SH2B3 (SH2B adaptor protein 3)

2010-10-01  

Identity

HGNC
SH2B3
LOCATION
12q24.12
LOCUSID
10019
ALIAS
IDDM20,LNK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10019
MIM: 605093
HGNC: 29605
Ensembl: ENSG00000111252

Variants:

dbSNP: 10019
ClinVar: 10019
TCGA: ENSG00000111252
COSMIC: SH2B3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111252ENST00000341259Q9UQQ2
ENSG00000111252ENST00000538307F5GYM4
ENSG00000111252ENST00000550925R4GN84

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neurotrophin signaling pathwayKEGGko04722
Neurotrophin signaling pathwayKEGGhsa04722
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
Signal TransductionREACTOMER-HSA-162582
Signaling by SCF-KITREACTOMER-HSA-1433557
Regulation of KIT signalingREACTOMER-HSA-1433559

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD31327267
PA448765candesartanChemicalClinicalAnnotationassociatedPD31327267

References

Pubmed IDYearTitleCitations
383774862024LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation.2
384170192024Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.1
387239472024Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer.0
383774862024LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation.2
384170192024Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity.1
387239472024Negative regulation of SH2B3 by SMYD5 controls epithelial-mesenchymal transition in lung cancer.0
366227932023CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients.0
368994932023Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations.0
366227932023CTLA4, SH2B3, and CLEC16A diversely affect the progression of early islet autoimmunity in relatives of Type 1 diabetes patients.0
368994932023Acquired uniparental isodisomies involving chromosome 12 in paediatric B-cell precursor acute lymphoblastic leukaemia: Associations with chromosome 21 gains and SH2B3 mutations.0
334954192021LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway.19
347409592021The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.3
334954192021LNK promotes granulosa cell apoptosis in PCOS via negatively regulating insulin-stimulated AKT-FOXO3 pathway.19
347409592021The Autoimmune Risk R262W Variant of the Adaptor SH2B3 Improves Survival in Sepsis.3
314287752020The Longevity-Associated SH2B3 (LNK) Genetic Variant: Selected Aging Phenotypes in 379,758 Subjects.11

Citation

Dessen P

SH2B3 (SH2B adaptor protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51692