Human Gene SH3BP2 (ENST00000503393.8_14) from GENCODE V47lift37
  Description: SH3 domain binding protein 2, transcript variant 1 (from RefSeq NM_003023.4)
Gencode Transcript: ENST00000503393.8_14
Gencode Gene: ENSG00000087266.18_22
Transcript (Including UTRs)
   Position: hg19 chr4:2,794,812-2,842,823 Size: 48,012 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr4:2,822,345-2,835,561 Size: 13,217 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:2,794,812-2,842,823)mRNA (may differ from genome)Protein (561 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: 3BP2_HUMAN
DESCRIPTION: RecName: Full=SH3 domain-binding protein 2; Short=3BP-2;
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.
INTERACTION: Q9H2K2:TNKS2; NbExp=5; IntAct=EBI-727062, EBI-4398527;
TISSUE SPECIFICITY: Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.
PTM: Phosphorylated. Phosphorylation at Tyr-448 may stimulate the activity of the LYN kinase (By similarity).
DISEASE: 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.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH2 domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH3BP2";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SH3BP2
Diseases sorted by gene-association score: cherubism* (1733), giant cell reparative granuloma (37), noonan syndrome 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.04 RPKM in Spleen
Total median expression: 365.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.8058-0.514 Picture PostScript Text
3' UTR -2837.207262-0.391 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000980 - SH2

Pfam Domains:
PF00017 - SH2 domain
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like
55550 - SH2 domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2CR4 - NMR MuPIT 3TWR - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P78314
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001784 phosphotyrosine binding
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding
GO:0017124 SH3 domain binding

Biological Process:
GO:0007165 signal transduction
GO:0009967 positive regulation of signal transduction


-  Descriptions from all associated GenBank mRNAs
  AK225497 - Homo sapiens mRNA for SH3 domain-binding protein 2 variant, clone: JTH09395.
BC022996 - Homo sapiens SH3-domain binding protein 2, mRNA (cDNA clone MGC:29882 IMAGE:5103986), complete cds.
GQ900977 - Homo sapiens clone HEL-T-89 epididymis secretory sperm binding protein mRNA, complete cds.
AK312286 - Homo sapiens cDNA, FLJ92588, highly similar to Homo sapiens SH3-domain binding protein 2 (SH3BP2), mRNA.
AK307106 - Homo sapiens cDNA, FLJ97054.
AK299996 - Homo sapiens cDNA FLJ55522 complete cds, highly similar to SH3 domain-binding protein 2.
AK304752 - Homo sapiens cDNA FLJ54978 complete cds, highly similar to SH3 domain-binding protein 2.
JD025254 - Sequence 6278 from Patent EP1572962.
U56386 - Human SH3 binding protein 3BP2 (3BP2) mRNA, complete cds.
AB000463 - Homo sapiens mRNA, complete cds, clone:RES4-23B.
AB000462 - Homo sapiens mRNA for SH3 binding protein, complete cds, clone:RES4-23A.
AB384918 - Synthetic construct DNA, clone: pF1KB4221, Homo sapiens SH3BP2 gene for SH3 domain-binding protein 2, complete cds, without stop codon, in Flexi system.
AF000936 - Homo sapiens SH3 binding protein 2 mRNA, complete cds.
JD030848 - Sequence 11872 from Patent EP1572962.
AK126537 - Homo sapiens cDNA FLJ44573 fis, clone UTERU3016789, moderately similar to SH3 domain-binding protein 3BP-2.
AK124073 - Homo sapiens cDNA FLJ42079 fis, clone SYNOV2021320, highly similar to SH3 DOMAIN-BINDING PROTEIN 3BP-2.
JD130413 - Sequence 111437 from Patent EP1572962.
JD346210 - Sequence 327234 from Patent EP1572962.
JD115291 - Sequence 96315 from Patent EP1572962.
JD111884 - Sequence 92908 from Patent EP1572962.
JD282453 - Sequence 263477 from Patent EP1572962.
JD439439 - Sequence 420463 from Patent EP1572962.
JD375359 - Sequence 356383 from Patent EP1572962.
JD242165 - Sequence 223189 from Patent EP1572962.
JD114850 - Sequence 95874 from Patent EP1572962.
JD293665 - Sequence 274689 from Patent EP1572962.
JD467284 - Sequence 448308 from Patent EP1572962.
JD130152 - Sequence 111176 from Patent EP1572962.
JD215875 - Sequence 196899 from Patent EP1572962.
JD159344 - Sequence 140368 from Patent EP1572962.
JD159345 - Sequence 140369 from Patent EP1572962.
JD387917 - Sequence 368941 from Patent EP1572962.
JD319758 - Sequence 300782 from Patent EP1572962.
