Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6452
Gene name Gene Name - the full gene name approved by the HGNC.
SH3 domain binding protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SH3BP2
Synonyms (NCBI Gene) Gene synonyms aliases
3BP-2, 3BP2, CRBM, CRPM, RES4-23
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRBM
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
Summary Summary of gene provided in NCBI Entrez 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 kinas
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
PARP1 Unknown 22820184
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
GO:0007165 Process Signal transduction IEA
GO:0017124 Function SH3 domain binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602104 10825 ENSG00000087266
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587
View all (32 more)
29669173
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039
View all (4 more)
24076602
Oligodontia Oligodontia rs1591901585
Optic atrophy Optic Atrophy rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299
View all (37 more)
Unknown
Disease term Disease name Evidence References Source
Huntington disease Huntington Disease 22387017 ClinVar
Multiple Sclerosis Multiple Sclerosis GWAS
Associations from Text Mining
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