PSD3 (pleckstrin and Sec7 domain containing 3)

2007-02-01  

Identity

HGNC
PSD3
LOCATION
8p22
LOCUSID
23362
ALIAS
EFA6D,EFA6R,HCA67
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23362
MIM: 614440
HGNC: 19093
Ensembl: ENSG00000156011

Variants:

dbSNP: 23362
ClinVar: 23362
TCGA: ENSG00000156011
COSMIC: PSD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156011ENST00000286485Q9NYI0
ENSG00000156011ENST00000327040Q9NYI0
ENSG00000156011ENST00000428502B4DKF8
ENSG00000156011ENST00000440756Q9NYI0
ENSG00000156011ENST00000517971E5RH02
ENSG00000156011ENST00000518315E5RFG7
ENSG00000156011ENST00000519851E5RJE4
ENSG00000156011ENST00000520858H0YC20
ENSG00000156011ENST00000521027H0YAQ7
ENSG00000156011ENST00000521475E5RIH3
ENSG00000156011ENST00000523619E5RJ29
ENSG00000156011ENST00000614430A0A087WXD8
ENSG00000156011ENST00000615573A0A087X1Z0

Expression (GTEx)

0
50
100
150
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
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

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
351023412022PSD3 downregulation confers protection against fatty liver disease.9
351023412022PSD3 downregulation confers protection against fatty liver disease.9
282378572017Genetic association analysis of polymorphisms in PSD3 gene with obesity, type 2 diabetes, and HDL cholesterol.7
282378572017Genetic association analysis of polymorphisms in PSD3 gene with obesity, type 2 diabetes, and HDL cholesterol.7
252967582014Exchange factor EFA6R requires C-terminal targeting to the plasma membrane to promote cytoskeletal rearrangement through the activation of ADP-ribosylation factor 6 (ARF6).14
252967582014Exchange factor EFA6R requires C-terminal targeting to the plasma membrane to promote cytoskeletal rearrangement through the activation of ADP-ribosylation factor 6 (ARF6).14
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
200806502010Inherited genetic variant predisposes to aggressive but not indolent prostate cancer.57
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.9
186493582008Replication of a genome-wide case-control study of esophageal squamous cell carcinoma.9
162703212005Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival.37
162703212005Five genes from chromosomal band 8p22 are significantly down-regulated in ovarian carcinoma: N33 and EFA6R have a potential impact on overall survival.37

Citation

Dessen P

PSD3 (pleckstrin and Sec7 domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43654/case-report-explorer/css/lib/gene-fusions/?id=43654