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NCOA2 (nuclear receptor coactivator 2)

Identity

Alias_symbol (synonym)TIF2
GRIP1
NCoA-2
KAT13C
bHLHe75
Other aliasSRC2
HGNC (Hugo) NCOA2
LocusID (NCBI) 10499
Atlas_Id 141
Location 8q13.3  [Link to chromosome band 8q13]
Location_base_pair Starts at 70109762 and ends at 70404238 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		AHRR (5p15.33) / NCOA2 (8q13.3)AKAP13 (15q25.3) / NCOA2 (8q13.3)ETV6 (12p13.2) / NCOA2 (8q13.3)
GTF2I (7q11.23) / NCOA2 (8q13.3)HEY1 (8q21.13) / NCOA2 (8q13.3)HMGN3 (6q14.1) / NCOA2 (8q13.3)
KAT6A (8p11.21) / NCOA2 (8q13.3)NCOA2 (8q13.3) / ARFGEF1 (8q13.2)NCOA2 (8q13.3) / CAPZB (1p36.13)
NCOA2 (8q13.3) / HEY1 (8q21.13)NCOA2 (8q13.3) / KAT6A (8p11.21)NCOA2 (8q13.3) / KLHL28 (14q21.2)
NCOA2 (8q13.3) / LEPROTL1 (8p12)NCOA2 (8q13.3) / MAP2K3 (17p11.2)NCOA2 (8q13.3) / NCALD (8q22.3)
NCOA2 (8q13.3) / NCOA2 (8q13.3)NCOA2 (8q13.3) / PTPRE (10q26.2)NCOA2 (8q13.3) / RHOB (2p24.1)
NCOA2 (8q13.3) / RUNXBP2 ()NCOA2 (8q13.3) / SLC35B4 (7q33)NCOA2 (8q13.3) / SLC7A1 (13q12.3)
NCOA2 (8q13.3) / SNTG1 (8q11.21)NCOA2 (8q13.3) / ST18 (8q11.23)NCOA2 (8q13.3) / XKR9 (8q13.3)
NCOA2 (8q13.3) / ZNF704 (8q21.13)PAX3 (2q36.1) / NCOA2 (8q13.3)SH2D6 (2p11.2) / NCOA2 (8q13.3)
SRF (6p21.1) / NCOA2 (8q13.3)TEAD1 (11p15.3) / NCOA2 (8q13.3)THSD7B (2q22.1) / NCOA2 (8q13.3)
HEY1 8q21.13 / NCOA2 8q13.3PAX3 2q36.1 / NCOA2 8q13.3NCOA2 8q13.3 / ARFGEF1 8q13.2
NCOA2 8q13.3 / LEPROTL1 8p12NCOA2 8q13.3 / NCALD 8q22.3NCOA2 8q13.3 / ST18 8q11.23
NCOA2 8q13.3 / XKR9 8q13.3SH2D6 2p11.2 / NCOA2 8q13.3

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

 

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  inv(8)(p11q13) KAT6A/NCOA2
t(8;12)(q13;p13) ETV6/NCOA2
t(8;16)(p11;p13) KAT6A/CREBBP

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 5 ]
  Soft Tissues: Alveolar rhabdomyosarcoma
Soft Tissues: Angiofibroma
Soft Tissues: Rhabdomyosarcoma
Soft tissue tumors: an overview
Soft Tissues: Alveolar rhabdomyosarcoma with t(2;2)(p23;q35) PAX3/NCOA1

