Gene Gene information from NCBI Gene database.
Entrez ID 10019
Gene name SH2B adaptor protein 3
Gene symbol SH2B3
Synonyms (NCBI Gene)
IDDM20LNK
Chromosome 12
Chromosome location 12q24.12
Summary 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
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs148636776 G>A Pathogenic Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs202080221 G>A,C,T Uncertain-significance, affects, pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, stop gained
rs587776885 GCGCT>- Pathogenic Coding sequence variant, genic upstream transcript variant, frameshift variant, non coding transcript variant
rs1029296641 C>A,T Likely-pathogenic Genic downstream transcript variant, non coding transcript variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
454
miRTarBase ID miRNA Experiments Reference
MIRT018890 hsa-miR-335-5p Microarray 18185580
MIRT023128 hsa-miR-124-3p Microarray 18668037
MIRT023453 hsa-miR-30b-5p Sequencing 20371350
MIRT024840 hsa-miR-215-5p Microarray 19074876
MIRT026822 hsa-miR-192-5p Microarray 19074876
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
53
GO ID Ontology Definition Evidence Reference
GO:0001780 Process Neutrophil homeostasis IEA
GO:0001780 Process Neutrophil homeostasis ISS 27430239
GO:0002262 Process Myeloid cell homeostasis IEA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IBA
GO:0005173 Function Stem cell factor receptor binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605093 29605 ENSG00000111252
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQQ2
Protein name SH2B adapter protein 3 (Lymphocyte adapter protein) (Lymphocyte-specific adapter protein Lnk) (Signal transduction protein Lnk)
Protein function Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08916 Phe_ZIP 25 80 Phenylalanine zipper Domain
PF00169 PH 202 307 PH domain Domain
PF00017 SH2 364 441 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed by lymphoid cell lines.
Sequence
MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRA
ELVSLQFTDLFQRYFCREVR
DGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARS
SEELAPPRPPGPCSFQHFRRSLRHIFRRRSAGELPAAHTAAAPGTPGEAAETPARPGLAK
KFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALRRAPGPDGPDRVLELF
DPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMA
ELSECTG
RGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLS
CYPWFHGPISRVKAAQLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTE
RGQCRVQHLHFPSVVDMLHHF
QRSPIPLECGAACDVRLSSYVVVVSQPPGSCNTVLFPFS
LPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQIFHLVPSPEELANSLQ
HLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL
Sequence length 575
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neurotrophin signaling pathway   Regulation of KIT signaling
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
39
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cancer-predisposing syndrome Pathogenic rs2500219496 RCV002472256
Primary familial polycythemia due to EPO receptor mutation Pathogenic rs376261237 RCV002250348
Primary myelofibrosis Likely pathogenic; Pathogenic rs751076276, rs587776885 RCV003990125
RCV000023397
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely benign rs548854518 RCV005871419
Familial myelofibrosis Uncertain significance rs1871229237 RCV003120366
Hepatoblastoma Conflicting classifications of pathogenicity rs202080221 RCV001843460
Hereditary cancer Conflicting classifications of pathogenicity rs939947819, rs202080221 RCV003492897
RCV004700273
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenoma Islet Cell Associate 36622793
Amyotrophic Lateral Sclerosis Associate 22916186
Antiphospholipid Syndrome Associate 23844121
Arthritis Juvenile Associate 20647273
Arthritis Rheumatoid Associate 33482886
Aspergillosis Associate 37277724
Autoimmune Diseases Associate 22493691, 24074872, 32879140
Autoimmune Lymphoproliferative Syndrome Associate 36123612, 37277724
Bacterial Infections Associate 20560212
Bone Marrow Failure Disorders Associate 32098966