This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden... See more...

Aliases for BAZ2B Gene

Aliases for BAZ2B Gene

  • Bromodomain Adjacent To Zinc Finger Domain 2B 2 3 5
  • Bromodomain Adjacent To Zinc Finger Domain Protein 2B 3 4
  • KIAA1476 4
  • HWALp4 4
  • WALp4 3

External Ids for BAZ2B Gene

Previous GeneCards Identifiers for BAZ2B Gene

  • GC02M158107
  • GC02M158704
  • GC02M160139
  • GC02M160378
  • GC02M160000
  • GC02M159883
  • GC02M152059

Summaries for BAZ2B Gene

Entrez Gene Summary for BAZ2B Gene

  • This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]

GeneCards Summary for BAZ2B Gene

BAZ2B (Bromodomain Adjacent To Zinc Finger Domain 2B) is a Protein Coding gene. Diseases associated with BAZ2B include Sexual Sadism and Gastrointestinal Tularemia. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is BAZ2A.

UniProtKB/Swiss-Prot Summary for BAZ2B Gene

Additional gene information for BAZ2B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BAZ2B Gene

Genomics for BAZ2B Gene

GeneHancer (GH) Regulatory Elements for BAZ2B Gene

Promoters and enhancers for BAZ2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BAZ2B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BAZ2B

Top Transcription factor binding sites by QIAGEN in the BAZ2B gene promoter:
  • aMEF-2
  • AREB6
  • FOXL1
  • HSF1 (long)
  • HSF1short
  • MEF-2A
  • Nkx2-2
  • POU2F1
  • POU2F1a

Genomic Locations for BAZ2B Gene

Genomic Locations for BAZ2B Gene
chr2:159,315,312-159,712,439
(GRCh38/hg38)
Size:
397,128 bases
Orientation:
Minus strand
chr2:160,175,490-160,473,203
(GRCh37/hg19)
Size:
297,714 bases
Orientation:
Minus strand

Genomic View for BAZ2B Gene

Genes around BAZ2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BAZ2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BAZ2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BAZ2B Gene

Proteins for BAZ2B Gene

  • Protein details for BAZ2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIF8-BAZ2B_HUMAN
    Recommended name:
    Bromodomain adjacent to zinc finger domain protein 2B
    Protein Accession:
    Q9UIF8
    Secondary Accessions:
    • D3DPA8
    • Q96EA1
    • Q96SQ8
    • Q9P252
    • Q9Y4N8

    Protein attributes for BAZ2B Gene

    Size:
    2168 amino acids
    Molecular mass:
    240459 Da
    Quaternary structure:
    • Interacts with acetylated lysine residues on histone H1.4, H2A, H2B, H3 and H4 (in vitro).
    SequenceCaution:
    • Sequence=AAH12576.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH12576.1; Type=Miscellaneous discrepancy; Note=contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA96000.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55231.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BAZ2B Gene

    Alternative splice isoforms for BAZ2B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BAZ2B Gene

Post-translational modifications for BAZ2B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BAZ2B Gene

Domains & Families for BAZ2B Gene

Gene Families for BAZ2B Gene

Protein Domains for BAZ2B Gene

Blocks:
  • Zn-finger-like, PHD finger
  • Bromodomain signature
  • Methyl-CpG binding
  • DDT domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BAZ2B Gene

GenScript: Design optimal peptide antigens:
  • hWALp4 (BAZ2B_HUMAN)
  • BAZ2B protein (Q3B7K5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UIF8

UniProtKB/Swiss-Prot:

BAZ2B_HUMAN :
  • Belongs to the WAL family.
Family:
  • Belongs to the WAL family.
genes like me logo Genes that share domains with BAZ2B: view

Function for BAZ2B Gene

Molecular function for BAZ2B Gene

UniProtKB/Swiss-Prot Function:
May play a role in transcriptional regulation interacting with ISWI.

Phenotypes From GWAS Catalog for BAZ2B Gene

Gene Ontology (GO) - Molecular Function for BAZ2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI,IEA 10662543
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with BAZ2B: view
genes like me logo Genes that share phenotypes with BAZ2B: view

Clone Products

  • Addgene plasmids for BAZ2B

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BAZ2B Gene

Localization for BAZ2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for BAZ2B Gene

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 BAZ2B gene
Compartment Confidence
nucleus 5
cytosol 3
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BAZ2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with BAZ2B: view

Pathways & Interactions for BAZ2B Gene

PathCards logo

SuperPathways for BAZ2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAZ2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006338 chromatin remodeling TAS 28801535
GO:0006357 regulation of transcription by RNA polymerase II NAS 10662543
genes like me logo Genes that share ontologies with BAZ2B: view

No data available for Pathways by source and SIGNOR curated interactions for BAZ2B Gene

Drugs & Compounds for BAZ2B Gene

(1) Drugs for BAZ2B 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 BAZ2B Gene

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

Drug Products

Transcripts for BAZ2B Gene

mRNA/cDNA for BAZ2B Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for BAZ2B

Alternative Splicing Database (ASD) splice patterns (SP) for BAZ2B Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

ExUns: 26b ^ 27a · 27b ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for BAZ2B Gene

GeneLoc Exon Structure for
BAZ2B

Expression for BAZ2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for BAZ2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BAZ2B Gene

This gene is overexpressed in Adipocyte (28.0), Frontal cortex (12.6), and Plasma (11.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for BAZ2B Gene



Protein tissue co-expression partners for BAZ2B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BAZ2B

SOURCE GeneReport for Unigene cluster for BAZ2B Gene:

Hs.470369

mRNA Expression by UniProt/SwissProt for BAZ2B Gene:

Q9UIF8-BAZ2B_HUMAN
Tissue specificity: Expressed at varying levels in several tissues, whereas a smaller transcript was expressed specifically in testis.

