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Sh3bp2
Gene Detail
Symbol

Name
ID
Sh3bp2
SH3-domain binding protein 2
MGI:1346349
Synonyms
3BP2
Feature Type
protein coding gene
Genetic Map
Chromosome 5
17.89 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr5:34525838-34563625 bp, + strand
From VEGA annotation of GRCm38

  37788 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:2276  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

HCOP human homology predictions: SH3BP2
Gene Tree: Sh3bp2

Human
homologs
SH3BP2, SH3-domain binding protein 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 6452
neXtProt AC: NX_P78314

Human Synonyms: 3BP2, 3BP-2, CRBM, CRPM, RES4-23

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

Disease Associations: (1) Diseases Associated with Human SH3BP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(14) : Chemically induced (ENU)(1) Gene trapped(1) Radiation induced(6) Targeted(6)
Genomic Mutations involving Sh3bp2 (7)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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.
 
Human Diseases Modeled in Mice Using Sh3bp2 (1)    Mutations Annotated to Human Diseases (5)    Phenotype Images(4)
Interactions
Sh3bp2 interacts with 183 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (2 annotations)
Function protein binding, SH3 domain binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (83)    Tissues (9)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 83
cDNA source data(33)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sh3bp2    NEW 
Molecular
reagents
All nucleic(33) cDNA(33)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000026739 (Evidence)
Ensembl Gene Model ENSMUSG00000054520 (Evidence)
Entrez Gene 24055 (Evidence)
UniGene 5012
DFCI TC1577452
DoTS DT.101124989, DT.101380835, DT.40185500, DT.97332677
NIA Mouse Gene Index U005489
Consensus CDS Project CCDS19215.1, CCDS51469.1, CCDS51470.1
International Mouse Phenotyping Consortium Status Sh3bp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026739 VEGA Gene Model | MGI Sequence Detail 37788 C57BL/6J ±  kb
transcript OTTMUST00000066134 VEGA | MGI Sequence Detail 3034 Not Applicable 
polypeptide OTTMUSP00000033087 VEGA | MGI Sequence Detail 615 Not Applicable 

For the selected sequences
All sequences(65) RefSeq(11) UniProt(10)
Polymorphisms
SNPs within 2kb(310 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR000980 SH2 domain
Protein Ontology PR:000014819 SH3 domain-binding protein 2
References
(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:218596 Yoshitaka T, et al., Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. Bone. 2015 Feb;71:201-9
All references(42)
Disease annotation references (2)

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
08/18/2015
MGI 6.0
The Jackson Laboratory