PSD (pleckstrin and Sec7 domain containing)

2003-02-01  

Identity

HGNC
PSD
LOCATION
10q24.32
LOCUSID
5662
ALIAS
EFA6,EFA6A,PSD1,TYL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5662
MIM: 602327
HGNC: 9507
Ensembl: ENSG00000059915

Variants:

dbSNP: 5662
ClinVar: 5662
TCGA: ENSG00000059915
COSMIC: PSD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000059915ENST00000020673A5PKW4
ENSG00000059915ENST00000406432A5PKW4
ENSG00000059915ENST00000461698A0A1B0GUT6
ENSG00000059915ENST00000611678A5PKW4

Expression (GTEx)

0
50
100
150
200
250
300
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
N/A

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
175790872007Phosphorylation of pleckstrin increases proinflammatory cytokine secretion by mononuclear phagocytes in diabetes mellitus.18
251142322014EFA6 controls Arf1 and Arf6 activation through a negative feedback loop.13
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
263305662016Class I Arfs (Arf1 and Arf3) and Arf6 are localized to the Flemming body and play important roles in cytokinesis.4
292469442018EFA6 proteins regulate lumen formation through α-actinin 1.4
220021362012Aberrant methylation of the Pleckstrin and Sec7 domain-containing gene is implicated in ulcerative colitis-associated carcinogenesis through its inhibitory effect on apoptosis.2
221797192012Aberrant methylation of PSD disturbs Rac1-mediated immune responses governing neutrophil chemotaxis and apoptosis in ulcerative colitis-associated carcinogenesis.2
236033942013EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis.2
253556262015The Pleckstrin and Sec7 domain-containing gene as a novel epigenetic modification marker in human gastric cancer and its clinical significance.2

Citation

Dessen P

PSD (pleckstrin and Sec7 domain containing)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/41882/psd