MPDZ Gene Summary [Human]
The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
Details
| Type | Retained Intron |
| Official Symbol | MPDZ |
| Official Name | multiple PDZ domain crumbs cell polarity complex component [Source:HGNC Symbol;Acc:HGNC:7208] |
| Ensembl ID | ENSG00000107186 |
| Bio databases IDs | |
| Aliases | multiple PDZ domain crumbs cell polarity complex component |
| Synonyms | B930003D11RIK, HYC2, INAD, multiple PDZ domain crumbs cell polarity complex component, MUPP1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MPDZ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- Unstructured region 10 on multiple PDZ protein
- canonical PDZ domain
- protein binding
- PDZ domain
- cpPDZ_Deg_HtrA-like
- L27_2
- cpPDZ_RseP_YlbL-like
- L27 domain
Pathways
Biological processes and signaling networks where the MPDZ gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- schizophrenia
- Waldenström macroglobulinemia
- autosomal recessive nonsyndromic hydrocephalus type 2
- Huntington disease
- congenital hydrocephalus
- hereditary disorder
- astigmatism
- congenital hydrocephalus with brain and eye anomalies type 2
- Alzheimer disease
role in cell
- adhesion
- development
- transepithelial electrical resistance
- signal transduction in
- myelination
- transendothelial electrical resistance
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apicolateral membrane
- glutaminergic synapse
- Cytoplasm
- cellular membrane
- Nucleus
- cell-cell contacts
- apical membrane
- paranodes
- synapse
- mesaxons
- Schmidt-Lanterman incisures
- cytoplasmic vesicles
- tight junctions
- postsynaptic density
- ribbon synapse
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MPDZ gene, providing context for its role in the cell.
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- dendrite
- apicolateral plasma membrane
- tight junction
- apical part of cell
- cytoplasm
- plasma membrane
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding