• Gene id: 2905

Gene Summary

• Gene Symbol: GRIN2C   Gene   UCSC   Ensembl
• Aliases: GluN2C, NMDAR2C, NR2C
• Gene name: glutamate ionotropic receptor NMDA type subunit 2C
• Alternate names: glutamate receptor ionotropic, NMDA 2C, N-methyl D-aspartate receptor subtype 2C, N-methyl-D-aspartate receptor subunit 2C, glutamate [NMDA] receptor subunit epsilon-3, glutamate receptor, ionotropic, N-methyl D-aspartate 2C,
• Gene location: 17q25.1 (74860842: 74842020)     Exons: 15     NC_000017.11
• Gene summary(Entrez): 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 proc
• OMIM: 138254

Protein Summary

• Protein general information: Q14957  
  • Name: Glutamate receptor ionotropic, NMDA 2C (GluN2C) (Glutamate [NMDA] receptor subunit epsilon 3) (N methyl D aspartate receptor subtype 2C) (NMDAR2C) (NR2C)
  • Length: 1233  
  • Mass: 134209
  • 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 pancre
• Sequence:

  MGGALGPALLLTSLFGAWAGLGPGQGEQGMTVAVVFSSSGPPQAQFRARLTPQSFLDLPLEIQPLTVGVNTTNPS
  SLLTQICGLLGAAHVHGIVFEDNVDTEAVAQILDFISSQTHVPILSISGGSAVVLTPKEPGSAFLQLGVSLEQQL
  QVLFKVLEEYDWSAFAVITSLHPGHALFLEGVRAVADASHVSWRLLDVVTLELGPGGPRARTQRLLRQLDAPVFV
  AYCSREEAEVLFAEAAQAGLVGPGHVWLVPNLALGSTDAPPATFPVGLISVVTESWRLSLRQKVRDGVAILALGA
  HSYWRQHGTLPAPAGDCRVHPGPVSPAREAFYRHLLNVTWEGRDFSFSPGGYLVQPTMVVIALNRHRLWEMVGRW
  EHGVLYMKYPVWPRYSASLQPVVDSRHLTVATLEERPFVIVESPDPGTGGCVPNTVPCRRQSNHTFSSGDVAPYT
  KLCCKGFCIDILKKLARVVKFSYDLYLVTNGKHGKRVRGVWNGMIGEVYYKRADMAIGSLTINEERSEIVDFSVP
  FVETGISVMVARSNGTVSPSAFLEPYSPAVWVMMFVMCLTVVAITVFMFEYFSPVSYNQNLTRGKKSGGPAFTIG
  KSVWLLWALVFNNSVPIENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEQYIDTVSGLSDKKFQRPQDQY
  PPFRFGTVPNGSTERNIRSNYRDMHTHMVKFNQRSVEDALTSLKMGKLDAFIYDAAVLNYMAGKDEGCKLVTIGS
  GKVFATTGYGIAMQKDSHWKRAIDLALLQFLGDGETQKLETVWLSGICQNEKNEVMSSKLDIDNMAGVFYMLLVA
  MGLALLVFAWEHLVYWKLRHSVPNSSQLDFLLAFSRGIYSCFSGVQSLASPPRQASPDLTASSAQASVLKMLQAA
  RDMVTTAGVSSSLDRATRTIENWGGGRRAPPPSPCPTPRSGPSPCLPTPDPPPEPSPTGWGPPDGGRAALVRRAP
  QPPGRPPTPGPPLSDVSRVSRRPAWEARWPVRTGHCGRHLSASERPLSPARCHYSSFPRADRSGRPFLPLFPELE
  DLPLLGPEQLARREALLHAAWARGSRPRHASLPSSVAEAFARPSSLPAGCTGPACARPDGHSACRRLAQAQSMCL
  PIYREACQEGEQAGAPAWQHRQHVCLHAHAHLPFCWGAVCPHLPPCASHGSWLSGAWGPLGHRGRTLGLGTGYRD
  SGGLDEISRVARGTQGFPGPCTWRRISSLESEV

• Structural information:
  • Interpro: IPR001828  IPR019594  IPR001508  IPR001320  IPR018884   IPR028082  
  • STRING: ENSP00000293190
• Other Databases: GeneCards:  GRIN2C  Malacards:  GRIN2C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:0098976	excitatory chemical synaptic transmission	NAS	biological process
GO:0007420	brain development	NAS	biological process
GO:0017146	NMDA selective glutamate receptor complex	TAS	cellular component
GO:0048167	regulation of synaptic plasticity	NAS	biological process
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IBA	molecular function
GO:0098839	postsynaptic density membrane	IBA	cellular component
GO:0060291	long-term synaptic potentiation	IBA	biological process
GO:0038023	signaling receptor activity	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IBA	cellular component
GO:0015276	ligand-gated ion channel activity	IBA	molecular function
GO:0004972	NMDA glutamate receptor activity	IBA	molecular function
GO:0060079	excitatory postsynaptic potential	IBA	biological process
GO:0050804	modulation of chemical synaptic transmission	IBA	biological process
GO:0045211	postsynaptic membrane	IBA	cellular component
GO:0008066	glutamate receptor activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0017146	NMDA selective glutamate receptor complex	IDA	cellular component
GO:0004972	NMDA glutamate receptor activity	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0022849	glutamate-gated calcium ion channel activity	IDA	molecular function
GO:0097553	calcium ion transmembrane import into cytosol	IDA	biological process
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0004970	ionotropic glutamate receptor activity	IEA	molecular function
GO:0015276	ligand-gated ion channel activity	IEA	molecular function
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0005216	ion channel activity	IEA	molecular function
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004972	NMDA glutamate receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007215	glutamate receptor signaling pathway	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004972	NMDA glutamate receptor activity	IEA	molecular function
GO:0005261	cation channel activity	IEA	molecular function
GO:0009611	response to wounding	IEA	biological process
GO:0017146	NMDA selective glutamate receptor complex	IEA	cellular component
GO:0033058	directional locomotion	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:1904315	transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential	IEA	molecular function
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0060079	excitatory postsynaptic potential	IEA	biological process
GO:1903539	protein localization to postsynaptic membrane	IEA	biological process
GO:0045211	postsynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0035235	ionotropic glutamate receptor signaling pathway	IEA	biological process
GO:0019722	calcium-mediated signaling	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05010	Alzheimer disease
hsa04080	Neuroactive ligand-receptor interaction
hsa04024	cAMP signaling pathway
hsa04020	Calcium signaling pathway
hsa05034	Alcoholism
hsa05017	Spinocerebellar ataxia
hsa04724	Glutamatergic synapse
hsa04713	Circadian entrainment
hsa04720	Long-term potentiation
hsa05031	Amphetamine addiction
hsa05030	Cocaine addiction
hsa05014	Amyotrophic lateral sclerosis
hsa05033	Nicotine addiction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq