Human Gene GRIN2C (ENST00000293190.10) from GENCODE V44
Description: Homo sapiens glutamate ionotropic receptor NMDA type subunit 2C (GRIN2C), transcript variant 3, non-coding RNA. (from RefSeq NR_103735) RefSeq Summary (NM_000835): 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: ENST00000293190.10 Gencode Gene: ENSG00000161509.14 Transcript (Including UTRs) Position: hg38 chr17:74,842,023-74,859,885 Size: 17,863 Total Exon Count: 13 Strand: - Coding Region Position: hg38 chr17:74,842,435-74,855,092 Size: 12,658 Coding Exon Count: 12
ID:NMDE3_HUMAN DESCRIPTION: RecName: Full=Glutamate [NMDA] receptor subunit epsilon-3; AltName: Full=N-methyl D-aspartate receptor subtype 2C; Short=NMDAR2C; Short=NR2C; Flags: Precursor; FUNCTION: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine. SUBUNIT: Interacts with PDZ domains of INADL and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B). SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Mainly expressed in brain with predominant expression is in the cerebellum, also present in the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the heart, skeletal muscle and pancreas. SIMILARITY: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily.
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 PF10565 - N-methyl D-aspartate receptor 2B3 C-terminus PF00497 - Bacterial extracellular solute-binding proteins, family 3
ModBase Predicted Comparative 3D Structure on Q14957
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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.