• Gene id: 117157

Gene Summary

• Gene Symbol: SH2D1B   Gene   UCSC   Ensembl
• Aliases: EAT2
• Gene name: SH2 domain containing 1B
• Alternate names: SH2 domain-containing protein 1B, EAT-2, EWS/FLI1-activated transcript 2, SH2 domain-containing molecule EAT2,
• Gene location: 1q23.3 (162412135: 162395267)     Exons: 4     NC_000001.11
• Gene summary(Entrez): By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar
• OMIM: 608510

Protein Summary

• Protein general information: O14796  
  • Name: SH2 domain containing protein 1B (EWS/FLI1 activated transcript 2) (EAT 2)
  • Length: 132  
  • Mass: 15297
• Sequence:

  MDLPYYHGRLTKQDCETLLLKEGVDGNFLLRDSESIPGVLCLCVSFKNIVYTYRIFREKHGYYRIQTAEGSPKQV
  FPSLKELISKFEKPNQGMVVHLLKPIKRTSPSLRWRGLKLELETFVNSNSDYVDVLP

• Structural information:
  • Protein Domains: (5..10-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR035049  IPR000980  IPR036860  
  • Prosite: PS50001
  • CDD: cd10342
  • PDB: 5KAZ
  • PDBsum: 5KAZ
  • STRING: ENSP00000356906
• Other Databases: GeneCards:  SH2D1B  Malacards:  SH2D1B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0050776	regulation of immune response	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: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: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:0030674	protein-macromolecule adaptor activity	TAS	molecular function
GO:0002717	positive regulation of natural killer cell mediated immunity	ISS	biological process
GO:0045089	positive regulation of innate immune response	ISS	biological process
GO:0002366	leukocyte activation involved in immune response	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04650	Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray