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N4BP2L2 (NEDD4 binding protein 2 like 2)

Identity

Alias_symbol (synonym)CG005
PFAAP5
Other alias92M18.3
CG016
HGNC (Hugo) N4BP2L2
LocusID (NCBI) 10443
Atlas_Id 56270
Location 13q13.1  [Link to chromosome band 13q13]
Location_base_pair Starts at 32432488 and ends at 32538885 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADAMTS3 (4q13.3) / N4BP2L2 (13q13.1)BRCA2 (13q13.1) / N4BP2L2 (13q13.1)BRPF3 (6p21.31) / N4BP2L2 (13q13.1)
DCUN1D4 (4q12) / N4BP2L2 (13q13.1)MBP (18q23) / N4BP2L2 (13q13.1)MYCBP2 (13q22.3) / N4BP2L2 (13q13.1)
N4BP2L2 (13q13.1) / ADAMTS3 (4q13.3)N4BP2L2 (13q13.1) / MBP (18q23)N4BP2L2 (13q13.1) / MORN1 (1p36.33)
N4BP2L2 (13q13.1) / N4BP2L2 (13q13.1)

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)N4BP2L2   26916
Cards
Entrez_Gene (NCBI)N4BP2L2  10443  NEDD4 binding protein 2 like 2
Aliases92M18.3; CG005; CG016; PFAAP5
GeneCards (Weizmann)N4BP2L2
Ensembl hg19 (Hinxton)ENSG00000244754 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000244754 [Gene_View]  chr13:32432488-32538885 [Contig_View]  N4BP2L2 [Vega]
ICGC DataPortalENSG00000244754
TCGA cBioPortalN4BP2L2
AceView (NCBI)N4BP2L2
Genatlas (Paris)N4BP2L2
WikiGenes10443
SOURCE (Princeton)N4BP2L2
Genetics Home Reference (NIH)N4BP2L2
Genomic and cartography
GoldenPath hg38 (UCSC)N4BP2L2  -     chr13:32432488-32538885 -  13q13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)N4BP2L2  -     13q13.1   [Description]    (hg19-Feb_2009)
EnsemblN4BP2L2 - 13q13.1 [CytoView hg19]  N4BP2L2 - 13q13.1 [CytoView hg38]
Mapping of homologs : NCBIN4BP2L2 [Mapview hg19]  N4BP2L2 [Mapview hg38]
OMIM615788   
Gene and transcription
Genbank (Entrez)AF530063 AK093514 AK123084 AK298546 AK310280
RefSeq transcript (Entrez)NM_001278432 NM_001320836 NM_014887 NM_033111
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)N4BP2L2
Cluster EST : UnigeneHs.507680 [ NCBI ]
CGAP (NCI)Hs.507680
Alternative Splicing GalleryENSG00000244754
Gene ExpressionN4BP2L2 [ NCBI-GEO ]   N4BP2L2 [ EBI - ARRAY_EXPRESS ]   N4BP2L2 [ SEEK ]   N4BP2L2 [ MEM ]
Gene Expression Viewer (FireBrowse)N4BP2L2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10443
GTEX Portal (Tissue expression)N4BP2L2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92802   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92802  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92802
Splice isoforms : SwissVarQ92802
PhosPhoSitePlusQ92802
Domains : Interpro (EBI)NEDD4-bind_pro_2-like_2    P-loop_NTPase   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)N4BP2L2
DMDM Disease mutations10443
Blocks (Seattle)N4BP2L2
SuperfamilyQ92802
Human Protein AtlasENSG00000244754
Peptide AtlasQ92802
HPRD15119
IPIIPI00007093   IPI00856073   IPI00011822   IPI00796335   IPI00966309   IPI00966599   
Protein Interaction databases
DIP (DOE-UCLA)Q92802
IntAct (EBI)Q92802
FunCoupENSG00000244754
BioGRIDN4BP2L2
STRING (EMBL)N4BP2L2
ZODIACN4BP2L2
Ontologies - Pathways
QuickGOQ92802
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  molecular_function  protein binding  nucleus  transcriptional repressor complex  enzyme binding  extracellular exosome  positive regulation of hematopoietic stem cell proliferation  negative regulation of hematopoietic stem cell differentiation  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II transcription corepressor activity  molecular_function  protein binding  nucleus  transcriptional repressor complex  enzyme binding  extracellular exosome  positive regulation of hematopoietic stem cell proliferation  negative regulation of hematopoietic stem cell differentiation  
NDEx NetworkN4BP2L2
Atlas of Cancer Signalling NetworkN4BP2L2
Wikipedia pathwaysN4BP2L2
Orthology - Evolution
OrthoDB10443
GeneTree (enSembl)ENSG00000244754
Phylogenetic Trees/Animal Genes : TreeFamN4BP2L2
HOVERGENQ92802
HOGENOMQ92802
Homologs : HomoloGeneN4BP2L2
Homology/Alignments : Family Browser (UCSC)N4BP2L2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerN4BP2L2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)N4BP2L2
dbVarN4BP2L2
ClinVarN4BP2L2
1000_GenomesN4BP2L2 
Exome Variant ServerN4BP2L2
ExAC (Exome Aggregation Consortium)N4BP2L2 (select the gene name)
Genetic variants : HAPMAP10443
Genomic Variants (DGV)N4BP2L2 [DGVbeta]
DECIPHERN4BP2L2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisN4BP2L2 
Mutations
ICGC Data PortalN4BP2L2 
TCGA Data PortalN4BP2L2 
Broad Tumor PortalN4BP2L2
OASIS PortalN4BP2L2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICN4BP2L2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDN4BP2L2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch N4BP2L2
DgiDB (Drug Gene Interaction Database)N4BP2L2
DoCM (Curated mutations)N4BP2L2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)N4BP2L2 (select a term)
intoGenN4BP2L2
Cancer3DN4BP2L2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615788   
Orphanet
MedgenN4BP2L2
Genetic Testing Registry N4BP2L2
NextProtQ92802 [Medical]
TSGene10443
GENETestsN4BP2L2
Target ValidationN4BP2L2
Huge Navigator N4BP2L2 [HugePedia]
snp3D : Map Gene to Disease10443
BioCentury BCIQN4BP2L2
ClinGenN4BP2L2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10443
Chemical/Pharm GKB GenePA162396632
Clinical trialN4BP2L2
Miscellaneous
canSAR (ICR)N4BP2L2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineN4BP2L2
EVEXN4BP2L2
GoPubMedN4BP2L2
iHOPN4BP2L2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:45:57 CEST 2017

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