PLS3 (plastin 3)

2008-12-01  

Identity

HGNC
PLS3
LOCATION
Xq23
LOCUSID
5358
ALIAS
BMND18,T-plastin
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5358
MIM: 300131
HGNC: 9091
Ensembl: ENSG00000102024

Variants:

dbSNP: 5358
ClinVar: 5358
TCGA: ENSG00000102024
COSMIC: PLS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102024ENST00000289290P13797
ENSG00000102024ENST00000355899P13797
ENSG00000102024ENST00000420625A0A0A0MSQ0
ENSG00000102024ENST00000473026U3KQI3
ENSG00000102024ENST00000481823F2Z2Z9
ENSG00000102024ENST00000489283F2Z2Z9
ENSG00000102024ENST00000497870H7C4N2
ENSG00000102024ENST00000539310P13797
ENSG00000102024ENST00000626746F2Z2Z9

Expression (GTEx)

0
100
200
300
400
500
600
700
800
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
184409262008Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy.162
233783422013Plastin3 is a novel marker for circulating tumor cells undergoing the epithelial-mesenchymal transition and is associated with colorectal cancer prognosis.73
232638612013Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality.49
274995212016The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype.45
240880432013PLS3 mutations in X-linked osteoporosis with fractures.39
157412362005Actin-filament cross-linking protein T-plastin increases Arp2/3-mediated actin-based movement.23
209379532010Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females.20
242710122014Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons.20
258800102015Circulating tumour cell-derived plastin3 is a novel marker for predicting long-term prognosis in patients with breast cancer.19
260481412015Actin-bundling protein plastin 3 is a regulator of ectoplasmic specialization dynamics during spermatogenesis in the rat testis.18

Citation

Dessen P

PLS3 (plastin 3)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50542/pls3