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BAZ2A (bromodomain adjacent to zinc finger domain 2A)

Identity

Alias (NCBI)TIP5
WALp3
HGNC (Hugo) BAZ2A
HGNC Alias symbKIAA0314
TIP5
WALp3
HGNC Alias nameTTF-I interacting peptide 5
LocusID (NCBI) 11176
Atlas_Id 53416
Location 12q13.3  [Link to chromosome band 12q13]
Location_base_pair Starts at 56595596 and ends at 56636359 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)
BAZ2A (12q13.3) / ACVR1B (12q13.13)BAZ2A (12q13.3) / BAZ2A (12q13.3)BAZ2A (12q13.3) / BIN2 (12q13.13)
BAZ2A (12q13.3) / CKAP5 (11p11.2)BAZ2A (12q13.3) / CSDE1 (1p13.2)BAZ2A (12q13.3) / ERGIC3 (20q11.22)
BAZ2A (12q13.3) / PRIM1 (12q13.3)BAZ2A (12q13.3) / TBC1D12 (10q23.33)ETV6 (12p13.2) / BAZ2A (12q13.3)
RBM6 (3p21.31) / BAZ2A (12q13.3)SNAP23 (15q15.1) / BAZ2A (12q13.3)TM4SF19 (3q29) / BAZ2A (12q13.3)
UBR5 (8q22.3) / BAZ2A (12q13.3)BAZ2A 12q13.3 / ACVR1B 12q13.13BAZ2A 12q13.3 / BIN2 12q13.13
BAZ2A 12q13.3 / PRIM1 12q13.3

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(12;12)(p13;q13) ETV6/BAZ2A


External links

 

