SH3PXD2B (SH3 and PX domains 2B)

2018-07-01  

Identity

HGNC
SH3PXD2B
LOCATION
5q35.1
LOCUSID
285590
ALIAS
FAD49,FTHS,HOFI,KIAA1295,TKS4,TSK4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 285590
MIM: 613293
HGNC: 29242
Ensembl: ENSG00000174705

Variants:

dbSNP: 285590
ClinVar: 285590
TCGA: ENSG00000174705
COSMIC: SH3PXD2B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174705ENST00000311601A1X283
ENSG00000174705ENST00000518522H0YAU1
ENSG00000174705ENST00000519643G3V144
ENSG00000174705ENST00000636523A0A1B0GUF2

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

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
209439482010c-Src-mediated phosphorylation of NoxA1 and Tks4 induces the reactive oxygen species (ROS)-dependent formation of functional invadopodia in human colon cancer cells.39
206094972011Direct interaction between Tks proteins and the N-terminal proline-rich region (PRR) of NoxA1 mediates Nox1-dependent ROS generation.16
228295892012Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration.12
278021842016The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma.11
192283712009Non-replication of an association of CTNNBL1 polymorphisms and obesity in a population of Central European ancestry.7
299287952018EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains.3
201377772010Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.0
218868072011The homolog of the five SH3-domain protein (HOFI/SH3PXD2B) regulates lamellipodia formation and cell spreading.0
261833262015Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.0

Citation

Dessen P

SH3PXD2B (SH3 and PX domains 2B)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57400/sh3pxd2b