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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Fibrous dysplasia of jaw Likely pathogenic; Pathogenic rs28938171, rs121909146, rs121909149, rs28938170, rs757336022 RCV002052435
RCV000007983
RCV000007984
RCV000007985
RCV000007986
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SH3BP2-related disorder Pathogenic; Likely pathogenic rs28938170, rs757336022 RCV004730939
RCV004731087
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 25470448, 31052273
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 31052273
★☆☆☆☆
Found in Text Mining only
Autoinflammatory disorder Autoinflammatory Disease GENOMICS_ENGLAND_DG 29669173
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 9299232
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 24916406, 25705883
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 9299232
★☆☆☆☆
Found in Text Mining only
Cervical lymphadenopathy Cervical lymphadenopathy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Cherubism Cherubism BEFREE 11381256, 12900899, 14577811, 15507112, 15694152, 16713042, 16786512, 17120035, 17147794, 17368082, 17544554, 17545756, 17762617, 19017279, 20002873
View all (16 more)
★☆☆☆☆
Found in Text Mining only
Cherubism Cherubism UNIPROT_DG 11381256, 12900899, 14577811
★☆☆☆☆
Found in Text Mining only
Cherubism Cherubism GENOMICS_ENGLAND_DG 11381256, 29669173
★☆☆☆☆
Found in Text Mining only