PDZD8 (PDZ domain containing 8)

2014-11-01  

Identity

HGNC
PDZD8
LOCATION
10q25.3
LOCUSID
118987
ALIAS
PDZK8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 118987
MIM: 614235
HGNC: 26974
Ensembl: ENSG00000165650

Variants:

dbSNP: 118987
ClinVar: 118987
TCGA: ENSG00000165650
COSMIC: PDZD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165650ENST00000334464Q8NEN9

Expression (GTEx)

0
10
20
30
40
50
60
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
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
245546572014Contribution of PDZD8 to stabilization of the human immunodeficiency virus type 1 capsid.17
205738292010PDZD8 is a novel Gag-interacting factor that promotes retroviral infection.14
215494062011PDZD8 is a novel moesin-interacting cytoskeletal regulatory protein that suppresses infection by herpes simplex virus type 1.12
257711122015Efficient human immunodeficiency virus (HIV-1) infection of cells lacking PDZD8.7
316362022019PDZD8 mediates a Rab7-dependent interaction of the ER with late endosomes and lysosomes.4

Citation

Dessen P

PDZD8 (PDZ domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71818/pdzd8