PDZD3 (PDZ domain containing 3)

2014-11-01  

Identity

HGNC
PDZD3
LOCATION
11q23.3
LOCUSID
79849
ALIAS
IKEPP,NHERF4,PDZK2

Other Information

Locus ID:

NCBI: 79849
MIM: 607146
HGNC: 19891
Ensembl: ENSG00000172367

Variants:

dbSNP: 79849
ClinVar: 79849
TCGA: ENSG00000172367
COSMIC: PDZD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172367ENST00000322712Q86UT5
ENSG00000172367ENST00000322712B0YJ61
ENSG00000172367ENST00000355547Q86UT5
ENSG00000172367ENST00000525131E9PPZ1
ENSG00000172367ENST00000531114Q86UT5
ENSG00000172367ENST00000533688E9PRB0

Expression (GTEx)

0
5
10
15
20
25
30
35
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
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
Uptake and actions of bacterial toxinsREACTOMER-HSA-5339562
Intestinal infectious diseasesREACTOMER-HSA-8942233

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
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
119508462002A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor.19
190884512008Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism.11
226270942012Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction.2
228846312012Interaction of the human prostacyclin receptor and the NHERF4 family member intestinal and kidney enriched PDZ protein (IKEPP).1

Citation

Dessen P

PDZD3 (PDZ domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71815/pdzd3