Summary of MPDZ
The MPDZ gene encodes a protein that interacts with the HTR2C serotonin receptor [R]. Certain mutations of MPDZ may cause, among other conditions, severe congenital Hydrocephalus [R] and are risk factors for the corneal degenerative disorder Keratoconus [R].
The Function of MPDZ
Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.
Protein names
Recommended name:
Multiple PDZ domain proteinAlternative name(s):
Multi-PDZ domain protein 1- RS13297480 (MPDZ) ??
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Top Gene-Substance Interactions
MPDZ Interacts with These Diseases
| Disease | Score |
Substances That Increase MPDZ
| Substances | Interaction | Organism | Category |
Substances That Decrease MPDZ
| Substances | Interaction | Organism | Category |
Advanced Summary
From NCBI Gene: Hydrocephalus, nonsyndromic, autosomal recessive 2From UniProt: Hydrocephalus, non-syndromic, autosomal recessive 2 (HYC2): A disease characterized by a disturbance of cerebrospinal fluid circulation causing accumulation of ventricular cerebrospinal fluid, which results in progressive ventricular dilatation with onset in utero. Affected individuals may have neurologic impairment. [MIM:615219]
From NCBI Gene: 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] From UniProt: Interacts with HTR2C and provokes its clustering at the cell surface (By similarity). Member of the NMDAR signaling complex that may play a role in control of AMPAR potentiation and synaptic plasticity in excitatory synapses.
Conditions with Increased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Conditions with Decreased Gene Activity
| Condition | Change (log2fold) | Comparison | Species | Experimental variables | Experiment name |
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Technical
The following transcription factors affect gene expression:
Tissue specificity:
Expressed in heart, brain, placenta, liver, skeletal muscle, kidney and pancreas.