SH3BP2 (SH3 domain binding protein 2)

2003-02-01  

Identity

HGNC
SH3BP2
LOCATION
4p16.3
LOCUSID
6452
ALIAS
3BP-2,3BP2,CRBM,CRPM,RES4-23
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6452
MIM: 602104
HGNC: 10825
Ensembl: ENSG00000087266

Variants:

dbSNP: 6452
ClinVar: 6452
TCGA: ENSG00000087266
COSMIC: SH3BP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087266ENST00000356331P78314
ENSG00000087266ENST00000356331A0A384N6E5
ENSG00000087266ENST00000435136P78314
ENSG00000087266ENST00000452765A0A499FIV3
ENSG00000087266ENST00000502260D6RAB4
ENSG00000087266ENST00000503219D6RAB4
ENSG00000087266ENST00000503393P78314
ENSG00000087266ENST00000503393A0A384N6E5
ENSG00000087266ENST00000504294D6R995
ENSG00000087266ENST00000508385D6RER9
ENSG00000087266ENST00000511747P78314
ENSG00000087266ENST00000512014D6RBL6
ENSG00000087266ENST00000513020P78314
ENSG00000087266ENST00000513069H0YAD9
ENSG00000087266ENST00000513095D6RC64
ENSG00000087266ENST00000515737P78314

Expression (GTEx)

0
10
20
30
40
50
60
70
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
Natural killer cell mediated cytotoxicityKEGGko04650
Natural killer cell mediated cytotoxicityKEGGhsa04650

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
cervix, uterine
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
PA10004adalimumabChemicalVariantAnnotationnot associatedPD23007924
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotation, VariantAnnotationambiguousPD23007924, 30653751
PA443434Arthritis, RheumatoidDiseaseVariantAnnotationnot associatedPD23007924
PA445451PsoriasisDiseaseClinicalAnnotationassociatedPD30653751
PA446198Arthritis, PsoriaticDiseaseClinicalAnnotationassociatedPD30653751
PA449515etanerceptChemicalVariantAnnotationnot associatedPD23007924
PA452639infliximabChemicalVariantAnnotationnot associatedPD23007924

References

Pubmed IDYearTitleCitations
381274562024Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.1
381274562024Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.1
339413952022SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review.2
352796462022[Cherubism in three siblings].0
339413952022SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review.2
352796462022[Cherubism in three siblings].0
287216602018Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.2
298850532018Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth.8
287216602018Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations.2
298850532018Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth.8
258103962015The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.13
258103962015The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.13
246082122014A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.2
246082122014A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.2
227951512012Mutations of the SH3BP2 gene in 2 families of cherubism.1

Citation

Dessen P

SH3BP2 (SH3 domain binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42283/css/meetings/