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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
  • Alliance
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
    3 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, HGNC
  • Synonyms
    3BP2, 3BP-2, CRBM, CRPM, RES4-23
  • Links
    NCBI Gene ID: 6452
    neXtProt AC: NX_P78314
    UniProt: P78314

  • Chr Location
    4p16.3; chr4:2793023-2841096 (+)  GRCh38.p7

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

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 6 alleles in 7 genetic backgrounds
    12 phenotypes from multigenic genotypes
    44 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.
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
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 68
      Developmental Gene Expression 1
      Diseases 3
      Gene Ontology 5
      Phenotypes 44
    • Earliest
      J:5021 Batchelor AL, et al., A comparison of the mutagenic effectiveness of chronic neutron- and gamma-irradiation of mouse spermatogonia. Mutat Res. 1966 Jun;3(3):218-29
    • Latest
      J:243612 Matsumoto Y, et al., RANKL coordinates multiple osteoclastogenic pathways by regulating expression of ubiquitin ligase RNF146. J Clin Invest. 2017 Apr 03;127(4):1303-1315

    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
    05/15/2018
    MGI 6.12
    The Jackson Laboratory