SH3BP2
entrez
6452
canonical
uniprot
P78314
canonical
ensembl
ENSG00000087266
resolver
ensp
ENSP00000403231
resolver
ensp
ENSP00000422168
resolver
ensp
ENSP00000424846
resolver
genesymbol
SH3BP2
resolver
genesymbol_syn
3BP2
resolver
hgnc
HGNC:10825
resolver
uniprot
A0A384N6E5
resolver
uniprot
A6NNC2
resolver
uniprot
B2R5R6
resolver
uniprot
B4DT04
resolver
uniprot
D3DVR0
resolver
uniprot
D6R919
resolver
uniprot
O00500
resolver
uniprot
O15373
resolver
uniprot
P78315
resolver
uniprot_entry
3BP2_HUMAN
resolver
uniprot_entry
A0A384N6E5_HUMAN
resolver
uniprot_sec
A6NNC2
resolver
uniprot_sec
B2R5R6
resolver
uniprot_sec
B4DT04
resolver
uniprot_sec
D3DVR0
resolver
uniprot_sec
D6R919
resolver
uniprot_sec
O00500
resolver
uniprot_sec
O15373
resolver
uniprot_sec
P78315
resolver
amino_acid_sequence
MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYYFKSSTSASPQGAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEEERKSWMALLRREIGHFHEKKDLPLDTSDSSSDTDSFYGAVERPVDISLSPYPTDNEDYEHDDEDDSYLEPDSPEPGRLEDALMHPPAYPPPPVPTPRKPAFSDMPRAHSFTSKGPGPLLPPPPPKHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDPPLSTMPTAPGLRKPPCFRESASPSPEPWTPGHGACSTSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPPPVPANKPKFLKIAEEDPPREAAMPGLFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDGQSFRSFSFEKPRQPSQADTGGDDSDEDYEKVPLPNSVFVNTTESCEVERLFKATSPRGEPQDGLYCIRNSSTKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGEVLFVSVGSMVEHYHTHVLPSHQSLLLRHPYGYTGPR
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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.
uniprot
proteins
mass_dalton
62244
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity). {ECO:0000250}.
uniprot
proteins
pubmed
11381256
uniprot
proteins
pubmed
12900899
uniprot
proteins
pubmed
14577811
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14759258
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
9299232
uniprot
proteins
pubmed
9734812
uniprot
proteins
sequence_length
561
uniprot
proteins