• Gene id: 6452

Gene Summary

• Gene Symbol: SH3BP2   Gene   UCSC   Ensembl
• Aliases: 3BP-2, 3BP2, CRBM, CRPM, RES4-23
• Gene name: SH3 domain binding protein 2
• Alternate names: SH3 domain-binding protein 2, Abl-SH3 binding protein 2, TNFAIP3 interacting protein 2, epididymis secretory sperm binding protein,
• Gene location: 4p16.3 (2793084: 2841095)     Exons: 18     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 602104

Protein Summary

• Protein general information: P78314  
  • Name: SH3 domain binding protein 2 (3BP 2)
  • Length: 561  
  • Mass: 62244
  • Tissue specificity: Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas. {ECO
• Sequence:

  MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYYFKSSTSASPQGAFSL
  SGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEEERKSWMALLRREIGHFHEKKDLPLDTSDSSSDTD
  SFYGAVERPVDISLSPYPTDNEDYEHDDEDDSYLEPDSPEPGRLEDALMHPPAYPPPPVPTPRKPAFSDMPRAHS
  FTSKGPGPLLPPPPPKHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDPPLSTMPTAPGLRKPPCFRES
  ASPSPEPWTPGHGACSTSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPPPVPANKPKFLKIAEEDPPREAAMPG
  LFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDGQSFRSFSFEKPRQPSQADTGGDDSDEDYEK
  VPLPNSVFVNTTESCEVERLFKATSPRGEPQDGLYCIRNSSTKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGE
  VLFVSVGSMVEHYHTHVLPSHQSLLLRHPYGYTGPR

• Structural information:
  • Protein Domains: (26..13-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (457..55-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR011993  IPR001849  IPR000980  IPR036860  IPR035848   IPR035847  
  • Prosite: PS50003 PS50001
  • CDD: cd10359
  • PDB: 2CR4 3TWR
  • PDBsum: 2CR4 3TWR
  • STRING: ENSP00000422168
• Other Databases: GeneCards:  SH3BP2  Malacards:  SH3BP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001784	phosphotyrosine residue binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04650	Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Cherubism	KEGG:H00497
Cherubism	KEGG:H00497
Cherubism	PMID:11381256
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray