PDZD7 (PDZ domain containing 7)

2014-11-01  

Identity

HGNC
PDZD7
LOCATION
10q24.31
LOCUSID
79955
ALIAS
DFNB57,PDZK7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79955
MIM: 612971
HGNC: 26257
Ensembl: ENSG00000186862

Variants:

dbSNP: 79955
ClinVar: 79955
TCGA: ENSG00000186862
COSMIC: PDZD7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186862ENST00000370215Q9H5P4
ENSG00000186862ENST00000474125S4R3J9
ENSG00000186862ENST00000619208Q9H5P4
ENSG00000186862ENST00000642474A0A2R8Y6W6
ENSG00000186862ENST00000644576A0A2R8Y6B4
ENSG00000186862ENST00000644782A0A2R8Y892
ENSG00000186862ENST00000645349A0A2R8YFN1
ENSG00000186862ENST00000646029A0A2R8Y4R0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

References

Pubmed IDYearTitleCitations
204400712010PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.86
230554992012Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network.29
190286682009Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.22
254063102014Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.20
264162642015PDZD7 and hearing loss: More than just a modifier.18
249625682014Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein.17
307869282019Lnc-PDZD7 contributes to stemness properties and chemosensitivity in hepatocellular carcinoma through EZH2-mediated ATOH8 transcriptional repression.8
268491692016Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.6
290487362018Novel recessive PDZD7 biallelic mutations in two Chinese families with non-syndromic hearing loss.4
311292482019Novel recessive PDZD7 biallelic mutations associated with hereditary hearing loss in a Chinese pedigree.2

Citation

Dessen P

PDZD7 (PDZ domain containing 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71817/pdzd7-(pdz-domain-containing-7)