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Gene Model: Sh3bp2

NomenclatureGenomic Location
SymbolSh3bp2Chromosome2
NameSH3 domain-binding protein 2Linkage mapunknown
SpeciesDracomimus familiarisGenome Coordinates2: 58 Mbp

Molecular 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.

Molecular Function Terms:

binding
   protein binding
      protein domain specific binding
         SH3 domain binding

Human Disease Association

Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:118400]. CRBM is an autosomal dominant inherited 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.

Predicted Transcript
     1 TGTGAAATGTTTCTTTTAAATTTCAGAACAATGACATCAGAAGAAGAGACATTTTTGTCT
    61 GTTCCAATGAAGGCTATAGGATCGCAGAACCTACTGACAATGCCTGGAGGTGTCACCAAG
   121 TCAGGATACCTGCACAAAAAAGGAGGAACACAGTTCCAACTCTTAAAGTGGCCACTTAGG
   181 TTTGTAATTATCCACAAGGGCTGTGTTTACTACTTCAAGAGTAGTACATCTTCATCTCCT
   241 CAGGGTGCTTTTTCATTGAAGGGTTATAACAGGGTTATGCGGGCAGCAGAAGAGACGACA
   301 TCAAATAATGTATTCCCTTTCAAGTTGGTGCACATTAGCAAGAAACATAGGACCTGGTTT
   361 TTTTCTGCCTCCTCTGAAGATGAAAGAAAGGACTGGATGGCCTCACTTAGAAGGGAAATA
   421 GATCTCTATCATGAAAAGAAAGAAGCAGTTCCTGATTTAAGTGACTCTGGTTCAGATGCT
   481 GACAGTTTCTATGGCTCAGTAGAACGACCTGTTAATATACATTACTCTCAACATTCAATA
   541 GAGAATTCAGATTACGACCAGGATGAAGATGATGATGAATACTTGCAGCCAGATGATTTA
   601 GACTGTGCGAAGTGTGAAGATCAAAAAGTTTTCCCACCAAAATATCCGCCCCCTCCAGTT
   661 CCTCAGATGGAAAGAACTTCCTATTCACATACCAAGGCATCCTCACTTTCTGGCAAGTCC
   721 AGAGTGGCTGTGTTTCCACCACCACCTCTGAAAAACAGCTCGCCTCATGTTAGGCCCTCC
   781 ATTCTTCTTGGCGTGAAAGGAGAATTCCCTTTTAATTACCAAGCAGAGCATAAAAAGGGA
   841 ACCAATTCAACATGCCAGCAAGCAAGTGGCCAGGGACCACCAGTGCCTCCAGTCCATTTG
   901 CCCCCAAAACCTATTTTGTTTACAGAAATCCGCTCTGCACCAGCTGTGTGTCAGCCACAA
   961 ACCAATGTGTTACCTGCTACCAAAGAGTATGAGAAGCTTAAAGAGTTAAAACTTTCTACA
  1021 AAAGCCCCCCCTCCGTTGCCAAGCAGCAAGCCAAAATTATCACAAAATGCGATGCACATA
  1081 CAAGAACCAAGGAAGCCAGATCACCCTGGAATATTGATATCCAAAGTCCTCTCTAACTCA
  1141 CAAGTGTCTCGGGACAAATCATCTGTGCCTGTGTCCAAACCAGAGAAGCCTTTTACTCCA
  1201 CACACTCTCACAAATAACTCGTATTGTAACTTGCCTTCACTAATGAGATCATCTCCAGAT
  1261 GGACAAAGTTTCCGAAACTCTTCATTTGAGAAACCAGTCTCACCTTCAAAATCAAAATTA
  1321 TCTGGAGAAGATTCTGATGATGACTATGAGAAAGTTGAGTTACCAAGTTCTGTATTTGTG
  1381 AATACCTGTGAATCTCTTGAAGTTGAAAGGTTGTTCAAATCTGAAAATTCCACAGGACAT
  1441 CTGAAAGATGGATTATTCTGTATTAGGAATTCCTCTACAAAAACTGGAAAGGTATTAGTT
  1501 GTATGGGATGGATCTATTGAAAAAGTGAGAAACTACAGAATCTTTCAACAGGGCTGTAAG
  1561 TTTTACCTGGAGGCAGATGCTCTGTTTATGAGCCTTGGAAATCTGATTGAACACTACTGC
  1621 AGTCATGTCTTGCCAGGCCACGTCAGTTTGATCCTACGGTTTCCTTATGGTTATTCAGGA
  1681 CCAAGGTGA

