GediPNet logo

SH3BP2 (SH3 domain binding protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6452
Gene nameGene Name - the full gene name approved by the HGNC.
SH3 domain binding protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SH3BP2
SynonymsGene synonyms aliases
3BP-2, 3BP2, CRBM, CRPM, RES4-23
ChromosomeChromosome number
4
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p16.3
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYY
FKSSTSASPQGAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEEERKS
WMALLRREIG
HFHEKKDLPLDTSDSSSDTDSFYGAVERPVDISLSPYPTDNEDYEHDDED
DSYLEPDSPEPGRLEDALMHPPAYPPPPVPTPRKPAFSDMPRAHSFTSKGPGPLLPPPPP
KHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDPPLSTMPTAPGLRKPPCFRES
ASPSPEPWTPGHGACSTSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPPPVPANKPKFL
KIAEEDPPREAAMPGLFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDG
QSFRSFSFEKPRQPSQADTGGDDSDEDYEKVPLPNSVFVNTTESCEVERLFKATSPRGEP
QDGLYCIRNSSTKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGEVLFVSVGSMVEHY
HT
HVLPSHQSLLLRHPYGYTGPR
Sequence length 561
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
  Natural killer cell mediated cytotoxicity  
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autoinflammatory disease Autoinflammatory disorder rs777759523, rs121434352, rs28940578, rs28940580, rs121908146, rs121908148, rs121908150, rs80338807, rs121908679, rs104895319, rs104894176, rs28933973, rs28933376, rs137854447, rs61736587, rs148755083, rs104895093, rs104895311, rs104895364, rs104895352, rs104895271, rs104895238, rs151344629, rs180177431, rs376785840, rs587777241, rs77563738, rs202134424, rs864321625, rs864321682, rs864321626, rs864321684, rs864321685, rs869312838, rs869312953, rs766657895, rs140148806, rs753966933, rs764196809, rs200956636, rs147035858, rs1274685768, rs1600700389, rs1776278098, rs754904956, rs1760720617, rs1760720924 29669173
Multiple sclerosis Multiple Sclerosis rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 24076602
Oligodontia Oligodontia rs1591901585
Optic atrophy Optic Atrophy rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Unknown
Disease name Disease term dbSNP ID References
Atrophy Linear atrophy
Cervical lymphadenopathy Cervical lymphadenopathy
Cherubism Cherubism 12900899, 11381256, 29669173, 14577811
Huntington disease Huntington Disease rs768047421 22387017

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412