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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
  • 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 Cannabis Abuse and Scarlet Fever. Gene Ontology (GO) annotations related to this gene include binding. An important paralog of this gene is BAZ2A.

UniProtKB/Swiss-Prot for BAZ2B Gene

  • May play a role in transcriptional regulation interacting with ISWI.

Additional gene information for BAZ2B Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BAZ2B Gene

Genomics for BAZ2B Gene

GeneHancer (GH) Regulatory Elements for BAZ2B Gene

Promoters and enhancers for BAZ2B 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
GH02J159710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 706 -0.6 -562 5 CLOCK ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 BAZ2B ENSG00000226266 MARCH7 LOC643072 LY75 CD302 WDSUB1 PLA2R1 GC02P159769
GH02J159612 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 669.7 +97.2 97192 6.2 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B BAZ2B LOC643072 MARCH7 PLA2R1 TANC1 LY75 ENSG00000226266 ENSG00000207117
GH02J159285 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 22.4 +425.8 425843 2.3 HDGF CLOCK SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 WDSUB1 BAZ2B PLA2R1 MARCH7 CD302 LY75 LOC105373716
GH02J159515 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +196.2 196234 2 FOXA2 MLX SIN3A YY1 E2F8 ATF7 RXRA YY2 REST ZNF518A BAZ2B MARCH7 CD302 LY75 ENSG00000207117 LOC100422294 ENSG00000225369
GH02J160039 Enhancer 1 Ensembl ENCODE 27.3 -327.3 -327290 0.6 PKNOX1 INSM2 MZF1 FEZF1 ZNF2 ZNF213 ZNF366 ZSCAN5C SCRT2 KLF7 BAZ2B PLA2R1 LY75 ENSG00000226266 LOC105373717
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BAZ2B on UCSC Golden Path with GeneCards custom track

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

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; Positions=927; 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

  • Ubiquitination at Lys1538
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for BAZ2B Gene

Domains & Families for BAZ2B Gene

Suggested Antigen Peptide Sequences for BAZ2B Gene

GenScript: Design optimal peptide antigens:

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 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

Animal Model Products

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 2

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

SuperPathways for BAZ2B Gene

No Data Available

Gene Ontology (GO) - Biological Process for BAZ2B Gene

GO ID Qualified GO term Evidence PubMed IDs
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 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

Unigene Clusters for BAZ2B Gene

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

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
ECgene alternative splicing isoforms for
BAZ2B

Expression for BAZ2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of BAZ2B Gene:

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 34 33
  • 99.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BAZ2B 34 33
  • 94.86 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BAZ2B 34 33
  • 93.86 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BAZ2B 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BAZ2B 34
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Baz2b 33
  • 85 (n)
mouse
(Mus musculus)
Mammalia Baz2b 16 34 33
  • 84.49 (n)
chicken
(Gallus gallus)
Aves BAZ2B 34 33
  • 78.71 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BAZ2B 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia baz2b 33
  • 71.49 (n)
Str.12647 33
zebrafish
(Danio rerio)
Actinopterygii baz2ba 34 33
  • 59.26 (n)
OneToMany
CABZ01028287.1 34
  • 52 (a)
OneToMany
BAZ2B (1 of 3) 34
  • 38 (a)
OneToMany
Dr.28164 33
fruit fly
(Drosophila melanogaster)
Insecta tou 34 35
  • 18 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea flt-1 34
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 from dbSNP and Humsavar for BAZ2B Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs767318278 uncertain-significance, not specified 159,453,705(-) G/A/C coding_sequence_variant, genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant, stop_gained
rs1000004404 -- 159,611,121(-) T/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000011627 -- 159,657,460(-) G/A genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000035808 -- 159,700,018(-) G/A genic_upstream_transcript_variant, intron_variant
rs1000044826 -- 159,470,747(-) A/T genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant

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

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

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

(2) MalaCards diseases for BAZ2B Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
cannabis abuse
  • marijuana abuse
scarlet fever
  • scarlatina
- 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 58
  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 44 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. 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 58

Products for BAZ2B Gene

  • Addgene plasmids for BAZ2B

Sources for BAZ2B Gene

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