GRIN2C (glutamate ionotropic receptor NMDA type subunit 2C)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 2905
• Gene name: Glutamate ionotropic receptor NMDA type subunit 2C
• Gene symbol: GRIN2C
• Synonyms (NCBI Gene): GluN2C, NMDAR2C, NR2C
• Chromosome: 17
• Chromosome location: 17q25.1
• Summary: 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

miRNA Show/Hide all (7)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1034470	hsa-miR-298	CLIP-seq
MIRT1034471	hsa-miR-3167	CLIP-seq
MIRT1034472	hsa-miR-4786-3p	CLIP-seq
MIRT1034473	hsa-miR-876-5p	CLIP-seq
MIRT2006809	hsa-miR-1825	CLIP-seq
MIRT2006810	hsa-miR-3194-3p	CLIP-seq
MIRT2006811	hsa-miR-4502	CLIP-seq

Gene ontology (GO) Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	26875626, 26919761
GO:0004972	Function	NMDA glutamate receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	TAS	9798920, 17526495
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 30126976, 32814053
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26875626, 26919761
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	36309015
GO:0005886	Component	Plasma membrane	TAS	9798920
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	9798920
GO:0007420	Process	Brain development	NAS	17526495
GO:0009611	Process	Response to wounding	IEA
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	26875626, 26919761, 36309015, 36959261
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IPI	36309015
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0033058	Process	Directional locomotion	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	NAS	36309015
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043226	Component	Organelle	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	NAS	15317856
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	NAS	17526495
GO:0048168	Process	Regulation of neuronal synaptic plasticity	NAS	15003177
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	36309015
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IBA
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	26875626
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	26875626
GO:0098655	Process	Monoatomic cation transmembrane transport	NAS	36309015
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1903539	Process	Protein localization to postsynaptic membrane	IEA
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	NAS	36309015
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	NAS	15003177

Other IDs

• MIM: 138254
• HGNC: 4587
• e!Ensembl: ENSG00000161509

Protein

• UniProt ID: Q14957
• Protein name: Glutamate receptor ionotropic, NMDA 2C (GluN2C) (Glutamate [NMDA] receptor subunit epsilon-3) (N-methyl D-aspartate receptor subtype 2C) (NMDAR2C) (NR2C)
• Protein function: Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:26875626, PubMed:36309015). Participates in
• PDB: 8E92 , 8E93 , 8E94 , 8E97 , 8E98 , 8E99
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00060	Lig_chan	552 → 826	Ligand-gated ion channel	Family
  PF01094	ANF_receptor	98 → 288	Receptor family ligand binding region	Family
  PF10565	NMDAR2_C	837 → 923	N-methyl D-aspartate receptor 2B3 C-terminus	Family
  PF10613	Lig_chan-Glu_bd	401 → 539	Ligated ion channel L-glutamate- and glycine-binding site	Domain

• Tissue specificity: 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:

  MGGALGPALLLTSLFGAWAGLGPGQGEQGMTVAVVFSSSGPPQAQFRARLTPQSFLDLPL
  EIQPLTVGVNTTNPSSLLTQICGLLGAAHVHGIVFEDNVDTEAVAQILDFISSQTHVPIL
  SISGGSAVVLTPKEPGSAFLQLGVSLEQQLQVLFKVLEEYDWSAFAVITSLHPGHALFLE
  GVRAVADASHVSWRLLDVVTLELGPGGPRARTQRLLRQLDAPVFVAYCSREEAEVLFAEA
  AQAGLVGPGHVWLVPNLALGSTDAPPATFPVGLISVVTESWRLSLRQKVRDGVAILALGA
  HSYWRQHGTLPAPAGDCRVHPGPVSPAREAFYRHLLNVTWEGRDFSFSPGGYLVQPTMVV
  IALNRHRLWEMVGRWEHGVLYMKYPVWPRYSASLQPVVDSRHLTVATLEERPFVIVESPD
  PGTGGCVPNTVPCRRQSNHTFSSGDVAPYTKLCCKGFCIDILKKLARVVKFSYDLYLVTN
  GKHGKRVRGVWNGMIGEVYYKRADMAIGSLTINEERSEIVDFSVPFVETGISVMVARSNG
  TVSPSAFLEPYSPAVWVMMFVMCLTVVAITVFMFEYFSPVSYNQNLTRGKKSGGPAFTIG
  KSVWLLWALVFNNSVPIENPRGTTSKIMVLVWAFFAVIFLASYTANLAAFMIQEQYIDTV
  SGLSDKKFQRPQDQYPPFRFGTVPNGSTERNIRSNYRDMHTHMVKFNQRSVEDALTSLKM
  GKLDAFIYDAAVLNYMAGKDEGCKLVTIGSGKVFATTGYGIAMQKDSHWKRAIDLALLQF
  LGDGETQKLETVWLSGICQNEKNEVMSSKLDIDNMAGVFYMLLVAMGLALLVFAWEHLVY
  WKLRHSVPNSSQLDFLLAFSRGIYSCFSGVQSLASPPRQASPDLTASSAQASVLKMLQAA
  RDMVTTAGVSSSLDRATRTIENWGGGRRAPPPSPCPTPRSGPSPCLPTPDPPPEPSPTGW
  GPPDGGRAALVRRAPQPPGRPPTPGPPLSDVSRVSRRPAWEARWPVRTGHCGRHLSASER
  PLSPARCHYSSFPRADRSGRPFLPLFPELEDLPLLGPEQLARREALLHAAWARGSRPRHA
  SLPSSVAEAFARPSSLPAGCTGPACARPDGHSACRRLAQAQSMCLPIYREACQEGEQAGA
  PAWQHRQHVCLHAHAHLPFCWGAVCPHLPPCASHGSWLSGAWGPLGHRGRTLGLGTGYRD
  SGGLDEISRVARGTQGFPGPCTWRRISSLESEV

