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Aliases for SH3BP2 Gene

Aliases for SH3BP2 Gene

  • SH3 Domain Binding Protein 2 2 3
  • SH3-Domain Binding Protein 2 3 5
  • 3BP-2 3 4
  • 3BP2 3 4
  • TNFAIP3 Interacting Protein 2 3
  • Abl-SH3 Binding Protein 2 3
  • Cherubism 2
  • RES4-23 3
  • CRBM 3
  • CRPM 3

External Ids for SH3BP2 Gene

Previous GeneCards Identifiers for SH3BP2 Gene

  • GC04P002783
  • GC04M9I0057
  • GC04P002826
  • GC04P002851
  • GC04P002831

Summaries for SH3BP2 Gene

Entrez Gene Summary for SH3BP2 Gene

  • The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

GeneCards Summary for SH3BP2 Gene

SH3BP2 (SH3 Domain Binding Protein 2) is a Protein Coding gene. Diseases associated with SH3BP2 include Cherubism and Giant Cell Reparative Granuloma. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and TCR signaling in naive CD4+ T cells. GO annotations related to this gene include SH3 domain binding and SH3/SH2 adaptor activity.

UniProtKB/Swiss-Prot for SH3BP2 Gene

  • Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SH3BP2 Gene

Genomics for SH3BP2 Gene

Regulatory Elements for SH3BP2 Gene

Enhancers for SH3BP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SH3BP2 on UCSC Golden Path with GeneCards custom track

Promoters for SH3BP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SH3BP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SH3BP2 Gene

Chromosome:
4
Start:
2,793,023 bp from pter
End:
2,841,098 bp from pter
Size:
48,076 bases
Orientation:
Plus strand

Genomic View for SH3BP2 Gene

Genes around SH3BP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH3BP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH3BP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH3BP2 Gene

Proteins for SH3BP2 Gene

  • Protein details for SH3BP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P78314-3BP2_HUMAN
    Recommended name:
    SH3 domain-binding protein 2
    Protein Accession:
    P78314
    Secondary Accessions:
    • A6NNC2
    • B2R5R6
    • B4DT04
    • D3DVR0
    • D6R919
    • O00500
    • O15373
    • P78315

    Protein attributes for SH3BP2 Gene

    Size:
    561 amino acids
    Molecular mass:
    62244 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SH3BP2 Gene

    Alternative splice isoforms for SH3BP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH3BP2 Gene

Proteomics data for SH3BP2 Gene at MOPED

Post-translational modifications for SH3BP2 Gene

  • Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for SH3BP2 Gene

Domains & Families for SH3BP2 Gene

Protein Domains for SH3BP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SH3BP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P78314

UniProtKB/Swiss-Prot:

3BP2_HUMAN :
  • Contains 1 PH domain.
Domain:
  • Contains 1 PH domain.
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with SH3BP2: view

Function for SH3BP2 Gene

Molecular function for SH3BP2 Gene

GENATLAS Biochemistry:
Src homology domain 3 (SH3) binding protein BP2,mouse homolog within a common region of deletion in bladder carcinoma
UniProtKB/Swiss-Prot Function:
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.

Gene Ontology (GO) - Molecular Function for SH3BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with SH3BP2: view
genes like me logo Genes that share phenotypes with SH3BP2: view

Human Phenotype Ontology for SH3BP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SH3BP2 Gene

MGI Knock Outs for SH3BP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SH3BP2 Gene

Localization for SH3BP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SH3BP2 Gene COMPARTMENTS Subcellular localization image for SH3BP2 gene
Compartment Confidence
nucleus 4
cytoskeleton 2
cytosol 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SH3BP2 Gene

Pathways & Interactions for SH3BP2 Gene

genes like me logo Genes that share pathways with SH3BP2: view

Pathways by source for SH3BP2 Gene

1 KEGG pathway for SH3BP2 Gene

SIGNOR curated interactions for SH3BP2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for SH3BP2 Gene

None

Drugs & Compounds for SH3BP2 Gene

No Compound Related Data Available

Transcripts for SH3BP2 Gene

Unigene Clusters for SH3BP2 Gene

SH3-domain binding protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SH3BP2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17a · 17b ·
SP1: -
SP2: - - -
SP3: - - - - - - - - - - - - - - - -
SP4:
SP5: - - - - - - - -
SP6: - - - - -
SP7: - - - - - - - - - - - - - - - -
SP8: - - - -
SP9: - - - - - - - - - - - - - - -
SP10:
SP11: - - - - - - - - - - - -
SP12: - - - - - - -
SP13: - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - - - -
SP15:
SP16: - - - - - - - - - -
SP17: - - - - - - - -
SP18: - - - - - - -
SP19: - - - -
SP20: -
SP21:
SP22: - - - - - - - - - - - - - - -
SP23:
SP24:
SP25:

ExUns: 17c · 17d ^ 18 ^ 19a · 19b · 19c · 19d ^ 20a · 20b · 20c ^ 21a · 21b · 21c ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28
SP1: - - - - - -
SP2: - - - - - -
SP3: - - - - - -
SP4: -
SP5: - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - - -
SP9: - - - -
SP10:
SP11: - - - - -
SP12: - - - -
SP13:
SP14:
SP15: - -
SP16: - - - -
SP17:
SP18: - - - - - - - - -
SP19:
SP20:
SP21:
SP22:
SP23: -
SP24: -
SP25:

Relevant External Links for SH3BP2 Gene

GeneLoc Exon Structure for
SH3BP2
ECgene alternative splicing isoforms for
SH3BP2

Expression for SH3BP2 Gene

mRNA expression in normal human tissues for SH3BP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH3BP2 Gene

This gene is overexpressed in Whole Blood (x8.9).