External links

Nomenclature
HGNC (Hugo)NCOA2   7669
Cards
Entrez_Gene (NCBI)NCOA2  10499  nuclear receptor coactivator 2
AliasesGRIP1; KAT13C; NCoA-2; SRC2; 
TIF2; bHLHe75
GeneCards (Weizmann)NCOA2
Ensembl hg19 (Hinxton)ENSG00000140396 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000140396 [Gene_View]  chr8:70109762-70404238 [Contig_View]  NCOA2 [Vega]
ICGC DataPortalENSG00000140396
TCGA cBioPortalNCOA2
AceView (NCBI)NCOA2
Genatlas (Paris)NCOA2
WikiGenes10499
SOURCE (Princeton)NCOA2
Genetics Home Reference (NIH)NCOA2
Genomic and cartography
GoldenPath hg38 (UCSC)NCOA2  -     chr8:70109762-70404238 -  8q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NCOA2  -     8q13.3   [Description]    (hg19-Feb_2009)
EnsemblNCOA2 - 8q13.3 [CytoView hg19]  NCOA2 - 8q13.3 [CytoView hg38]
Mapping of homologs : NCBINCOA2 [Mapview hg19]  NCOA2 [Mapview hg38]
OMIM601993   
Gene and transcription
Genbank (Entrez)AI652063 AK298528 AK308426 AL712418 AW504723
RefSeq transcript (Entrez)NM_001321703 NM_001321707 NM_001321711 NM_001321712 NM_001321713 NM_006540
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NCOA2
Cluster EST : UnigeneHs.595378 [ NCBI ]
CGAP (NCI)Hs.595378
Alternative Splicing GalleryENSG00000140396
Gene ExpressionNCOA2 [ NCBI-GEO ]   NCOA2 [ EBI - ARRAY_EXPRESS ]   NCOA2 [ SEEK ]   NCOA2 [ MEM ]
Gene Expression Viewer (FireBrowse)NCOA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10499
GTEX Portal (Tissue expression)NCOA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15596   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15596  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15596
Splice isoforms : SwissVarQ15596
PhosPhoSitePlusQ15596
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)bHLH_dom    DUF1518    DUF4927    NCOA2    Nuc_rcpt_coact    Nuc_rcpt_coact_Ncoa-typ    Nuclear_rcpt_coactivator    PAS    PAS_fold    SRC/p160_LXXLL   
Domain families : Pfam (Sanger)DUF1518 (PF07469)    DUF4927 (PF16279)    Nuc_rec_co-act (PF08815)    PAS (PF00989)    SRC-1 (PF08832)   
Domain families : Pfam (NCBI)pfam07469    pfam16279    pfam08815    pfam00989    pfam08832   
Domain families : Smart (EMBL)DUF1518 (SM01151)  HLH (SM00353)  PAS (SM00091)  
Conserved Domain (NCBI)NCOA2
DMDM Disease mutations10499
Blocks (Seattle)NCOA2
PDB (SRS)###############################################################################################################################################################################################################################################################   
PDB (PDBSum)###############################################################################################################################################################################################################################################################   
PDB (IMB)###############################################################################################################################################################################################################################################################   
PDB (RSDB)###############################################################################################################################################################################################################################################################   
Structural Biology KnowledgeBase###############################################################################################################################################################################################################################################################   
SCOP (Structural Classification of Proteins)###############################################################################################################################################################################################################################################################   
CATH (Classification of proteins structures)###############################################################################################################################################################################################################################################################   
SuperfamilyQ15596
Human Protein AtlasENSG00000140396
Peptide AtlasQ15596
HPRD09066
IPIIPI00018251   IPI00985123   IPI00983197   IPI00976503   IPI00974076   
Protein Interaction databases
DIP (DOE-UCLA)Q15596
IntAct (EBI)Q15596
FunCoupENSG00000140396
BioGRIDNCOA2
STRING (EMBL)NCOA2
ZODIACNCOA2
Ontologies - Pathways
QuickGOQ15596
