Gene Gene information from NCBI Gene database.
Entrez ID 6452
Gene name SH3 domain binding protein 2
Gene symbol SH3BP2
Synonyms (NCBI Gene)
3BP-23BP2CRBMCRPMRES4-23
Chromosome 4
Chromosome location 4p16.3
Summary 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 kinas
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs28938170 G>A,C Pathogenic Missense variant, coding sequence variant
rs28938171 G>A Pathogenic Missense variant, coding sequence variant
rs121909146 C>A,G,T Pathogenic Missense variant, coding sequence variant
rs121909149 G>A,C Pathogenic Missense variant, coding sequence variant
rs141518457 G>A Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
995
miRTarBase ID miRNA Experiments Reference
MIRT048121 hsa-miR-197-3p CLASH 23622248
MIRT043409 hsa-miR-331-3p CLASH 23622248
MIRT036634 hsa-miR-939-5p CLASH 23622248
MIRT674981 hsa-miR-5582-5p HITS-CLIP 23824327
MIRT674980 hsa-miR-4269 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PARP1 Unknown 22820184
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0001784 Function Phosphotyrosine residue binding IPI 20624904
GO:0005515 Function Protein binding IPI 11390470, 15345594, 17306257, 22153076, 22153077, 24728074, 32296183
GO:0007165 Process Signal transduction IEA
GO:0007165 Process Signal transduction TAS 9299232
GO:0017124 Function SH3 domain binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602104 10825 ENSG00000087266
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P78314
Protein name SH3 domain-binding protein 2 (3BP-2)
Protein 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.
PDB 2CR4 , 3TWR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 27 130 PH domain Domain
PF00017 SH2 458 538 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:9734812}.
Sequence
MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYY
FKSSTSASPQGAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEEERKS
WMALLRREIG
HFHEKKDLPLDTSDSSSDTDSFYGAVERPVDISLSPYPTDNEDYEHDDED
DSYLEPDSPEPGRLEDALMHPPAYPPPPVPTPRKPAFSDMPRAHSFTSKGPGPLLPPPPP
KHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDPPLSTMPTAPGLRKPPCFRES
ASPSPEPWTPGHGACSTSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPPPVPANKPKFL
KIAEEDPPREAAMPGLFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDG
QSFRSFSFEKPRQPSQADTGGDDSDEDYEKVPLPNSVFVNTTESCEVERLFKATSPRGEP
QDGLYCIRNSSTKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGEVLFVSVGSMVEHY
HT
HVLPSHQSLLLRHPYGYTGPR
Sequence length 561
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Natural killer cell mediated cytotoxicity  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
788
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Fibrous dysplasia of jaw Likely pathogenic; Pathogenic rs28938171, rs121909146, rs121909149, rs28938170, rs757336022 RCV002052435
RCV000007983
RCV000007984
RCV000007985
RCV000007986
RCV000007987
RCV000007988
RCV001261155
RCV002523913
RCV001070686
SH3BP2-related disorder Pathogenic; Likely pathogenic rs28938170, rs757336022 RCV004730939
RCV004731087
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs28516876, rs147432096, rs202005559, rs45525837 RCV005892619
RCV005897805
RCV005897823
RCV005897810
Cervical cancer Benign; Uncertain significance rs45525837, rs758216830 RCV005897812
RCV005910970
Cholangiocarcinoma Benign rs28516876 RCV005892628
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign rs28516876, rs45525837 RCV005892629
RCV005897821
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cherubism Associate 17147794, 18596838, 19352411, 24382142, 25093864, 25178340, 25491283, 27427211, 28721660, 30236129, 30880133, 33470282
Dentofacial Deformities Associate 27427211
Down Syndrome Associate 21124956
Edema Associate 25178340
Facial Neoplasms Associate 24382142
Gastrointestinal Stromal Tumors Associate 36241703
Huntington Disease Associate 9734812
Hyperparathyroidism Associate 27427211
Inflammation Associate 25810396
Leukemia Mast Cell Associate 36834926