Predicted Protein Product
CEMFLLNFRTMTSEEETFLSVPMKAIGSQNLLTMPGGVTKSGYLHKKGGTQFQLLKWPLR
FVIIHKGCVYYFKSSTSSSPQGAFSLKGYNRVMRAAEETTSNNVFPFKLVHISKKHRTWF
FSASSEDERKDWMASLRREIDLYHEKKEAVPDLSDSGSDADSFYGSVERPVNIHYSQHSI
ENSDYDQDEDDDEYLQPDDLDCAKCEDQKVFPPKYPPPPVPQMERTSYSHTKASSLSGKS
RVAVFPPPPLKNSSPHVRPSILLGVKGEFPFNYQAEHKKGTNSTCQQASGQGPPVPPVHL
PPKPILFTEIRSAPAVCQPQTNVLPATKEYEKLKELKLSTKAPPPLPSSKPKLSQNAMHI
QEPRKPDHPGILISKVLSNSQVSRDKSSVPVSKPEKPFTPHTLTNNSYCNLPSLMRSSPD
GQSFRNSSFEKPVSPSKSKLSGEDSDDDYEKVELPSSVFVNTCESLEVERLFKSENSTGH
LKDGLFCIRNSSTKTGKVLVVWDGSIEKVRNYRIFQQGCKFYLEADALFMSLGNLIEHYC
SHVLPGHVSLILRFPYGYSGPR
Protein Alignment to Mouse
tr|Q5U3L0|Q5U3L0_MOUSE SH3-domain binding protein 2, isoform CRA_a OS=Mus
            musculus GN=Sh3bp2 PE=2 SV=1
      MGI:1860485 Plek pleckstrin (Chr 11)
        Length = 559

 Score = 731 (262.4 bits), Expect = 1.4e-128, Sum P(2) = 1.4e-128
 Identities = 148/246 (60%), Positives = 170/246 (69%)

Query:    11 MTSEEETFLSVPMKAIGSQNLLTMPGGVTKSGYLHKKGGTQFQLLKWPLRFVIIHKGCVY 70
             M +EE  +  VPMKAIG+QNLLTMPGGV K+GYLHKKGGTQ QLLKWPLRFVIIHK C+Y
Sbjct:     1 MAAEEMQW-PVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCIY 59

Query:    71 YFKSSTSSSPQGAFSLKGYNRVMRAAEETTSNNVFPFKLVHISKKHRTWFFSASSEDERK 130
             YFKSSTS+SPQGAFSL GYNRVMRAAEETTSNNVFPFK++HISKKHRTWFFSASSEDERK
Sbjct:    60 YFKSSTSASPQGAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEDERK 119

Query:   131 DWMASLRREIDLYHEKKEAVPDLSDSGSDADSFYGSVERPVNIHYSQHSIENSXXXXXXX 190
              WMA LRREI  +HEKKE   D SDS SD DSFYG+VERP++I  S + ++N        
Sbjct:   120 SWMALLRREIGHFHEKKELPLDTSDSSSDTDSFYGAVERPIDISLSSYPMDNEDYEHEDE 179

Query:   191 XXXXXXXXXXXCAKCEDQKVFXXXXXXXXXXQMERTSYSHT-KASSLSGKSRVAVFPPPP 249
                          K ED   +             + ++S   +A S + KS   + PPPP
Sbjct:   180 DDSYLEPDSPGPMKLEDALTYPPAYPPPPVPVPRKPAFSDLPRAHSFTSKSPSPLLPPPP 239

Query:   250 LKNSSP 255
              K   P
Sbjct:   240 PKRGLP 245

 Score = 545 (196.9 bits), Expect = 1.4e-128, Sum P(2) = 1.4e-128
 Identities = 108/176 (61%), Positives = 127/176 (72%)

Query:   390 PVSK---PEKPFTPHTLTNNSYCNLPSLMRSSPDGQSFRNSSFEKPVSPSKSKLSGEDSD 446
             PV K   PE    P  L       LP L RS PDGQSFR  SFEK   PS++    EDSD
Sbjct:   384 PVQKMPMPEATVRPAVLPRPENTPLPHLQRSPPDGQSFRGFSFEKARQPSQADTGEEDSD 443

Query:   447 DDYEKVELPSSVFVNTCESLEVERLFKSENSTGHLKDGLFCIRNSSTKTGKVLVVWDGSI 506
             +DYEKV LP+SVFVNT ES EVERLFK+ +  G  +DGL+CIRNSSTK+GKVLVVWD S 
Sbjct:   444 EDYEKVPLPNSVFVNTTESCEVERLFKATDPRGEPQDGLYCIRNSSTKSGKVLVVWDESS 503

Query:   507 EKVRNYRIFQQGCKFYLEADALFMSLGNLIEHYCSHVLPGHVSLILRFPYGYSGPR 562
              KVRNYRIF++  KFYLE + LF S+G+++EHY +HVLP H SL+LR PYGY+GPR
Sbjct:   504 NKVRNYRIFEKDSKFYLEGEVLFASVGSMVEHYHTHVLPSHQSLLLRHPYGYAGPR 559