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NAB2 (NGFI-A binding protein 2)

Identity

Alias_namesNGFI-A binding protein 2 (EGR1 binding protein 2)
Alias_symbol (synonym)MADER
Other alias
HGNC (Hugo) NAB2
LocusID (NCBI) 4665
Atlas_Id 53246
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 57089114 and ends at 57095476 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)
NAB2 (12q13.3) / PDGFRB (5q32)NAB2 (12q13.3) / STAT6 (12q13.3)STAT6 (12q13.3) / NAB2 (12q13.3)
STAT6 NAB2

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  inv(12)(q13q13) NAB2/STAT6

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft tissue tumors: an overview
inv(12)(q13q13) NAB2/STAT6
t(5;12)(q32;q13) NAB2/PDGFRB

External links

Nomenclature
HGNC (Hugo)NAB2   7627
Cards
Entrez_Gene (NCBI)NAB2  4665  NGFI-A binding protein 2
AliasesMADER
GeneCards (Weizmann)NAB2
Ensembl hg19 (Hinxton)ENSG00000166886 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166886 [Gene_View]  ENSG00000166886 [Sequence]  chr12:57089114-57095476 [Contig_View]  NAB2 [Vega]
ICGC DataPortalENSG00000166886
TCGA cBioPortalNAB2
AceView (NCBI)NAB2
Genatlas (Paris)NAB2
WikiGenes4665
SOURCE (Princeton)NAB2
Genetics Home Reference (NIH)NAB2
Genomic and cartography
GoldenPath hg38 (UCSC)NAB2  -     chr12:57089114-57095476 +  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NAB2  -     12q13.3   [Description]    (hg19-Feb_2009)
GoldenPathNAB2 - 12q13.3 [CytoView hg19]  NAB2 - 12q13.3 [CytoView hg38]
Genome Data Viewer NCBINAB2 [Mapview hg19]  
OMIM602381   
Gene and transcription
Genbank (Entrez)AK314229 BC007756 BC065931 BQ956141 DA496543
RefSeq transcript (Entrez)NM_001330305 NM_005967
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NAB2
Alternative Splicing GalleryENSG00000166886
Gene ExpressionNAB2 [ NCBI-GEO ]   NAB2 [ EBI - ARRAY_EXPRESS ]   NAB2 [ SEEK ]   NAB2 [ MEM ]
Gene Expression Viewer (FireBrowse)NAB2 [ Firebrowse - Broad ]
GenevisibleExpression of NAB2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4665
GTEX Portal (Tissue expression)NAB2
Human Protein AtlasENSG00000166886-NAB2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15742   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15742  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15742
Splice isoforms : SwissVarQ15742
PhosPhoSitePlusQ15742
Domains : Interpro (EBI)NAB_co-repressor_dom    NAB_fam    Nab_N    NCD2_sf    SAM/pointed_sf   
Domain families : Pfam (Sanger)NCD1 (PF04904)    NCD2 (PF04905)   
Domain families : Pfam (NCBI)pfam04904    pfam04905   
Conserved Domain (NCBI)NAB2
DMDM Disease mutations4665
SuperfamilyQ15742
Human Protein Atlas [tissue]ENSG00000166886-NAB2 [tissue]
Peptide AtlasQ15742
HPRD03854
IPIIPI00019432   IPI00220866   IPI00220867   
Protein Interaction databases
DIP (DOE-UCLA)Q15742
IntAct (EBI)Q15742
FunCoupENSG00000166886
BioGRIDNAB2
STRING (EMBL)NAB2
ZODIACNAB2
Ontologies - Pathways
QuickGOQ15742
Ontology : AmiGOendochondral ossification  transcription corepressor activity  protein binding  nucleus  regulation of transcription, DNA-templated  transcription factor binding  Schwann cell differentiation  negative regulation of transcription by RNA polymerase III  myelination  identical protein binding  regulation of epidermis development  positive regulation of tau-protein kinase activity  
Ontology : EGO-EBIendochondral ossification  transcription corepressor activity  protein binding  nucleus  regulation of transcription, DNA-templated  transcription factor binding  Schwann cell differentiation  negative regulation of transcription by RNA polymerase III  myelination  identical protein binding  regulation of epidermis development  positive regulation of tau-protein kinase activity  
NDEx NetworkNAB2
Atlas of Cancer Signalling NetworkNAB2
Wikipedia pathwaysNAB2
Orthology - Evolution
OrthoDB4665
GeneTree (enSembl)ENSG00000166886
Phylogenetic Trees/Animal Genes : TreeFamNAB2
HOGENOMQ15742
Homologs : HomoloGeneNAB2
Homology/Alignments : Family Browser (UCSC)NAB2
Gene fusions - Rearrangements
Fusion : MitelmanNAB2/PDGFRB [12q13.3/5q32]  
Fusion : MitelmanNAB2/STAT6 [12q13.3/12q13.3]  
Fusion : QuiverNAB2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNAB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NAB2
dbVarNAB2
ClinVarNAB2
1000_GenomesNAB2 
Exome Variant ServerNAB2
GNOMAD BrowserENSG00000166886
Varsome BrowserNAB2
Genetic variants : HAPMAP4665
Genomic Variants (DGV)NAB2 [DGVbeta]
DECIPHERNAB2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNAB2 
Mutations
ICGC Data PortalNAB2 
TCGA Data PortalNAB2 
Broad Tumor PortalNAB2
OASIS PortalNAB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNAB2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNAB2
Mutations and Diseases : HGMDNAB2
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
BioMutaselect NAB2
DgiDB (Drug Gene Interaction Database)NAB2
DoCM (Curated mutations)NAB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NAB2 (select a term)
intoGenNAB2
Cancer3DNAB2 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602381   
Orphanet3735   
DisGeNETNAB2
MedgenNAB2
Genetic Testing Registry NAB2
NextProtQ15742 [Medical]
TSGene4665
GENETestsNAB2
Open Targets GeneticsENSG00000166886  [validation]
snp3D : Map Gene to Disease4665
BioCentury BCIQNAB2
ClinGenNAB2
Clinical trials, drugs, therapy
Protein Interactions : CTD4665
Pharm GKB GenePA31432
Clinical trialNAB2
Miscellaneous
canSAR (ICR)NAB2 (select the gene name)
HarmonizomeNAB2
DataMed IndexNAB2
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNAB2
EVEXNAB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Jul 11 20:01:31 CEST 2020
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