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Aliases for SH3BP2 Gene

Aliases for SH3BP2 Gene

  • SH3-Domain Binding Protein 2 2 3
  • 3BP-2 3 4
  • CRPM 3 6
  • 3BP2 3 4
  • TNFAIP3 Interacting Protein 2 3
  • SH3 Domain-Binding Protein 2 3
  • Abl-SH3 Binding Protein 2 3
  • Cherubism 2
  • RES4-23 3
  • CRBM 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 B Cell Receptor Signaling Pathway (WikiPathways) and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include phospholipid 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SH3BP2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

No data available for DME Specific Peptides for SH3BP2 Gene

Domains for SH3BP2 Gene

Gene Families for SH3BP2 Gene

HGNC:
  • PLEKH :Pleckstrin homology (PH) domain containing
  • SH2D :SH2 domain containing

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 :
  • P78314
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:0005070 SH3/SH2 adaptor activity TAS 9299232
GO:0005515 protein binding IPI 11390470
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

Animal Models for SH3BP2 Gene

MGI Knock Outs for SH3BP2:

Animal Model Products

CRISPR Products

miRNA for SH3BP2 Gene

miRTarBase miRNAs that target SH3BP2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 3
cytosol 2
cytoskeleton 1
extracellular 1

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

Pathways 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

Gene Ontology (GO) - Biological Process for SH3BP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 9299232
GO:0009967 positive regulation of signal transduction TAS 9299232
genes like me logo Genes that share ontologies with SH3BP2: view

Transcripts for SH3BP2 Gene

Unigene Clusters for SH3BP2 Gene

SH3-domain binding protein 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SH3BP2

Primer Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for SH3BP2 Gene

This gene is overexpressed in Whole Blood (8.9).

Integrated Proteomics: protein expression 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 expressions with SH3BP2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia LOC750514 35
  • 98.82 (n)
  • 98.73 (a)
SH3BP2 36
  • 92 (a)
OneToOne
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
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
rat
(Rattus norvegicus)
Mammalia Sh3bp2 35
  • 82.47 (n)
  • 85.03 (a)
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 MAF
rs10924 -- 2,836,746(+) CCCTG(C/T)GTTGC utr-variant-3-prime
rs170763 -- 2,835,997(+) TGCTG(A/T)GCTAG utr-variant-3-prime
rs172998 -- 2,798,802(-) AGAGG(A/T)CTCAG intron-variant, upstream-variant-2KB
rs179585 -- 2,818,660(-) CCCGA(A/G)GGAGC intron-variant, upstream-variant-2KB
rs182820 -- 2,793,227(-) CAGAC(A/C)GCCAA intron-variant

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

Relevant External Links for SH3BP2 Gene

HapMap Linkage Disequilibrium report
SH3BP2
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

MalaCards: The human disease database. (2) Diseases for SH3BP2 Gene including...

Search for SH3BP2 Gene in MalaCards »

(1) OMIM Diseases for SH3BP2 Gene (602104)

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.

(2) University of Copenhagen DISEASES for SH3BP2 Gene

(3) Novoseek inferred disease relationships for SH3BP2 Gene

Disease -log(P) Hits PubMed IDs
cherubism 97.9 36
central giant cell granuloma 81.2 2
granuloma giant cell 77.4 1

Relevant External Links for SH3BP2

GeneTests
SH3BP2
GeneReviews
SH3BP2
Genetic Association Database (GAD)
SH3BP2
Human Genome Epidemiology (HuGE) Navigator
SH3BP2
genes like me logo Genes that share disorders with SH3BP2: view

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
  2. Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. (PMID: 12900899) Lo B. … Teebi A.S. (Am. J. Med. Genet. A 2003) 3 4 23
  3. A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. (PMID: 14577811) Imai Y. … Yamada A. (Cleft Palate Craniofac. J. 2003) 3 4 23
  4. Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. (PMID: 9299232) Bell S.M. … Knowles M.A. (Genomics 1997) 2 3 4
  5. The primary structure and genomic organization of five novel transcripts located close to the Huntington's disease gene on human chromosome 4p16.3. (PMID: 9734812) Hadano S. … Ikeda J.-E. (DNA Res. 1998) 3 4

Products for SH3BP2 Gene

Sources for SH3BP2 Gene

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