)NEB  -     chr2:151485339-151734476 -  2q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEB  -     2q23.3   [Description]    (hg19-Feb_2009)
GoldenPathNEB - 2q23.3 [CytoView hg19]  NEB - 2q23.3 [CytoView hg38]
ImmunoBaseENSG00000183091
genome Data Viewer NCBINEB [Mapview hg19]  
OMIM161650   256030   
Gene and transcription
Genbank (Entrez)AH003593 AH003593 AK056994 AK093855 AK096887
RefSeq transcript (Entrez)NM_001164507 NM_001164508 NM_001271208 NM_004543
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEB
Alternative Splicing GalleryENSG00000183091
Gene ExpressionNEB [ NCBI-GEO ]   NEB [ EBI - ARRAY_EXPRESS ]   NEB [ SEEK ]   NEB [ MEM ]
Gene Expression Viewer (FireBrowse)NEB [ Firebrowse - Broad ]
GenevisibleExpression of NEB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4703
GTEX Portal (Tissue expression)NEB
Human Protein AtlasENSG00000183091-NEB [pathology]   [cell]   [tissue]
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-like    Nebulin_repeat    Nebulin_SH3    SH3-like_dom_sf    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
Blocks (Seattle)NEB
PDB (RSDB)1ARK    1NEB   
PDB Europe1ARK    1NEB   
PDB (PDBSum)1ARK    1NEB   
PDB (IMB)1ARK    1NEB   
Structural Biology KnowledgeBase1ARK    1NEB   
SCOP (Structural Classification of Proteins)1ARK    1NEB   
CATH (Classification of proteins structures)1ARK    1NEB   
SuperfamilyP20929
Human Protein Atlas [tissue]ENSG00000183091-NEB [tissue]
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
BioGRIDNEB
STRING (EMBL)NEB
ZODIACNEB
Ontologies - Pathways
QuickGOP20929
Ontology : AmiGOprotein binding  cytosol  muscle organ development  somatic muscle development  structural constituent of muscle  actin cytoskeleton  Z disc  Z disc  muscle filament sliding  regulation of actin filament length  muscle fiber development  actin filament binding  extracellular exosome  cardiac muscle thin filament assembly  
Ontology : EGO-EBIprotein binding  cytosol  muscle organ development  somatic muscle development  structural constituent of muscle  actin cytoskeleton  Z disc  Z disc  muscle filament sliding  regulation of actin filament length  muscle fiber development  actin filament binding  extracellular exosome  cardiac muscle thin filament assembly  
NDEx NetworkNEB
Atlas of Cancer Signalling NetworkNEB
Wikipedia pathwaysNEB
Orthology - Evolution
OrthoDB4703
GeneTree (enSembl)ENSG00000183091
Phylogenetic Trees/Animal Genes : TreeFamNEB
HOGENOMP20929
Homologs : HomoloGeneNEB
Homology/Alignments : Family Browser (UCSC)NEB
Gene fusions - Rearrangements
Fusion : QuiverNEB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEB [hg38]
dbVarNEB
ClinVarNEB
MonarchNEB
1000_GenomesNEB 
Exome Variant ServerNEB
GNOMAD BrowserENSG00000183091
Varsome BrowserNEB
Genomic Variants (DGV)NEB [DGVbeta]
DECIPHERNEB [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DNEB
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM161650    256030   
Orphanet17906    17907    17908    17909    22749   
DisGeNETNEB
MedgenNEB
Genetic Testing Registry NEB
NextProtP20929 [Medical]
GENETestsNEB
Target ValidationNEB
Huge Navigator NEB [HugePedia]
ClinGenNEB
Clinical trials, drugs, therapy
MyCancerGenomeNEB
Protein Interactions : CTD
Pharm GKB GenePA31530
PharosP20929
Clinical trialNEB
Miscellaneous
canSAR (ICR)NEB (select the gene name)
HarmonizomeNEB
DataMed IndexNEB
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXNEB
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jan 1 18:28:35 CET 2021
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