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding  chromatin binding  transcription coactivator activity  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of glucose metabolic process  bile acid and bile salt transport  nuclear body  ligand-dependent nuclear receptor binding  aryl hydrocarbon receptor binding  protein domain specific binding  ligand-dependent nuclear receptor transcription coactivator activity  thyroid hormone receptor coactivator activity  intracellular receptor signaling pathway  cellular response to hormone stimulus  circadian regulation of gene expression  nuclear hormone receptor binding  protein complex  cellular lipid metabolic process  locomotor rhythm  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  cellular response to Thyroglobulin triiodothyronine  positive regulation of receptor activity  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding  chromatin binding  transcription coactivator activity  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  transcription, DNA-templated  regulation of transcription, DNA-templated  regulation of glucose metabolic process  bile acid and bile salt transport  nuclear body  ligand-dependent nuclear receptor binding  aryl hydrocarbon receptor binding  protein domain specific binding  ligand-dependent nuclear receptor transcription coactivator activity  thyroid hormone receptor coactivator activity  intracellular receptor signaling pathway  cellular response to hormone stimulus  circadian regulation of gene expression  nuclear hormone receptor binding  protein complex  cellular lipid metabolic process  locomotor rhythm  positive regulation of transcription from RNA polymerase II promoter  protein dimerization activity  cellular response to Thyroglobulin triiodothyronine  positive regulation of receptor activity  
Pathways : KEGGThyroid hormone signaling pathway   
NDEx NetworkNCOA2
Atlas of Cancer Signalling NetworkNCOA2
Wikipedia pathwaysNCOA2
Orthology - Evolution
OrthoDB10499
GeneTree (enSembl)ENSG00000140396
Phylogenetic Trees/Animal Genes : TreeFamNCOA2
HOVERGENQ15596
HOGENOMQ15596
Homologs : HomoloGeneNCOA2
Homology/Alignments : Family Browser (UCSC)NCOA2
Gene fusions - Rearrangements
Fusion : MitelmanAHRR/NCOA2 [5p15.33/8q13.3]  [t(5;8)(p15;q13)]  
Fusion : MitelmanETV6/NCOA2 [12p13.2/8q13.3]  [t(8;12)(q13;p13)]  
Fusion : MitelmanGTF2I/NCOA2 [7q11.23/8q13.3]  [t(7;8;14)(q11;q13;q31)]  
Fusion : MitelmanHEY1/NCOA2 [8q21.13/8q13.3]  [t(8;8)(q13;q21)]  
Fusion : MitelmanKAT6A/NCOA2 [8p11.21/8q13.3]  [inv(8)(p11q13)]  
Fusion : MitelmanNCOA2/ARFGEF1 [8q13.3/8q13.2]  [t(8;8)(q13;q13)]  
Fusion : MitelmanNCOA2/LEPROTL1 [8q13.3/8p12]  [t(8;8)(p12;q13)]  
Fusion : MitelmanNCOA2/NCALD [8q13.3/8q22.3]  [t(8;8)(q13;q22)]  
Fusion : MitelmanNCOA2/ST18 [8q13.3/8q11.23]  [t(8;8)(q11;q13)]  
Fusion : MitelmanNCOA2/XKR9 [8q13.3/8q13.3]  [t(8;8)(q13;q13)]  
Fusion : MitelmanNCOA2/ZNF704 [8q13.3/8q21.13]  [t(8;8)(q13;q21)]  
Fusion : MitelmanPAX3/NCOA2 [2q36.1/8q13.3]  [t(2;8)(q36;q13)]  
Fusion : MitelmanSH2D6/NCOA2 [2p11.2/8q13.3]  [t(2;8)(p11;q13)]  
Fusion : MitelmanSRF/NCOA2 [6p21.1/8q13.3]  [t(6;8)(p21;q13)]  
Fusion : MitelmanTEAD1/NCOA2 [11p15.3/8q13.3]  [t(8;11)(q13;p15)]  
Fusion: TCGANCOA2 8q13.3 ARFGEF1 8q13.2 BRCA
Fusion: TCGANCOA2 8q13.3 LEPROTL1 8p12 LUAD
Fusion: TCGANCOA2 8q13.3 NCALD 8q22.3 BRCA
Fusion: TCGANCOA2 8q13.3 ST18 8q11.23 SKCM
Fusion: TCGANCOA2 8q13.3 XKR9 8q13.3 LUAD
Fusion: TCGASH2D6 2p11.2 NCOA2 8q13.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNCOA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NCOA2
dbVarNCOA2
ClinVarNCOA2
1000_GenomesNCOA2 
Exome Variant ServerNCOA2
ExAC (Exome Aggregation Consortium)NCOA2 (select the gene name)
Genetic variants : HAPMAP10499
Genomic Variants (DGV)NCOA2 [DGVbeta]
DECIPHERNCOA2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNCOA2 
Mutations
ICGC Data PortalNCOA2 
TCGA Data PortalNCOA2 
Broad Tumor PortalNCOA2
OASIS PortalNCOA2 [ Somatic mutations - Copy number]
Cancer Gene: CensusNCOA2 
Somatic Mutations in Cancer : COSMICNCOA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNCOA2
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 NCOA2
DgiDB (Drug Gene Interaction Database)NCOA2
DoCM (Curated mutations)NCOA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NCOA2 (select a term)
intoGenNCOA2
Cancer3DNCOA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601993   
Orphanet
MedgenNCOA2
Genetic Testing Registry NCOA2
NextProtQ15596 [Medical]
TSGene10499
GENETestsNCOA2
Target ValidationNCOA2
Huge Navigator NCOA2 [HugePedia]
snp3D : Map Gene to Disease10499
BioCentury BCIQNCOA2
ClinGenNCOA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10499
Chemical/Pharm GKB GenePA31471
Clinical trialNCOA2
Miscellaneous
canSAR (ICR)NCOA2 (select the gene name)
Probes
Litterature
PubMed211 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNCOA2
EVEXNCOA2
GoPubMedNCOA2
iHOPNCOA2
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 12:46:21 CEST 2017
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