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Aliases for SH3BP2 Gene

Aliases for SH3BP2 Gene

  • SH3 Domain Binding Protein 2 2 3 5
  • 3BP-2 3 4
  • 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
  • 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G002792 1.8 FANTOM5 ENCODE dbSUPER 34.7 +7.3 7295 15.2 HDGF PKNOX1 MLX AGO1 ZFP64 ARID4B SIN3A DMAP1 ZBTB7B YY1 SH3BP2 NOP14-AS1 TNIP2 NELFA ADD1 GRK4 CFAP99 ZFYVE28 HTT
GH04G002790 1.6 FANTOM5 ENCODE dbSUPER 16.6 -1.6 -1646 1.4 HDGF ATF1 PKNOX1 ARID4B DMAP1 ZBTB7B ZNF143 ZNF207 FOS ZNF263 SH3BP2 RNF4 CFAP99 GC04M002793 GC04M002792 PIR37134
GH04G003044 1.6 FANTOM5 Ensembl ENCODE 15.6 +253.9 253875 4.4 PKNOX1 ATF1 WRNIP1 ARID4B ZNF2 ZNF48 ZNF143 FOS JUNB REST SH3BP2 HTT-AS GRK4 HGFAC RGS12 TNIP2 GC04P003047 GC04P003058
GH04G002809 1.6 FANTOM5 ENCODE dbSUPER 13.2 +19.7 19745 6.4 HDGF SIN3A ARID4B ZNF2 ZNF48 GLIS2 GATA2 ZNF143 ZNF207 KLF7 SH3BP2 NOP14-AS1 RNF4 GRK4 ADD1
GH04G002785 1.5 Ensembl ENCODE dbSUPER 9.8 -5.6 -5597 4.3 HDGF PKNOX1 SIN3A ARID4B YBX1 ZNF121 ELK1 ZNF143 MXD4 JUNB SH3BP2 NOP14-AS1 GRK4 PIR37134 GC04M002793 GC04M002792
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000164998 377 801 HDGF PKNOX1 ARID4B DMAP1 ZBTB7B ZNF143 FOS SP5 MXD4 PPARG

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

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

  • Abcam antibodies for SH3BP2
  • Cloud-Clone Corp. Antibodies for SH3BP2

No data available for DME Specific Peptides for SH3BP2 Gene

Domains & Families for SH3BP2 Gene

Protein Domains for SH3BP2 Gene

Suggested Antigen Peptide Sequences for SH3BP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for SH3BP2 Gene

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:0001784 phosphotyrosine binding IPI 20624904
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

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

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SH3BP2 gene
Compartment Confidence
nucleus 3
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

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

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:

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for SH3BP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of SH3BP2 Gene:

SH3BP2

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.

Evidence on tissue expression from TISSUES for SH3BP2 Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Blood(2.2)
  • Bone(2)
  • Bone marrow(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SH3BP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
General:
  • peripheral nervous system
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia LOC750514 34
  • 98.82 (n)
SH3BP2 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SH3BP2 34 35
  • 85.58 (n)
dog
(Canis familiaris)
Mammalia SH3BP2 34 35
  • 82.91 (n)
mouse
(Mus musculus)
Mammalia Sh3bp2 34 16 35
  • 82.49 (n)
rat
(Rattus norvegicus)
Mammalia Sh3bp2 34
  • 82.47 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 75 (a)
OneToMany
-- 35
  • 68 (a)
OneToMany
-- 35
  • 47 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia SH3BP2 35
  • 68 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH3BP2 34 35
  • 63.61 (n)
lizard
(Anolis carolinensis)
Reptilia SH3BP2 35
  • 52 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii sh3bp2 35
  • 48 (a)
OneToOne
Species where no ortholog for SH3BP2 was found in the sources mined by GeneCards:
  • 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
rs121909146 Pathogenic, Cherubism (CRBM) [MIM:118400], Cherubism (CRBM) [MIM:118400], Cherubism (CRBM) [MIM:118400] 2,831,582(+) ACCCC(A/C/G/T)CGATG reference, missense
rs121909149 Pathogenic, Cherubism (CRBM) [MIM:118400], Cherubism (CRBM) [MIM:118400] 2,831,573(+) CAGGC(A/C/G)ATCAC reference, missense
rs28938170 Pathogenic, Cherubism (CRBM) [MIM:118400] 2,831,587(+) CCGAT(A/C/G)GGCAG reference, missense
rs28938171 Pathogenic, Cherubism (CRBM) [MIM:118400] 2,831,588(+) CGATG(A/G)GCAGA reference, missense
rs757336022 Pathogenic 2,831,581(+) CACCC(A/C/G/T)CCGAT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv2711n106 CNV deletion 24896259
dgv915e199 CNV deletion 23128226
esv2726835 CNV deletion 23290073
esv2726858 CNV deletion 23290073
esv2726859 CNV deletion 23290073
esv2726860 CNV deletion 23290073
esv2726861 CNV deletion 23290073
esv2726863 CNV deletion 23290073
esv3379869 CNV duplication 20981092
esv3440097 CNV duplication 20981092
esv3563263 CNV deletion 23714750
nsv1073291 CNV deletion 25765185
nsv1139203 CNV deletion 24896259
nsv461162 CNV loss 19166990
nsv470002 CNV loss 18288195
nsv516797 CNV loss 19592680
nsv593435 CNV loss 21841781
nsv593436 CNV loss 21841781
nsv949758 CNV deletion 24416366
nsv949759 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH3BP2

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

Disorders for SH3BP2 Gene

MalaCards: The human disease database

(2) 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
- 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 22 64
  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 22 64
  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 22 64
  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 64
  5. 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 22 64

Products for SH3BP2 Gene

Sources for SH3BP2 Gene

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