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
198745742009Genetical genomic determinants of alcohol consumption in rats and humans.93
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
153649092004The coxsackievirus and adenovirus receptor interacts with the multi-PDZ domain protein-1 (MUPP-1) within the tight junction.46
194836572009Decreased expression of NMDA receptor-associated proteins in frontal cortex of elderly patients with schizophrenia.39
183786722008The PDZ protein mupp1 promotes Gi coupling and signaling of the Mt1 melatonin receptor.29
192551442009Similar and distinct properties of MUPP1 and Patj, two homologous PDZ domain-containing tight-junction proteins.28
191757642009Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.24
191757642009Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.24
232400962013Mutation in MPDZ causes severe congenital hydrocephalus.18
176729182007Violating the splicing rules: TG dinucleotides function as alternative 3' splice sites in U2-dependent introns.17

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