Protein differential expression in normal tissues from HIPED for SH3BP2 Gene

This gene is overexpressed in Pancreatic juice (39.2) and Retina (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SH3BP2 Gene



SOURCE GeneReport for Unigene cluster for SH3BP2 Gene Hs.167679

mRNA Expression by UniProt/SwissProt for SH3BP2 Gene

P78314-3BP2_HUMAN
Tissue specificity: Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.
genes like me logo Genes that share expression patterns with SH3BP2: view

Primer Products

No data available for Protein tissue co-expression partners for SH3BP2 Gene

Orthologs for SH3BP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SH3BP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SH3BP2 35
  • 85.58 (n)
  • 84.92 (a)
SH3BP2 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SH3BP2 35
  • 82.91 (n)
  • 82.62 (a)
SH3BP2 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sh3bp2 35
  • 82.49 (n)
  • 85.2 (a)
Sh3bp2 16
Sh3bp2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC750514 35
  • 98.82 (n)
  • 98.73 (a)
SH3BP2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh3bp2 35
  • 82.47 (n)
  • 85.03 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 47 (a)
OneToMany
-- 36
  • 75 (a)
OneToMany
-- 36
  • 68 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP2 36
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3BP2 35
  • 63.61 (n)
  • 64.23 (a)
SH3BP2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH3BP2 36
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sh3bp2 36
  • 48 (a)
OneToOne
Species with no ortholog for SH3BP2:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SH3BP2 Gene

ENSEMBL:
Gene Tree for SH3BP2 (if available)
TreeFam:
Gene Tree for SH3BP2 (if available)

Paralogs for SH3BP2 Gene

No data available for Paralogs for SH3BP2 Gene

Variants for SH3BP2 Gene

Sequence variations from dbSNP and Humsavar for SH3BP2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_013257 Cherubism (CRBM)
VAR_013258 Cherubism (CRBM)
VAR_013259 Cherubism (CRBM)
VAR_013260 Cherubism (CRBM)
VAR_013261 Cherubism (CRBM)

Structural Variations from Database of Genomic Variants (DGV) for SH3BP2 Gene

Variant ID Type Subtype PubMed ID
esv2726835 CNV Deletion 23290073
nsv878444 CNV Loss 21882294
nsv470002 CNV Loss 18288195
dgv5426n71 CNV Loss 21882294
nsv516797 CNV Loss 19592680
dgv5427n71 CNV Loss 21882294
nsv878451 CNV Loss 21882294
nsv878452 CNV Loss 21882294
nsv461162 CNV Loss 19166990
esv2726858 CNV Deletion 23290073
dgv915e199 CNV Deletion 23128226
esv2726859 CNV Deletion 23290073
esv2726860 CNV Deletion 23290073
esv2726861 CNV Deletion 23290073
esv2726863 CNV Deletion 23290073

Variation tolerance for SH3BP2 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.23; 40.21% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SH3BP2 Gene

Human Gene Mutation Database (HGMD)
SH3BP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH3BP2 Gene

Disorders for SH3BP2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SH3BP2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cherubism
  • crbm
giant cell reparative granuloma
  • central giant cell granuloma
bone giant cell tumor
  • giant cell myeloma
tooth resorption
noonan syndrome 1
  • noonan syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

3BP2_HUMAN
  • Cherubism (CRBM) [MIM:118400]: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. {ECO:0000269 PubMed:11381256, ECO:0000269 PubMed:12900899, ECO:0000269 PubMed:14577811}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SH3BP2

Genetic Association Database (GAD)
SH3BP2
Human Genome Epidemiology (HuGE) Navigator
SH3BP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SH3BP2
genes like me logo Genes that share disorders with SH3BP2: view

No data available for Genatlas for SH3BP2 Gene

Publications for SH3BP2 Gene

  1. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. (PMID: 11381256) Ueki Y. … Reichenberger E. (Nat. Genet. 2001) 2 3 4 23 67
  2. NFATc1 and TNFalpha expression in giant cell lesions of the jaws. (PMID: 20002873) Amaral F.R. … Gomez R.S. (J. Oral Pathol. Med. 2010) 3 23
  3. Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. (PMID: 19017279) Carvalho V.M. … Gomez R.S. (Oral Dis 2009) 3 23
  4. [Gene mutation and expression of SH-3BP-2 in cherubism]. (PMID: 19576004) Li Y.W. … Gao P. (Zhonghua Kou Qiang Yi Xue Za Zhi 2009) 3 23
  5. Tyrosine phosphorylation of 3BP2 regulates B cell receptor-mediated activation of NFAT. (PMID: 19833725) Shukla U. … Sada K. (J. Biol. Chem. 2009) 3 23

Products for SH3BP2 Gene

Sources for SH3BP2 Gene

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