• Gene id: 10019

Gene Summary

• Gene Symbol: SH2B3   Gene   UCSC   Ensembl
• Aliases: IDDM20, LNK
• Gene name: SH2B adaptor protein 3
• Alternate names: SH2B adapter protein 3, lymphocyte-specific adapter protein Lnk, signal transduction protein Lnk,
• Gene location: 12q24.12 (111405106: 111451622)     Exons: 12     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical ro
• OMIM: 605093

Protein Summary

• Protein general information: Q9UQQ2  
  • Name: SH2B adapter protein 3 (Lymphocyte adapter protein) (Lymphocyte specific adapter protein Lnk) (Signal transduction protein Lnk)
  • Length: 575  
  • Mass: 63225
  • Tissue specificity: Preferentially expressed by lymphoid cell lines.
• Sequence:

  MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRAELVSLQFTDLFQRYF
  CREVRDGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARSSEELAPPRPPGPCSFQHFRRSLRHIFRRRS
  AGELPAAHTAAAPGTPGEAAETPARPGLAKKFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALR
  RAPGPDGPDRVLELFDPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMA
  ELSECTGRGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLSCYPWFHGPISRVKAA
  QLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTERGQCRVQHLHFPSVVDMLHHFQRSPIPLEC
  GAACDVRLSSYVVVVSQPPGSCNTVLFPFSLPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQI
  FHLVPSPEELANSLQHLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL

• Structural information:
  • Protein Domains: (194..30-)
    (/note="PH-)
    (364..46-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191"-)
  • Interpro: IPR011993  IPR001849  IPR015012  IPR036290  IPR000980   IPR036860  IPR030523  IPR030522  IPR035059  
  • Prosite: PS50001
  • CDD: cd10412
  • STRING: ENSP00000345492
• Other Databases: GeneCards:  SH2B3  Malacards:  SH2B3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0038163	thrombopoietin-mediated signaling pathway	IDA	biological process negative effect
GO:0008285	negative regulation of cell population proliferation	ISS	biological process
GO:1990869	cellular response to chemokine	ISS	biological process negative effect
GO:0038163	thrombopoietin-mediated signaling pathway	ISS	biological process
GO:0038163	thrombopoietin-mediated signaling pathway	TAS	biological process negative effect
GO:0036016	cellular response to interleukin-3	ISS	biological process
GO:0042532	negative regulation of tyrosine phosphorylation of STAT protein	ISS	biological process
GO:0035855	megakaryocyte development	ISS	biological process
GO:0043407	negative regulation of MAP kinase activity	ISS	biological process
GO:0070100	negative regulation of chemokine-mediated signaling pathway	ISS	biological process
GO:0046426	negative regulation of receptor signaling pathway via JAK-STAT	IMP	biological process
GO:0048821	erythrocyte development	IMP	biological process
GO:0060761	negative regulation of response to cytokine stimulus	IMP	biological process
GO:0051898	negative regulation of protein kinase B signaling	ISS	biological process
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0035591	signaling adaptor activity	IEA	molecular function
GO:0030097	hemopoiesis	IEA	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0038163	thrombopoietin-mediated signaling pathway	IEA	biological process
GO:0035702	monocyte homeostasis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0001780	neutrophil homeostasis	IEA	biological process
GO:1990869	cellular response to chemokine	IEA	biological process
GO:1990782	protein tyrosine kinase binding	IEA	molecular function
GO:1900235	negative regulation of Kit signaling pathway	IEA	biological process
GO:0090331	negative regulation of platelet aggregation	IEA	biological process
GO:0070100	negative regulation of chemokine-mediated signaling pathway	IEA	biological process
GO:0051898	negative regulation of protein kinase B signaling	IEA	biological process
GO:0043407	negative regulation of MAP kinase activity	IEA	biological process
GO:0042532	negative regulation of tyrosine phosphorylation of STAT protein	IEA	biological process
GO:0036016	cellular response to interleukin-3	IEA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0005173	stem cell factor receptor binding	IEA	molecular function
GO:0030159	signaling receptor complex adaptor activity	ISS	molecular function
GO:0005173	stem cell factor receptor binding	ISS	molecular function
GO:1990782	protein tyrosine kinase binding	ISS	molecular function
GO:0001780	neutrophil homeostasis	ISS	biological process
GO:0035702	monocyte homeostasis	ISS	biological process
GO:0090331	negative regulation of platelet aggregation	ISS	biological process
GO:0035162	embryonic hemopoiesis	ISS	biological process negative effect
GO:1900235	negative regulation of Kit signaling pathway	ISS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04722	Neurotrophin signaling pathway

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Type 1 diabetes mellitus	KEGG:H00408
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881