SH3BP2

Protein identityUniProt · HPA

UniProt accession

P78314

Gene

SH3BP2

Ensembl

ENSG00000087266

Chromosome

4

Canonical length

561 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins

Subcellular location

Golgi apparatus

OverviewNCBI 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 kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

561 residues, UniProt reviewed canonical sequence.

>P78314|SH3BP2
     1  MAAEEMHWPV PMKAIGAQNL LTMPGGVAKA GYLHKKGGTQ LQLLKWPLRF VIIHKRCVYY
    61  FKSSTSASPQ GAFSLSGYNR VMRAAEETTS NNVFPFKIIH ISKKHRTWFF SASSEEERKS
   121  WMALLRREIG HFHEKKDLPL DTSDSSSDTD SFYGAVERPV DISLSPYPTD NEDYEHDDED
   181  DSYLEPDSPE PGRLEDALMH PPAYPPPPVP TPRKPAFSDM PRAHSFTSKG PGPLLPPPPP
   241  KHGLPDVGLA AEDSKRDPLC PRRAEPCPRV PATPRRMSDP PLSTMPTAPG LRKPPCFRES
   301  ASPSPEPWTP GHGACSTSSA AIMATATSRN CDKLKSFHLS PRGPPTSEPP PVPANKPKFL
   361  KIAEEDPPRE AAMPGLFVPP VAPRPPALKL PVPEAMARPA VLPRPEKPQL PHLQRSPPDG
   421  QSFRSFSFEK PRQPSQADTG GDDSDEDYEK VPLPNSVFVN TTESCEVERL FKATSPRGEP
   481  QDGLYCIRNS STKSGKVLVV WDETSNKVRN YRIFEKDSKF YLEGEVLFVS VGSMVEHYHT
   541  HVLPSHQSLL LRHPYGYTGP R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SH3BP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.53

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SH3BP2.

Disease | AllUniProt

Conditions SH3BP2 is implicated in, by any mechanism.

• Cherubism (CRBM) MIM:118400

Disease | GeneticClinVar

10 pathogenic / likely-pathogenic of 882 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Fibrous dysplasia of jaw
• SH3BP2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.14

gnomAD pLI

0

gnomAD missense Z

0.29

DepMap mean gene effect

-0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• signal transduction

Molecular functions

• phosphotyrosine residue binding
• SH3 domain binding

Protein domainsUniProt · Pfam · InterPro

• SH2 domain
• Pleckstrin homology domain
• PH-like domain superfamily
• SH2 domain superfamily
• SH2 domain
• PH domain
• SH3BP2, SH2 domain
• SH3 domain-binding protein 2

KeywordsUniProt

• Phosphoprotein
• SH2 domain
• SH3-binding

InteractionsUniProt · HPA

Protein binding partners of SH3BP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DBNL
• SH3KBP1
• TNKS2
• VAV1