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
194304792009Genome-wide association study of blood pressure and hypertension.542
194304832009Genome-wide association study identifies eight loci associated with blood pressure.476
192649852009Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.405
201907522010Multiple common variants for celiac disease influencing immune gene expression.351
198381952009A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.316
191986102009Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.271
191986102009Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.271
190739672008Shared and distinct genetic variants in type 1 diabetes and celiac disease.249
183111402008Newly identified genetic risk variants for celiac disease related to the immune response.231
209713642010A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses.181

Citation

Dessen P

SH2B3 (SH2B adaptor protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51692/sh2b3