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Sh3bp2 Gene Detail
Summary
  • Symbol
    Sh3bp2
  • Name
    SH3-domain binding protein 2
  • Synonyms
    3BP2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1346349
    NCBI Gene: 24055
Location & Maps
more
  • Sequence Map
    Chr5:34525838-34563641 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      37804 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 17.89 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SH3BP2, SH3 domain binding protein 2
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SH3BP2, SH3 domain binding protein 2
    Orthology source: HomoloGene
  • Synonyms
    3BP2, 3BP-2, CRBM, CRPM, RES4-23
  • Links
    NCBI Gene ID: 6452
    neXtProt AC: NX_P78314

  • Chr Location
    4p16.3; chr4:2793023-2841096 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Sh3bp2 mouse models; 1 with human SH3BP2 associations

Human Disease Mouse Models
       Cherubism   OMIM: 118400 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    65 phenotypes from 5 alleles in 6 genetic backgrounds
    12 phenotypes from multigenic genotypes
    40 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    18
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    6
  • Spontaneous
    1
  • Targeted
    7
  • Genomic Mutations
    10 involving Sh3bp2
  • Incidental Mutations
Nullizygous mutations may lead to higher pre-B cell numbers and impaired B cell receptor signaling or thymus-independent type 2 humoral responses. Homozygosity for a knock-in allele causes premature death, enhanced osteoclast differentiation and TNF production, systemic bone loss and inflammation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 OTTMUSG00000026739 VEGA Gene Model | MGI Sequence Detail 37804 C57BL/6J ±  kb
transcript OTTMUST00000066134 VEGA | MGI Sequence Detail 3034 Not Applicable  
polypeptide OTTMUSP00000033087 VEGA | MGI Sequence Detail 615 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    310 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 33
    cDNA 33

    Microarray probesets 4
References
more
  • Summaries
    All 41
    Developmental Gene Expression 1
    Diseases 4
    Gene Ontology 3
    Phenotypes 40
  • Earliest
    J:57558 Ren R, et al., Identification of a ten-amino acid proline-rich SH3 binding site. Science. 1993 Feb 19;259(5098):1157-61
  • Latest
    J:221901 Prod'Homme V, et al., Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. J Clin Invest. 2015 Apr;125(4):1396-400

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory