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Aliases for BAZ2A Gene

Aliases for BAZ2A Gene

  • Bromodomain Adjacent To Zinc Finger Domain 2A 2 3 5
  • Transcription Termination Factor I-Interacting Protein 5 3 4
  • TTF-I Interacting Peptide 5 2 3
  • TTF-I-Interacting Protein 5 3 4
  • TIP5 3 4
  • Bromodomain Adjacent To Zinc Finger Domain Protein 2A 3
  • KIAA0314 4
  • HWALp3 4
  • WALp3 3

External Ids for BAZ2A Gene

Previous GeneCards Identifiers for BAZ2A Gene

  • GC12M056954
  • GC12M057214
  • GC12M056707
  • GC12M055275
  • GC12M054028

Summaries for BAZ2A Gene

GeneCards Summary for BAZ2A Gene

BAZ2A (Bromodomain Adjacent To Zinc Finger Domain 2A) is a Protein Coding gene. Among its related pathways are Gene Expression and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include RNA binding and lysine-acetylated histone binding. An important paralog of this gene is BAZ2B.

UniProtKB/Swiss-Prot for BAZ2A Gene

  • Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on Lys-16 (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity).

Gene Wiki entry for BAZ2A Gene

Additional gene information for BAZ2A Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAZ2A Gene

Genomics for BAZ2A Gene

GeneHancer (GH) Regulatory Elements for BAZ2A Gene

Promoters and enhancers for BAZ2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12I056631 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 569.1 +1.9 1897 6.9 MLX ZFP64 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC BAZ2A IKZF4 ENSG00000257740 SMARCC2 SLC26A10 ANKRD52 ENSG00000224713 DTX3 ARHGEF25 PAN2
GH12I056628 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 558.8 +7.1 7135 3 HDGF FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 DMAP1 IRF4 YY1 BAZ2A RBMS2 RNU6-343P ANKRD52 IKZF4 PTGES3 NEMP1 ENSG00000257740 SMARCC2 R3HDM2
GH12I057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 138.4 -474.4 -474438 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 ANKRD52 CDK4 CTDSP2
GH12I056220 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 137.6 +413.9 413934 5.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 NABP2 RNF41 NEMP1 BAZ2A PAN2 DNAJC14 ANKRD52 PHC1P1 ZBTB39 RN7SL809P
GH12I055715 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 97.8 +918.1 918144 7.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 RDH5 BLOC1S1 PIR49113 PIR46127 BAZ2A DNAJC14 RN7SL809P TMEM198B PAN2 CDK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BAZ2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BAZ2A gene promoter:

Genomic Locations for BAZ2A Gene

Genomic Locations for BAZ2A Gene
chr12:56,595,596-56,636,816
(GRCh38/hg38)
Size:
41,221 bases
Orientation:
Minus strand
chr12:56,989,380-57,030,600
(GRCh37/hg19)

Genomic View for BAZ2A Gene

Genes around BAZ2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAZ2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAZ2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAZ2A Gene

Proteins for BAZ2A Gene

  • Protein details for BAZ2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIF9-BAZ2A_HUMAN
    Recommended name:
    Bromodomain adjacent to zinc finger domain protein 2A
    Protein Accession:
    Q9UIF9
    Secondary Accessions:
    • B3KN66
    • O00536
    • O15030
    • Q68DI8
    • Q96H26

    Protein attributes for BAZ2A Gene

    Size:
    1905 amino acids
    Molecular mass:
    211198 Da
    Quaternary structure:
    • Component of the NoRC complex, at least composed of SMARCA5/SNF2H and BAZ2A/TIP5. Interacts with TTF1; required for recruitment of the NoRC complex to rDNA. Interacts with DNMT1, DNM3B, HDAC1 and SIN3A (By similarity). Interacts with BEND3 and USP21.
    SequenceCaution:
    • Sequence=AAB60864.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAG51228.1; Type=Erroneous termination; Positions=168; Note=Translated as Tyr.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAZ2A Gene

    Alternative splice isoforms for BAZ2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ2A Gene

Post-translational modifications for BAZ2A Gene

  • Acetylation at Lys-680 by KAT8/MOF promotes its dissociation from pRNA, affecting heterochromatin formation, nucleosome positioning and rDNA silencing. Deacetylation by SIRT1 in late S phase enhances pRNA-binding, allowing de novo DNA methylation and heterochromatin formation. Acetylation is high during S phase and declines to background levels in late S phase when the silent copies of rRNA genes are replicated (By similarity).
  • Ubiquitinated. Deubiquitinated by USP21 leading to its stabilization.
  • Ubiquitination at Lys1676
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BAZ2A Gene

Domains & Families for BAZ2A Gene

Gene Families for BAZ2A Gene

Suggested Antigen Peptide Sequences for BAZ2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UIF9

UniProtKB/Swiss-Prot:

BAZ2A_HUMAN :
  • The bromo domain and the PHD-type zinc finger recognize and bind histone H4 acetylated on Lys-16 (H4K16ac). These 2 domains play a central role in the recruitment of chromatin silencing proteins such as DNMT1, DNMT3B and HDAC1.
  • Belongs to the WAL family.
Domain:
  • The bromo domain and the PHD-type zinc finger recognize and bind histone H4 acetylated on Lys-16 (H4K16ac). These 2 domains play a central role in the recruitment of chromatin silencing proteins such as DNMT1, DNMT3B and HDAC1.
  • The MBD (methyl-CpG-binding) domain, also named TAM domain, specifically recognizes and binds a conserved stem-loop structure the association within pRNA. Binding to pRNA induces a conformational change of BAZ2A/TIP5 and is essential for targeting the NoRC complex to the nucleolus (By similarity).
Family:
  • Belongs to the WAL family.
genes like me logo Genes that share domains with BAZ2A: view

Function for BAZ2A Gene

Molecular function for BAZ2A Gene

GENATLAS Biochemistry:
bromodomain adjacent to zinc finger domain,2A,expressed in brain,>100kDa,related to p300/CBP associated factor P (CAF)
UniProtKB/Swiss-Prot Function:
Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on Lys-16 (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity).

Phenotypes From GWAS Catalog for BAZ2A Gene

Gene Ontology (GO) - Molecular Function for BAZ2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001164 RNA polymerase I CORE element sequence-specific DNA binding IDA 22368283
GO:0003677 DNA binding IEA --
GO:0003723 RNA binding ISS --
GO:0005515 protein binding IPI 11532953
GO:0016922 ligand-dependent nuclear receptor binding NAS 10662543
genes like me logo Genes that share ontologies with BAZ2A: view
genes like me logo Genes that share phenotypes with BAZ2A: view

miRNA for BAZ2A Gene

miRTarBase miRNAs that target BAZ2A

Clone Products

  • Addgene plasmids for BAZ2A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BAZ2A Gene

Localization for BAZ2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAZ2A Gene

Nucleus, nucleolus. Note=Colocalizes with the basal RNA polymerase I transcription factor UBF in the nucleolus. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BAZ2A gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAZ2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005677 chromatin silencing complex ISS --
GO:0005730 nucleolus ISS --
GO:0005829 cytosol IDA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with BAZ2A: view

Pathways & Interactions for BAZ2A Gene

genes like me logo Genes that share pathways with BAZ2A: view

Gene Ontology (GO) - Biological Process for BAZ2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000183 chromatin silencing at rDNA ISS --
GO:0006306 DNA methylation ISS --
GO:0006338 chromatin remodeling NAS 11532953
GO:0006351 transcription, DNA-templated NAS 10662543
GO:0006355 regulation of transcription, DNA-templated NAS 10662543
genes like me logo Genes that share ontologies with BAZ2A: view

No data available for SIGNOR curated interactions for BAZ2A Gene

Drugs & Compounds for BAZ2A Gene

(1) Drugs for BAZ2A Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GSK2801 Pharma inhibitor of BAZ2A and BAZ2B bromodomains 0

(1) ApexBio Compounds for BAZ2A Gene

Compound Action Cas Number
GSK2801 inhibitor of BAZ2A and BAZ2B bromodomains 1619994-68-1
genes like me logo Genes that share compounds with BAZ2A: view

Drug Products

Transcripts for BAZ2A Gene

Unigene Clusters for BAZ2A Gene

Bromodomain adjacent to zinc finger domain, 2A:
Representative Sequences:

Clone Products

  • Addgene plasmids for BAZ2A

Alternative Splicing Database (ASD) splice patterns (SP) for BAZ2A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14a · 14b ^ 15a · 15b ^
SP1: - - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b · 20c ^ 21a · 21b ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b · 24c ^ 25a · 25b ^ 26a · 26b · 26c ^ 27a · 27b ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5: - - - -
SP6: - -
SP7: -
SP8: -
SP9: -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 28a · 28b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

