SH3BP4 (SH3 domain binding protein 4)

2016-10-01  

Identity

HGNC
SH3BP4
LOCATION
2q37.2
LOCUSID
23677
ALIAS
BOG25,TTP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23677
MIM: 605611
HGNC: 10826
Ensembl: ENSG00000130147

Variants:

dbSNP: 23677
ClinVar: 23677
TCGA: ENSG00000130147
COSMIC: SH3BP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130147ENST00000344528Q9P0V3
ENSG00000130147ENST00000392011Q9P0V3
ENSG00000130147ENST00000409212Q9P0V3
ENSG00000130147ENST00000416021C9JF25
ENSG00000130147ENST00000444916C9JWW6
ENSG00000130147ENST00000446904C9JED2
ENSG00000130147ENST00000454947C9JRG1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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

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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
163255812005TTP specifically regulates the internalization of the transferrin receptor.45
225756742012SH3BP4 is a negative regulator of amino acid-Rag GTPase-mTORC1 signaling.38
288193212017SH3BP4, a novel pigmentation gene, is inversely regulated by miR-125b and MITF.5
298805332019MicroRNA-Related Genetic Variants Associated with Survival of Head and Neck Squamous Cell Carcinoma.5
308119772019SH3BP4 Regulates Intestinal Stem Cells and Tumorigenesis by Modulating β-Catenin Nuclear Localization.2

Citation

Dessen P

SH3BP4 (SH3 domain binding protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56097/sh3bp4