Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10019
Gene name Gene Name - the full gene name approved by the HGNC.
SH2B adaptor protein 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SH2B3
Synonyms (NCBI Gene) Gene synonyms aliases
IDDM20, LNK
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q24.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605093 29605 ENSG00000111252
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myelofibrosis primary myelofibrosis rs587776885 N/A
Multiple myeloma multiple myeloma rs1029296641 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Ankylosing Spondylitis Ankylosing spondylitis N/A N/A GWAS
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Associations from Text Mining Disease 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