MPDZ (multiple PDZ domain crumbs cell polarity complex component)

2019-08-01  

Identity

HGNC
LOCATION
9p23
LOCUSID
ALIAS
HYC2,MUPP1

Other Information

Locus ID:

NCBI: 8777
MIM: 603785
HGNC: 7208
Ensembl: ENSG00000107186

Variants:

dbSNP: 8777
ClinVar: 8777
TCGA: ENSG00000107186
COSMIC: MPDZ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107186ENST00000319217O75970
ENSG00000107186ENST00000381022O75970
ENSG00000107186ENST00000433359F8WDQ8
ENSG00000107186ENST00000437441H3BM19
ENSG00000107186ENST00000438511A0A075B6R8
ENSG00000107186ENST00000447879O75970
ENSG00000107186ENST00000494251H0YFZ6
ENSG00000107186ENST00000535169H0YH70
ENSG00000107186ENST00000536827O75970
ENSG00000107186ENST00000538841B7ZB24
ENSG00000107186ENST00000541718O75970
ENSG00000107186ENST00000542239F5H8D6
ENSG00000107186ENST00000542806H0YF96
ENSG00000107186ENST00000545857H0YGQ3
ENSG00000107186ENST00000546205F5H1U9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
379493822024MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer.0
379493822024MPDZ is associated with immune infiltration and regulates migration and invasion by switching YAP1 phosphorylation in colorectal cancer.0
365947122023Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.0
365947122023Retinal manifestations in autosomal recessive MPDZ maculopathy: report of two cases and literature review.0
341354772022ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.6
353056072022Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.1
341354772022ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment.6
353056072022Evaluating the association between MPDZ-NF1B rs1324183 and keratoconus in an independent northwestern Chinese population.1
341086202021MPDZ as a novel epigenetic silenced tumor suppressor inhibits growth and progression of lung cancer through the Hippo-YAP pathway.6
341086202021MPDZ as a novel epigenetic silenced tumor suppressor inhibits growth and progression of lung cancer through the Hippo-YAP pathway.6
314203272020Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.7
314203272020Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.7
312688312019DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.14
312688312019DAPLE and MPDZ bind to each other and cooperate to promote apical cell constriction.14
296205222018MPDZ promotes DLL4-induced Notch signaling during angiogenesis.16

Citation

Dessen P

MPDZ (multiple PDZ domain crumbs cell polarity complex component)

Atlas Genet Cytogenet Oncol Haematol. 2019-08-01

Online version: http://atlasgeneticsoncology.org/gene/58145/mpdz-(multiple-pdz-domain-crumbs-cell-polarity-complex-component)