Nomenclature
HGNC (Hugo)BAZ2A   962
Cards
Entrez_Gene (NCBI)BAZ2A    bromodomain adjacent to zinc finger domain 2A
AliasesTIP5; WALp3
GeneCards (Weizmann)BAZ2A
Ensembl hg19 (Hinxton)ENSG00000076108 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000076108 [Gene_View]  ENSG00000076108 [Sequence]  chr12:56595596-56636359 [Contig_View]  BAZ2A [Vega]
ICGC DataPortalENSG00000076108
TCGA cBioPortalBAZ2A
AceView (NCBI)BAZ2A
Genatlas (Paris)BAZ2A
SOURCE (Princeton)BAZ2A
Genetics Home Reference (NIH)BAZ2A
Genomic and cartography
GoldenPath hg38 (UCSC)BAZ2A  -     chr12:56595596-56636359 -  12q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BAZ2A  -     12q13.3   [Description]    (hg19-Feb_2009)
GoldenPathBAZ2A - 12q13.3 [CytoView hg19]  BAZ2A - 12q13.3 [CytoView hg38]
ImmunoBaseENSG00000076108
Genome Data Viewer NCBIBAZ2A [Mapview hg19]  
OMIM605682   
Gene and transcription
Genbank (Entrez)AB002312 AF000422 AK023830 AK023842 AK127775
RefSeq transcript (Entrez)NM_001300905 NM_001351156 NM_013449
Consensus coding sequences : CCDS (NCBI)BAZ2A
Gene ExpressionBAZ2A [ NCBI-GEO ]   BAZ2A [ EBI - ARRAY_EXPRESS ]   BAZ2A [ SEEK ]   BAZ2A [ MEM ]
Gene Expression Viewer (FireBrowse)BAZ2A [ Firebrowse - Broad ]
GenevisibleExpression of BAZ2A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11176
GTEX Portal (Tissue expression)BAZ2A
Human Protein AtlasENSG00000076108-BAZ2A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UIF9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UIF9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UIF9
PhosPhoSitePlusQ9UIF9
Domaine pattern : Prosite (Expaxy)BROMODOMAIN_1 (PS00633)    BROMODOMAIN_2 (PS50014)    DDT (PS50827)    MBD (PS50982)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)AT_hook_DNA-bd_motif    BAZ2A/B_Bromo    Bromodomain    Bromodomain-like_sf    Bromodomain_CS    DDT_dom    DNA-bd_dom_sf    Methyl_CpG_DNA-bd    TIP5    WHIM1_dom    WHIM2_dom    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)Bromodomain (PF00439)    DDT (PF02791)    MBD (PF01429)    PHD (PF00628)    WHIM1 (PF15612)    WSD (PF15613)   
Domain families : Pfam (NCBI)pfam00439    pfam02791    pfam01429    pfam00628    pfam15612    pfam15613   
Domain families : Smart (EMBL)AT_hook (SM00384)  BROMO (SM00297)  DDT (SM00571)  MBD (SM00391)  PHD (SM00249)  
Conserved Domain (NCBI)BAZ2A
PDB (RSDB)4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
PDB Europe4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
PDB (PDBSum)4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
PDB (IMB)4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
Structural Biology KnowledgeBase4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
SCOP (Structural Classification of Proteins)4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
CATH (Classification of proteins structures)4LZ2    4Q6F    4QBM    4QF2    5AGQ    5MGJ    5MGK    5MGL    5MGM    5OR8    5T8R    6FAP    6FG6    6FGF    6FGG    6FGH    6FGI    6FGL    6FGV    6FGW    6FHU    6FI0    6FKP   
SuperfamilyQ9UIF9
AlphaFold pdb e-kbQ9UIF9   
Human Protein Atlas [tissue]ENSG00000076108-BAZ2A [tissue]
HPRD10417
Protein Interaction databases
DIP (DOE-UCLA)Q9UIF9
IntAct (EBI)Q9UIF9
BioGRIDBAZ2A
STRING (EMBL)BAZ2A
ZODIACBAZ2A
Ontologies - Pathways
QuickGOQ9UIF9
Ontology : AmiGOrDNA heterochromatin assembly  RNA polymerase I core promoter sequence-specific DNA binding  RNA polymerase I preinitiation complex assembly  RNA binding  protein binding  chromatin silencing complex  nucleolus  cytosol  DNA methylation  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  histone deacetylation  nuclear speck  nuclear receptor binding  rDNA heterochromatin  rDNA heterochromatin  histone binding  metal ion binding  lysine-acetylated histone binding  
Ontology : EGO-EBIrDNA heterochromatin assembly  RNA polymerase I core promoter sequence-specific DNA binding  RNA polymerase I preinitiation complex assembly  RNA binding  protein binding  chromatin silencing complex  nucleolus  cytosol  DNA methylation  chromatin remodeling  transcription, DNA-templated  regulation of transcription, DNA-templated  histone deacetylation  nuclear speck  nuclear receptor binding  rDNA heterochromatin  rDNA heterochromatin  histone binding  metal ion binding  lysine-acetylated histone binding  
NDEx NetworkBAZ2A
Atlas of Cancer Signalling NetworkBAZ2A
Wikipedia pathwaysBAZ2A
Orthology - Evolution
OrthoDB11176
GeneTree (enSembl)ENSG00000076108
Phylogenetic Trees/Animal Genes : TreeFamBAZ2A
Homologs : HomoloGeneBAZ2A
Homology/Alignments : Family Browser (UCSC)BAZ2A
Gene fusions - Rearrangements
Fusion : MitelmanBAZ2A/ACVR1B [12q13.3/12q13.13]  
Fusion : MitelmanBAZ2A/BIN2 [12q13.3/12q13.13]  
Fusion : MitelmanBAZ2A/PRIM1 [12q13.3/12q13.3]  
Fusion : MitelmanETV6/BAZ2A [12p13.2/12q13.3]  
Fusion : QuiverBAZ2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBAZ2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BAZ2A
dbVarBAZ2A
ClinVarBAZ2A
MonarchBAZ2A
1000_GenomesBAZ2A 
Exome Variant ServerBAZ2A
GNOMAD BrowserENSG00000076108
Varsome BrowserBAZ2A
ACMGBAZ2A variants
VarityQ9UIF9
Genomic Variants (DGV)BAZ2A [DGVbeta]
DECIPHERBAZ2A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBAZ2A 
Mutations
ICGC Data PortalBAZ2A 
TCGA Data PortalBAZ2A 
Broad Tumor PortalBAZ2A
OASIS PortalBAZ2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBAZ2A  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBAZ2A
Mutations and Diseases : HGMDBAZ2A
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBAZ2A
DgiDB (Drug Gene Interaction Database)BAZ2A
DoCM (Curated mutations)BAZ2A
CIViC (Clinical Interpretations of Variants in Cancer)BAZ2A
Cancer3DBAZ2A
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605682   
Orphanet
DisGeNETBAZ2A
MedgenBAZ2A
Genetic Testing Registry BAZ2A
NextProtQ9UIF9 [Medical]
GENETestsBAZ2A
Target ValidationBAZ2A
Huge Navigator BAZ2A [HugePedia]
ClinGenBAZ2A
Clinical trials, drugs, therapy
MyCancerGenomeBAZ2A
Protein Interactions : CTDBAZ2A
Pharm GKB GenePA25272
PharosQ9UIF9
Clinical trialBAZ2A
Miscellaneous
canSAR (ICR)BAZ2A
HarmonizomeBAZ2A
DataMed IndexBAZ2A
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBAZ2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:00:57 CEST 2021

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