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Baz1b Gene Detail
Summary
  • Symbol
    Baz1b
  • Name
    bromodomain adjacent to zinc finger domain, 1B
  • Synonyms
    Wbscr9, WSTF
  • Feature Type
    protein coding gene
  • IDs
    MGI:1353499
    NCBI Gene: 22385
  • Gene Overview
    MyGene.info: BAZ1B
Location & Maps
more
  • Sequence Map
    Chr5:135187264-135246129 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      58866 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    BAZ1B, bromodomain adjacent to zinc finger domain 1B
  • Vertebrate Orthologs
    10
  • Human Ortholog
    BAZ1B, bromodomain adjacent to zinc finger domain 1B
    Orthology source: HGNC, HomoloGene
  • Synonyms
    WBSCR10, WBSCR9, WSTF
  • Links
    NCBI Gene ID: 9031
    neXtProt AC: NX_Q9UIG0

  • Chr Location
    7q11.23; chr7:73440398-73522298 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 22651
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: BAZ1B
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Baz1b mouse models

Human Disease Mouse Models
       Williams-Beuren Syndrome; WBS   OMIM: 194050 View 4 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    42 phenotypes from 3 alleles in 3 genetic backgrounds
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    31
  • Chemically induced (ENU)
    2
  • Gene trapped
    23
  • Targeted
    6
  • Genomic Mutations
    2 involving Baz1b
  • Incidental Mutations
Mice homozygous for a null allele exhibit postnatal lethality by P2, small size at birth, impaired double strand DNA repair, and heart defects. Mice heterozygous for a null allele exhibit hypercalcemia and heart defects. Mice homozygous for an ENU mutation exhibit craniofacial and skeletal defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017117 VEGA Gene Model | MGI Sequence Detail 58866 C57BL/6J ±  kb
transcript OTTMUST00000041455 VEGA | MGI Sequence Detail 6492 Not Applicable  
polypeptide OTTMUSP00000018605 VEGA | MGI Sequence Detail 1479 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    136 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 147
    Genomic 5
    cDNA 139
    Primer pair 3

    Microarray probesets 8
Other
Accession IDs
less
MGI:1329032, MGI:2141344
References
more
  • Summaries
    All 58
    Developmental Gene Expression 12
    Diseases 5
    Gene Ontology 7
    Phenotypes 18
  • Earliest
    J:51602 Peoples RJ, et al., Identification of the WBSCR9 gene, encoding a novel transcriptional regulator, in the Williams-Beuren syndrome deletion at 7q11.23. Cytogenet Cell Genet. 1998;82(3-4):238-46
  • Latest
    J:223996 Broering TJ, et al., BAZ1B is dispensable for H2AX phosphorylation on Tyrosine 142 during spermatogenesis. Biol Open. 2015;4(7):873-84

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory