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FLASH GENE

Symbol

GRIA4

contributors: mct - updated : 24-01-2018

HGNC name	glutamate receptor, ionotrophic, AMPA 4
HGNC id	4574

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEDSGA neurodevelopmental disorder with or without seizures and gait abnormalities
Location	11q22.3      Physical location : 105.480.799 - 105.852.819
Synonym name	DNA segment, single copy, probe GLUR4
	AMPA-selective glutamate receptor 4
Synonym symbol(s)	D11S2054, GLURD, GLR4, GLUR4C, GluA4

DNA

TYPE	functioning gene
STRUCTURE	368.65 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	with flip and flop isoforms

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed GLUR4c - splicing 113 - 36 widespread in the brain, and was upregulated with development in the cerebellum and cerebral cortex 1995 8589990 had a 113-bp insert containing a stop codon, resulting in a short C terminus NM_000829 - - 5508 NP_000820 100.9 902 - 1995 8589990 NM_001077243 - - 5621 NP_001070711 - 884 - 1995 8589990 NM_001077244 - - 3385 NP_001070712 49.1 433 - 1995 8589990 NM_001112812 - - 3213 NP_001106283 49.1 433 - 1995 8589990

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Hearing/Equilibrium ear         Nervous brain limbic system hippocampus     Homo sapiens Adult   brain hindbrain cerebellum   highly Homo sapiens Visual eye retina fovea       eye retina macula

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining epidermis     Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Nervous pyramidal cell Homo sapiens Adult Skin/Tegument keratinocyte Mus musculus

cell lineage	glioblastoma cell lineage
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	ligand binding site in the N terminal region
	four transmembrane segments (4TM)
	one of which forming the wall of the channel
	and a large intracellular loop

HOMOLOGY

interspecies

homolog to murine Gria4

Homologene

FAMILY

ligand gated ion channel family

CATEGORY

protooncogene , receptor membrane

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle

basic FUNCTION	mediating the fast component of excitatory post synaptic currents in the central nervous system
	predominant excitatory neurotransmitter receptors in the mammalian brain
	likely involvement of the GRIA4 subunit in cognitive function
	GRIA4 defines the signaling requirements for long-term potentiation (LTP) and silent synapse activation during a critical period of synapse development
	is critical for neonatal long-term potentiation
	GRIA4 enables likely efficient homeostatic upscaling and responsiveness to temporal activity patterns during the critical period of activity-dependent refinement of the circuitry
	GRIA4-mediated activation of silent synapses is a critical mechanism facilitating the functional maturation of glutamatergic circuitry during the critical period of experience-dependent fine-tunin
	GRIA4-containing AMPAR are expressed in epidermal keratinocytes, and pruritic and painful dermatopathologies have alterations in the keratinocyte expression levels of GRIA4-containing AMPAR

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with and signaling through the protein-kinase LYN

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

NEDSGA

Susceptibility

to intellectual disability with or without seizures and gait abnormalities

Variant & Polymorphism other	de novo, heterozygous pathogenic variants in GRIA4 are causative for ID with or without seizures and gait abnormalities

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Gria4 deficient mice provide a model of Absence epilepsy (AE)
	GluR4 knockout mice showed mildly improved spatial working memory in the T-maze test