Evidence on tissue expression from TISSUES for BAZ2B Gene

  • Nervous system(4.4)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with BAZ2B: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BAZ2B Gene

Orthologs for BAZ2B Gene

This gene was present in the common ancestor of animals.

Orthologs for BAZ2B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BAZ2B 31 30
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BAZ2B 31 30
  • 94.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAZ2B 31 30
  • 93.86 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ2B 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAZ2B 31
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baz2b 30
  • 85 (n)
mouse
(Mus musculus)
Mammalia Baz2b 17 31 30
  • 84.49 (n)
chicken
(Gallus gallus)
Aves BAZ2B 31 30
  • 78.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAZ2B 31
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz2b 30
  • 71.49 (n)
Str.12647 30
zebrafish
(Danio rerio)
Actinopterygii baz2ba 31 30
  • 59.26 (n)
OneToMany
CABZ01028287.1 31
  • 52 (a)
OneToMany
BAZ2B (1 of 3) 31
  • 38 (a)
OneToMany
Dr.28164 30
fruit fly
(Drosophila melanogaster)
Insecta tou 31 32
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flt-1 31
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToMany
Species where no ortholog for BAZ2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 BAZ2B Gene

ENSEMBL:
Gene Tree for BAZ2B (if available)
TreeFam:
Gene Tree for BAZ2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for BAZ2B: view image

Paralogs for BAZ2B Gene

Paralogs for BAZ2B Gene

(3) SIMAP similar genes for BAZ2B Gene using alignment to 9 proteins:

  • BAZ2B_HUMAN
  • C9JCA6_HUMAN
  • F6VJC3_HUMAN
  • H7BXK5_HUMAN
  • H7C092_HUMAN
  • H7C1I6_HUMAN
  • L8EAN3_HUMAN
  • Q3B7K5_HUMAN
  • Q53TG3_HUMAN
genes like me logo Genes that share paralogs with BAZ2B: view

Variants for BAZ2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BAZ2B Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
715906 Likely Benign: not provided 159,324,918(-) T/C SYNONYMOUS_VARIANT
718271 Benign: not provided 159,350,063(-) C/T MISSENSE_VARIANT
727944 Likely Benign: not provided 159,349,942(-) G/A SYNONYMOUS_VARIANT
730664 Likely Benign: not provided 159,430,932(-) A/C MISSENSE_VARIANT
764984 Likely Benign: not provided 159,438,579(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for BAZ2B Gene

Structural Variations from Database of Genomic Variants (DGV) for BAZ2B Gene

Variant ID Type Subtype PubMed ID
esv1568454 CNV deletion 17803354
esv2445750 CNV deletion 19546169
esv2530003 CNV deletion 19546169
esv2674258 CNV deletion 23128226
esv3325646 CNV insertion 20981092
esv3388272 CNV insertion 20981092
esv3560433 CNV deletion 23714750
esv3593112 CNV loss 21293372
esv3593114 CNV loss 21293372
esv3593117 CNV loss 21293372
esv3593119 CNV loss 21293372
esv3593120 CNV loss 21293372
nsv1003926 CNV loss 25217958
nsv1008665 CNV gain 25217958
nsv1010774 CNV gain 25217958
nsv2994 CNV deletion 18451855
nsv2995 CNV insertion 18451855
nsv459918 CNV loss 19166990
nsv470497 CNV loss 18288195
nsv473025 CNV novel sequence insertion 20440878
nsv475333 CNV novel sequence insertion 20440878
nsv507042 OTHER sequence alteration 20534489
nsv583496 CNV loss 21841781
nsv955272 CNV duplication 24416366
nsv955273 CNV duplication 24416366
nsv961903 CNV duplication 23825009
nsv979139 CNV duplication 23825009

Variation tolerance for BAZ2B Gene

Residual Variation Intolerance Score: 5.18% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.23; 95.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BAZ2B Gene

Human Gene Mutation Database (HGMD)
BAZ2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BAZ2B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BAZ2B Gene

Disorders for BAZ2B Gene

MalaCards: The human disease database

(7) MalaCards diseases for BAZ2B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sexual sadism
  • sadism
gastrointestinal tularemia
  • enteric tularemia
monkeypox
  • monkeypox virus infection
noonan syndrome 1
  • ns1
eastern equine encephalitis
  • eee
- elite association - COSMIC cancer census association via MalaCards
Search BAZ2B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BAZ2B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BAZ2B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BAZ2B Gene

Publications for BAZ2B Gene

  1. A novel family of bromodomain genes. (PMID: 10662543) Jones MH … Shimane M (Genomics 2000) 2 3 4 54
  2. Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. (PMID: 21738491) Arking DE … Chugh SS (PLoS genetics 2011) 3 41 54
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for BAZ2B Gene

Sources for BAZ2B Gene