Human Gene GRIN2C (ENST00000347612.4) from GENCODE V44
Description: Homo sapiens glutamate ionotropic receptor NMDA type subunit 2C (GRIN2C), transcript variant 2, mRNA. (from RefSeq NM_001278553) RefSeq Summary (NM_001278553): This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptor, which is a subtype of ionotropic glutamate receptor. NMDA receptors are found in the central nervous system, are permeable to cations and have an important role in physiological processes such as learning, memory, and synaptic development. The receptor is a tetramer of different subunits (typically heterodimer of subunit 1 with one or more of subunits 2A-D), forming a channel that is permeable to calcium, potassium, and sodium, and whose properties are determined by subunit composition. Alterations in the subunit composition of the receptor are associated with pathophysiological conditions such as Parkinson's disease, Alzheimer's disease, depression, and schizophrenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]. Gencode Transcript: ENST00000347612.4 Gencode Gene: ENSG00000161509.14 Transcript (Including UTRs) Position: hg38 chr17:74,844,032-74,860,535 Size: 16,504 Total Exon Count: 12 Strand: - Coding Region Position: hg38 chr17:74,844,237-74,855,092 Size: 10,856 Coding Exon Count: 11
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01094 - Receptor family ligand binding region PF00060 - Ligand-gated ion channel PF00497 - Bacterial extracellular solute-binding proteins, family 3
ModBase Predicted Comparative 3D Structure on H0Y2V8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0004970 ionotropic glutamate receptor activity GO:0005216 ion channel activity GO:0005234 extracellular-glutamate-gated ion channel activity GO:0038023 signaling receptor activity
Biological Process: GO:0006811 ion transport GO:0007165 signal transduction GO:0034220 ion transmembrane transport GO:0035235 ionotropic glutamate receptor signaling pathway GO:0060079 excitatory postsynaptic potential