PDZD3 (PDZ domain containing 3)

2014-11-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
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

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

References

Pubmed IDYearTitleCitations
226270942012Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction.3
228846312012Interaction of the human prostacyclin receptor and the NHERF4 family member intestinal and kidney enriched PDZ protein (IKEPP).1
226270942012Regulation of SLC26A3 activity by NHERF4 PDZ-mediated interaction.3
228846312012Interaction of the human prostacyclin receptor and the NHERF4 family member intestinal and kidney enriched PDZ protein (IKEPP).1
190884512008Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism.13
190884512008Elevated intracellular calcium stimulates NHE3 activity by an IKEPP (NHERF4) dependent mechanism.13
119508462002A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor.22
119508462002A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor.22

Citation

Dessen P

PDZD3 (PDZ domain containing 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71815/pdzd3-(pdz-domain-containing-3)