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NBEAL2 (neurobeachin like 2)

Identity

Alias_namesneurobeachin-like 2
Alias_symbol (synonym)KIAA0540
Other aliasBDPLT4
GPS
HGNC (Hugo) NBEAL2
LocusID (NCBI) 23218
Atlas_Id 70708
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 46979683 and ends at 47009704 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NBEAL2 (3p21.31) / NBEAL2 (3p21.31)NBEAL2 (3p21.31) / TMC2 (20p13)TNFRSF13B (17p11.2) / NBEAL2 (3p21.31)

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)NBEAL2   31928
LRG (Locus Reference Genomic)LRG_568
Cards
Entrez_Gene (NCBI)NBEAL2  23218  neurobeachin like 2
AliasesBDPLT4; GPS
GeneCards (Weizmann)NBEAL2
Ensembl hg19 (Hinxton)ENSG00000160796 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160796 [Gene_View]  chr3:46979683-47009704 [Contig_View]  NBEAL2 [Vega]
ICGC DataPortalENSG00000160796
TCGA cBioPortalNBEAL2
AceView (NCBI)NBEAL2
Genatlas (Paris)NBEAL2
WikiGenes23218
SOURCE (Princeton)NBEAL2
Genetics Home Reference (NIH)NBEAL2
Genomic and cartography
GoldenPath hg38 (UCSC)NBEAL2  -     chr3:46979683-47009704 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NBEAL2  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblNBEAL2 - 3p21.31 [CytoView hg19]  NBEAL2 - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBINBEAL2 [Mapview hg19]  NBEAL2 [Mapview hg38]
OMIM139090   614169   
Gene and transcription
Genbank (Entrez)AB011112 AK074036 AK092871 AK131104 AK293387
RefSeq transcript (Entrez)NM_015175
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NBEAL2
Cluster EST : UnigeneHs.437043 [ NCBI ]
CGAP (NCI)Hs.437043
Alternative Splicing GalleryENSG00000160796
Gene ExpressionNBEAL2 [ NCBI-GEO ]   NBEAL2 [ EBI - ARRAY_EXPRESS ]   NBEAL2 [ SEEK ]   NBEAL2 [ MEM ]
Gene Expression Viewer (FireBrowse)NBEAL2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23218
GTEX Portal (Tissue expression)NBEAL2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZNJ1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZNJ1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZNJ1
Splice isoforms : SwissVarQ6ZNJ1
PhosPhoSitePlusQ6ZNJ1
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)ARM-type_fold    BEACH_dom    ConA-like_dom    DUF4704    PH-BEACH_dom    PH_dom-like    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)Beach (PF02138)    DUF4704 (PF15787)    PH_BEACH (PF14844)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam02138    pfam15787    pfam14844    pfam00400   
Domain families : Smart (EMBL)Beach (SM01026)  WD40 (SM00320)  
Conserved Domain (NCBI)NBEAL2
DMDM Disease mutations23218
Blocks (Seattle)NBEAL2
SuperfamilyQ6ZNJ1
Human Protein AtlasENSG00000160796
Peptide AtlasQ6ZNJ1
IPIIPI00894235   IPI00852973   IPI00432423   IPI00925193   IPI00180515   IPI00815861   IPI00925380   IPI00924933   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZNJ1
IntAct (EBI)Q6ZNJ1
FunCoupENSG00000160796
BioGRIDNBEAL2
STRING (EMBL)NBEAL2
ZODIACNBEAL2
Ontologies - Pathways
QuickGOQ6ZNJ1
Ontology : AmiGOendoplasmic reticulum  plasma membrane  platelet formation  neutrophil degranulation  tertiary granule membrane  ficolin-1-rich granule membrane  
Ontology : EGO-EBIendoplasmic reticulum  plasma membrane  platelet formation  neutrophil degranulation  tertiary granule membrane  ficolin-1-rich granule membrane  
NDEx NetworkNBEAL2
Atlas of Cancer Signalling NetworkNBEAL2
Wikipedia pathwaysNBEAL2
Orthology - Evolution
OrthoDB23218
GeneTree (enSembl)ENSG00000160796
Phylogenetic Trees/Animal Genes : TreeFamNBEAL2
HOVERGENQ6ZNJ1
HOGENOMQ6ZNJ1
Homologs : HomoloGeneNBEAL2
Homology/Alignments : Family Browser (UCSC)NBEAL2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNBEAL2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NBEAL2
dbVarNBEAL2
ClinVarNBEAL2
1000_GenomesNBEAL2 
Exome Variant ServerNBEAL2
ExAC (Exome Aggregation Consortium)NBEAL2 (select the gene name)
Genetic variants : HAPMAP23218
Genomic Variants (DGV)NBEAL2 [DGVbeta]
DECIPHERNBEAL2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNBEAL2 
Mutations
ICGC Data PortalNBEAL2 
TCGA Data PortalNBEAL2 
Broad Tumor PortalNBEAL2
OASIS PortalNBEAL2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNBEAL2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNBEAL2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NBEAL2
DgiDB (Drug Gene Interaction Database)NBEAL2
DoCM (Curated mutations)NBEAL2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NBEAL2 (select a term)
intoGenNBEAL2
Cancer3DNBEAL2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM139090    614169   
Orphanet8697   
MedgenNBEAL2
Genetic Testing Registry NBEAL2
NextProtQ6ZNJ1 [Medical]
TSGene23218
GENETestsNBEAL2
Target ValidationNBEAL2
Huge Navigator NBEAL2 [HugePedia]
snp3D : Map Gene to Disease23218
BioCentury BCIQNBEAL2
ClinGenNBEAL2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23218
Chemical/Pharm GKB GenePA128394612
Clinical trialNBEAL2
Miscellaneous
canSAR (ICR)NBEAL2 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNBEAL2
EVEXNBEAL2
GoPubMedNBEAL2
iHOPNBEAL2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:46 CEST 2017

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