JD120697 - Sequence 101721 from Patent EP1572962.
JD279727 - Sequence 260751 from Patent EP1572962.
JD375468 - Sequence 356492 from Patent EP1572962.
JD054345 - Sequence 35369 from Patent EP1572962.
JD101432 - Sequence 82456 from Patent EP1572962.
JD536643 - Sequence 517667 from Patent EP1572962.
JD459935 - Sequence 440959 from Patent EP1572962.
JD515512 - Sequence 496536 from Patent EP1572962.
JD200765 - Sequence 181789 from Patent EP1572962.
JD337245 - Sequence 318269 from Patent EP1572962.
JD145526 - Sequence 126550 from Patent EP1572962.
JD436909 - Sequence 417933 from Patent EP1572962.
JD044920 - Sequence 25944 from Patent EP1572962.
JD519664 - Sequence 500688 from Patent EP1572962.
JD337245 - Sequence 318269 from Patent EP1572962.
JD145526 - Sequence 126550 from Patent EP1572962.
JD436909 - Sequence 417933 from Patent EP1572962.
JD044920 - Sequence 25944 from Patent EP1572962.
JD217076 - Sequence 198100 from Patent EP1572962.
JD133188 - Sequence 114212 from Patent EP1572962.
JD266976 - Sequence 248000 from Patent EP1572962.
JD181361 - Sequence 162385 from Patent EP1572962.
JD286039 - Sequence 267063 from Patent EP1572962.
JD240394 - Sequence 221418 from Patent EP1572962.
JD173672 - Sequence 154696 from Patent EP1572962.
JD487060 - Sequence 468084 from Patent EP1572962.
JD465979 - Sequence 447003 from Patent EP1572962.
JD485143 - Sequence 466167 from Patent EP1572962.
JD100021 - Sequence 81045 from Patent EP1572962.
JD202742 - Sequence 183766 from Patent EP1572962.
JD045889 - Sequence 26913 from Patent EP1572962.
JD187149 - Sequence 168173 from Patent EP1572962.
JD215209 - Sequence 196233 from Patent EP1572962.
JD189535 - Sequence 170559 from Patent EP1572962.
JD287841 - Sequence 268865 from Patent EP1572962.
JD458123 - Sequence 439147 from Patent EP1572962.
JD424638 - Sequence 405662 from Patent EP1572962.
JD481944 - Sequence 462968 from Patent EP1572962.
JD206102 - Sequence 187126 from Patent EP1572962.
JD566887 - Sequence 547911 from Patent EP1572962.
JD225795 - Sequence 206819 from Patent EP1572962.
JD413176 - Sequence 394200 from Patent EP1572962.
JD161592 - Sequence 142616 from Patent EP1572962.
JD523019 - Sequence 504043 from Patent EP1572962.
JD396744 - Sequence 377768 from Patent EP1572962.
JD267643 - Sequence 248667 from Patent EP1572962.
JD448641 - Sequence 429665 from Patent EP1572962.
JD352788 - Sequence 333812 from Patent EP1572962.
JD525699 - Sequence 506723 from Patent EP1572962.
JD140364 - Sequence 121388 from Patent EP1572962.
JD514118 - Sequence 495142 from Patent EP1572962.
JD070245 - Sequence 51269 from Patent EP1572962.
JD397890 - Sequence 378914 from Patent EP1572962.
JD128180 - Sequence 109204 from Patent EP1572962.
JD441701 - Sequence 422725 from Patent EP1572962.
JD329771 - Sequence 310795 from Patent EP1572962.
JD183141 - Sequence 164165 from Patent EP1572962.
JD333691 - Sequence 314715 from Patent EP1572962.
JD358457 - Sequence 339481 from Patent EP1572962.
JD538688 - Sequence 519712 from Patent EP1572962.
JD058223 - Sequence 39247 from Patent EP1572962.
JD181283 - Sequence 162307 from Patent EP1572962.
JD078195 - Sequence 59219 from Patent EP1572962.
JD224917 - Sequence 205941 from Patent EP1572962.
JD080128 - Sequence 61152 from Patent EP1572962.
JD276257 - Sequence 257281 from Patent EP1572962.
JD261867 - Sequence 242891 from Patent EP1572962.
JD431715 - Sequence 412739 from Patent EP1572962.
JD222456 - Sequence 203480 from Patent EP1572962.
JD494239 - Sequence 475263 from Patent EP1572962.
JD507692 - Sequence 488716 from Patent EP1572962.
JD331611 - Sequence 312635 from Patent EP1572962.
JD216124 - Sequence 197148 from Patent EP1572962.
JD214092 - Sequence 195116 from Patent EP1572962.
JD201211 - Sequence 182235 from Patent EP1572962.
JD413654 - Sequence 394678 from Patent EP1572962.
JD153241 - Sequence 134265 from Patent EP1572962.
JD161551 - Sequence 142575 from Patent EP1572962.
JD227599 - Sequence 208623 from Patent EP1572962.
JD373827 - Sequence 354851 from Patent EP1572962.
JD220927 - Sequence 201951 from Patent EP1572962.
JD246292 - Sequence 227316 from Patent EP1572962.
JD055525 - Sequence 36549 from Patent EP1572962.
JD397485 - Sequence 378509 from Patent EP1572962.
JD280689 - Sequence 261713 from Patent EP1572962.
JD505028 - Sequence 486052 from Patent EP1572962.
JD317743 - Sequence 298767 from Patent EP1572962.
JD243611 - Sequence 224635 from Patent EP1572962.
JD397325 - Sequence 378349 from Patent EP1572962.
JD311981 - Sequence 293005 from Patent EP1572962.
JD346467 - Sequence 327491 from Patent EP1572962.
JD505631 - Sequence 486655 from Patent EP1572962.
JD489495 - Sequence 470519 from Patent EP1572962.
JD554551 - Sequence 535575 from Patent EP1572962.
JD209237 - Sequence 190261 from Patent EP1572962.
JD230841 - Sequence 211865 from Patent EP1572962.
JD205859 - Sequence 186883 from Patent EP1572962.
JD294624 - Sequence 275648 from Patent EP1572962.
JD173058 - Sequence 154082 from Patent EP1572962.
JD453190 - Sequence 434214 from Patent EP1572962.
JD544241 - Sequence 525265 from Patent EP1572962.
JD235762 - Sequence 216786 from Patent EP1572962.
JD097558 - Sequence 78582 from Patent EP1572962.
JD051030 - Sequence 32054 from Patent EP1572962.
JD054701 - Sequence 35725 from Patent EP1572962.
JD137402 - Sequence 118426 from Patent EP1572962.
JD192993 - Sequence 174017 from Patent EP1572962.
JD230186 - Sequence 211210 from Patent EP1572962.
JD436432 - Sequence 417456 from Patent EP1572962.
JD247613 - Sequence 228637 from Patent EP1572962.
JD126417 - Sequence 107441 from Patent EP1572962.
JD107899 - Sequence 88923 from Patent EP1572962.
JD479709 - Sequence 460733 from Patent EP1572962.
JD393236 - Sequence 374260 from Patent EP1572962.
JD393192 - Sequence 374216 from Patent EP1572962.
JD533557 - Sequence 514581 from Patent EP1572962.
JD065295 - Sequence 46319 from Patent EP1572962.
JD039270 - Sequence 20294 from Patent EP1572962.
JD495131 - Sequence 476155 from Patent EP1572962.
JD369996 - Sequence 351020 from Patent EP1572962.
JD311570 - Sequence 292594 from Patent EP1572962.
JD247747 - Sequence 228771 from Patent EP1572962.
JD317121 - Sequence 298145 from Patent EP1572962.
JD104358 - Sequence 85382 from Patent EP1572962.
JD143755 - Sequence 124779 from Patent EP1572962.
JD094444 - Sequence 75468 from Patent EP1572962.
JD565973 - Sequence 546997 from Patent EP1572962.
JD295375 - Sequence 276399 from Patent EP1572962.
JD147523 - Sequence 128547 from Patent EP1572962.
JD509721 - Sequence 490745 from Patent EP1572962.
JD367319 - Sequence 348343 from Patent EP1572962.
JD522129 - Sequence 503153 from Patent EP1572962.
JD140095 - Sequence 121119 from Patent EP1572962.
JD542570 - Sequence 523594 from Patent EP1572962.
JD212440 - Sequence 193464 from Patent EP1572962.
JD197835 - Sequence 178859 from Patent EP1572962.
JD412843 - Sequence 393867 from Patent EP1572962.
JD083191 - Sequence 64215 from Patent EP1572962.
L37198 - Homo sapiens (clone B3B3E13) Huntington's disease candidate region mRNA fragment.

-  Other Names for This Gene
  Alternate Gene Symbols: 3BP2, 3BP2_HUMAN, A6NNC2, B2R5R6, B4DT04, D3DVR0, D6R919, ENST00000503393.1, ENST00000503393.2, ENST00000503393.3, ENST00000503393.4, ENST00000503393.5, ENST00000503393.6, ENST00000503393.7, NM_003023, O00500, O15373, P78314, P78315, RES4-23, uc322xdc.1, uc322xdc.2
UCSC ID: ENST00000503393.8_14
RefSeq Accession: NM_001122681.2
Protein: P78314 (aka 3BP2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SH3BP2:
cherubism (Cherubism)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.