• Sequence length: 1233

Pathways

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Unblocking of NMDA receptors, glutamate binding and activation
cAMP signaling pathway	Synaptic adhesion-like molecules
Neuroactive ligand-receptor interaction	Assembly and cell surface presentation of NMDA receptors
Circadian entrainment
Long-term potentiation
Glutamatergic synapse
Alzheimer disease
Amyotrophic lateral sclerosis
Spinocerebellar ataxia
Prion disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction
Amphetamine addiction
Nicotine addiction
Alcoholism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (7)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALZHEIMER DISEASE	—	GenCC	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUDITORY NEUROPATHY AND OPTIC ATROPHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRIN2C-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	33830181	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar disorder	Pubtator	26013316	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	31820502		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	25081057		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29101031		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31110197		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25723166		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29230960		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	14684436, 18033238, 21919190, 23070074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18033238, 21919190, 23070074, 24556017		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	29317596	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	33536559	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	25081057		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

GRIN2D 14 shared pathwaysCalcium signaling pathway, cAMP signaling pathway, Circadian entrainment, Long-term potentiation, Glutamatergic synapse, Spinocerebellar ataxia, Prion disease, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism, Synaptic adhesion-like molecules +2 more Related via 14 shared pathways including Calcium signaling pathway, cAMP signaling pathway. GRIN1 14 shared pathwaysCalcium signaling pathway, cAMP signaling pathway, Circadian entrainment, Long-term potentiation, Glutamatergic synapse, Spinocerebellar ataxia, Prion disease, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism, Synaptic adhesion-like molecules +2 more Related via 14 shared pathways including Calcium signaling pathway, cAMP signaling pathway. GRIN2A 14 shared pathwaysCalcium signaling pathway, cAMP signaling pathway, Circadian entrainment, Long-term potentiation, Glutamatergic synapse, Spinocerebellar ataxia, Prion disease, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism, Synaptic adhesion-like molecules +2 more Related via 14 shared pathways including Calcium signaling pathway, cAMP signaling pathway. GRIN3A 10 shared pathwaysCalcium signaling pathway, cAMP signaling pathway, Glutamatergic synapse, Spinocerebellar ataxia, Prion disease, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism, Assembly and cell surface presentation of NMDA receptors Related via 10 shared pathways including Calcium signaling pathway, cAMP signaling pathway. GRIN2B 14 shared pathwaysCalcium signaling pathway, cAMP signaling pathway, Circadian entrainment, Long-term potentiation, Glutamatergic synapse, Spinocerebellar ataxia, Prion disease, Cocaine addiction, Amphetamine addiction, Nicotine addiction, Alcoholism, Synaptic adhesion-like molecules +2 more 1 shared evidence sourceDisgenet (Alzheimer disease) Related via 14 shared pathways including Calcium signaling pathway, cAMP signaling pathway — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
GRIN2D	0	[]	14	["Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","Synaptic adhesion-like molecules"]	0	[]
GRIN1	0	[]	14	["Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","Synaptic adhesion-like molecules"]	0	[]
GRIN2A	0	[]	14	["Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","Synaptic adhesion-like molecules"]	0	[]
GRIN3A	0	[]	10	["Calcium signaling pathway","cAMP signaling pathway","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","Assembly and cell surface presentation of NMDA receptors"]	0	[]
GRIN2B	0	[]	14	["Calcium signaling pathway","cAMP signaling pathway","Circadian entrainment","Long-term potentiation","Glutamatergic synapse","Spinocerebellar ataxia","Prion disease","Cocaine addiction","Amphetamine addiction","Nicotine addiction","Alcoholism","Synaptic adhesion-like molecules"]	1	["Disgenet (Alzheimer disease)"]

Diseases Linked via Similar Genes

Neurodevelopmental disorder Linked via 4 of 5 related genesGRIN2D, GRIN1, GRIN2A, GRIN2B Developmental and epileptic encephalopathy Linked via 4 of 5 related genesGRIN2D, GRIN1, GRIN2A, GRIN2B Non-specific syndromic intellectual disability Linked via 4 of 5 related genesGRIN2D, GRIN1, GRIN2A, GRIN2B complex neurodevelopmental disorder Linked via 4 of 5 related genesGRIN2D, GRIN1, GRIN2A, GRIN2B Bipolar disorder Linked via 4 of 5 related genesGRIN1, GRIN2A, GRIN3A, GRIN2B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Neurodevelopmental disorder	4	["GRIN2D","GRIN1","GRIN2A","GRIN2B"]
Developmental and epileptic encephalopathy	4	["GRIN2D","GRIN1","GRIN2A","GRIN2B"]
Non-specific syndromic intellectual disability	4	["GRIN2D","GRIN1","GRIN2A","GRIN2B"]
complex neurodevelopmental disorder	4	["GRIN2D","GRIN1","GRIN2A","GRIN2B"]
Bipolar disorder	4	["GRIN1","GRIN2A","GRIN3A","GRIN2B"]