• Gene id: 10603

Gene Summary

• Gene Symbol: SH2B2   Gene   UCSC   Ensembl
• Aliases: APS
• Gene name: SH2B adaptor protein 2
• Alternate names: SH2B adapter protein 2, SH2 and PH domain-containing adapter protein APS, adapter protein with pleckstrin homology and Src homology 2 domains,
• Gene location: 7q22.1 (102284524: 102321710)     Exons: 11     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is expressed in B lymphocytes and contains pleckstrin homology and src homology 2 (SH2) domains. In Burkitt's lymphoma cell lines, it is tyrosine-phosphorylated in response to B cell receptor stimulation. Because it binds
• OMIM: 605360

Protein Summary

• Protein general information: O14492  
  • Name: SH2B adapter protein 2 (Adapter protein with pleckstrin homology and Src homology 2 domains) (SH2 and PH domain containing adapter protein APS)
  • Length: 632  
  • Mass: 67738
  • Tissue specificity: Expressed in spleen, prostate, testis, uterus, small intestine and skeletal muscle. Among hematopoietic cell lines, expressed exclusively in B-cells. Not expressed in most tumor cell lines. {ECO
• Sequence:

  MNGAGPGPAAAAPVPVPVPVPDWRQFCELHAQAAAVDFAHKFCRFLRDNPAYDTPDAGASFSRHFAANFLDVFGE
  EVRRVLVAGPTTRGAAVSAEAMEPELADTSALKAAPYGHSRSSEDVSTHAATKARVRKGFSLRNMSLCVVDGVRD
  MWHRRASPEPDAAAAPRTAEPRDKWTRRLRLSRTLAAKVELVDIQREGALRFMVADDAAAGSGGSAQWQKCRLLL
  RRAVAEERFRLEFFVPPKASRPKVSIPLSAIIEVRTTMPLEMPEKDNTFVLKVENGAEYILETIDSLQKHSWVAD
  IQGCVDPGDSEEDTELSCTRGGCLASRVASCSCELLTDAVDLPRPPETTAVGAVVTAPHSRGRDAVRESLIHVPL
  ETFLQTLESPGGSGSDSNNTGEQGAETDPEAEPELELSDYPWFHGTLSRVKAAQLVLAGGPRNHGLFVIRQSETR
  PGEYVLTFNFQGKAKHLRLSLNGHGQCHVQHLWFQSVLDMLRHFHTHPIPLESGGSADITLRSYVRAQDPPPEPG
  PTPPAAPASPACWSDSPGQHYFSSLAAAACPPASPSDAAGASSSSASSSSAASGPAPPRPVEGQLSARSRSNSAE
  RLLEAVAATAAEEPPEAAPGRARAVENQYSFY

• Structural information:
  • Protein Domains: (193..30-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145,-ECO:0000305)
    (417..51-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191,-ECO:0000305")
  • Interpro: IPR011993  IPR001849  IPR015012  IPR036290  IPR000980   IPR036860  IPR030523  IPR030520  IPR035058  
  • Prosite: PS50003 PS50001
  • CDD: cd10411
  • PDB: 1Q2H
  • PDBsum: 1Q2H
  • STRING: ENSP00000440273
• Other Databases: GeneCards:  SH2B2  Malacards:  SH2B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050851	antigen receptor-mediated signaling pathway	IBA	biological process
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	IBA	molecular function
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0035591	signaling adaptor activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007596	blood coagulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008286	insulin receptor signaling pathway	ISS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0050853	B cell receptor signaling pathway	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0035591	signaling adaptor activity	IDA	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0042169	SH2 domain binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04910	Insulin signaling pathway
hsa04722	Neurotrophin signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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