Relevant External Links for BAZ2A Gene

GeneLoc Exon Structure for
BAZ2A
ECgene alternative splicing isoforms for
BAZ2A

Expression for BAZ2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BAZ2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BAZ2A Gene

This gene is overexpressed in Nasal epithelium (39.7) and Kidney (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BAZ2A Gene



NURSA nuclear receptor signaling pathways regulating expression of BAZ2A Gene:

BAZ2A

SOURCE GeneReport for Unigene cluster for BAZ2A Gene:

Hs.314263

mRNA Expression by UniProt/SwissProt for BAZ2A Gene:

Q9UIF9-BAZ2A_HUMAN
Tissue specificity: Expressed at moderate levels in most tissues analyzed, including heart, brain, placenta, lung, skeletal muscle, kidney and pancreas.

Evidence on tissue expression from TISSUES for BAZ2A Gene

  • Lung(4.6)
  • Nervous system(4.6)
  • Liver(4.3)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with BAZ2A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAZ2A Gene

Orthologs for BAZ2A Gene

This gene was present in the common ancestor of animals.

Orthologs for BAZ2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAZ2A 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia BAZ2A 33 34
  • 90.97 (n)
cow
(Bos Taurus)
Mammalia BAZ2A 33 34
  • 90.84 (n)
mouse
(Mus musculus)
Mammalia Baz2a 33 16 34
  • 85.73 (n)
rat
(Rattus norvegicus)
Mammalia Baz2a 33
  • 84.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ2A 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves BAZ2A 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAZ2A 34
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz2a 33
  • 56.29 (n)
Str.1531 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398712 33
zebrafish
(Danio rerio)
Actinopterygii baz2a 34
  • 49 (a)
OneToOne
Dr.19658 33
fruit fly
(Drosophila melanogaster)
Insecta tou 34
  • 15 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flt-1 34
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 34 (a)
OneToMany
Species where no ortholog for BAZ2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BAZ2A Gene

ENSEMBL:
Gene Tree for BAZ2A (if available)
TreeFam:
Gene Tree for BAZ2A (if available)

Paralogs for BAZ2A Gene

Paralogs for BAZ2A Gene

(2) SIMAP similar genes for BAZ2A Gene using alignment to 9 proteins:

Pseudogenes.org Pseudogenes for BAZ2A Gene

genes like me logo Genes that share paralogs with BAZ2A: view

Variants for BAZ2A Gene

Sequence variations from dbSNP and Humsavar for BAZ2A Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000014466 -- 56,623,228(-) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000023577 -- 56,633,090(-) C/G genic_upstream_transcript_variant, intron_variant
rs1000189020 -- 56,611,285(-) G/C intron_variant
rs1000264572 -- 56,598,373(-) C/G 3_prime_UTR_variant
rs1000272429 -- 56,613,227(-) A/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BAZ2A Gene

Variant ID Type Subtype PubMed ID
esv3580280 CNV loss 25503493
nsv1043992 CNV gain 25217958
nsv1121717 CNV deletion 24896259
nsv438212 CNV loss 16468122
nsv482992 CNV gain+loss 15286789
nsv525202 CNV loss 19592680
nsv820140 CNV loss 19587683

Variation tolerance for BAZ2A Gene

Residual Variation Intolerance Score: 4.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.85; 58.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAZ2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAZ2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAZ2A Gene

Disorders for BAZ2A Gene

Additional Disease Information for BAZ2A

No disorders were found for BAZ2A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BAZ2A Gene

Publications for BAZ2A Gene

  1. A novel family of bromodomain genes. (PMID: 10662543) Jones MH … Shimane M (Genomics 2000) 2 3 4 58
  2. BEND3 represses rDNA transcription by stabilizing a NoRC component via USP21 deubiquitinase. (PMID: 26100909) Khan A … Prasanth SG (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4 58
  3. New gene functions in megakaryopoiesis and platelet formation. (PMID: 22139419) Gieger C … Soranzo N (Nature 2011) 3 44 58
  4. Reversible acetylation of the chromatin remodelling complex NoRC is required for non-coding RNA-dependent silencing. (PMID: 19578370) Zhou Y … Grummt I (Nature cell biology 2009) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for BAZ2A Gene

  • Addgene plasmids for BAZ2A

Sources for BAZ2A Gene

  • (1)