MPDZ gene

multiple PDZ domain crumbs cell polarity complex component

The information on this page was automatically extracted from online scientific databases.

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.

From NCBI Gene:

  • Hydrocephalus, nonsyndromic, autosomal recessive 2

From 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]

Cytogenetic Location: 9p23, which is the short (p) arm of chromosome 9 at position 23

Molecular Location: base pairs 13,105,296 to 13,279,687 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9p23, which is the short (p) arm of chromosome 9 at position 23
  • HYC2
  • MUPP1