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FLASH GENE

Symbol

GLUD2

contributors: mct - updated : 15-03-2022

HGNC name	glutamate dehydrogenase 2
HGNC id	4336

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xq24      Physical location : 120.181.461 - 120.183.794
Synonym name	glutamate dehydrogenase pseudogene 1
	glutamate dehydrogenase 2, mitochondrial
Synonym symbol(s)	GLUDP1, GDH2, GDH
EC.number	1.4.1.3

DNA

TYPE	functioning gene
STRUCTURE	2.48 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012084 1 - 2485 NP_036216 61 558 - 2010 20194501

EXPRESSION

Type

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 Endocrine adrenal gland cortex       Homo sapiens Nervous brain basal nuclei striatum     Homo sapiens   brain hindbrain cerebellum   predominantly Homo sapiens Adult   brain forebrain cerebral cortex     Homo sapiens Reproductive male system testis     highly Homo sapiens Urinary kidney tubule convoluted tubule     Homo sapiens Adult Visual eye retina     highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Nervous Purkinje cell Homo sapiens Adult Reproductive Sertoli cell Homo sapiens Urinary epithelial cell Homo sapiens Adult

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

Glu/Leu/Phe/Val dehydrogenases family

CATEGORY

adhesion , enzyme , transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria,matrix
text	localizes mainly to mitochondria and to a lesser extent to the endoplasmic reticulum of these cells

basic FUNCTION	involved in the detoxification of transmitter glutamate
	enzyme central to the metabolism of glutamate that also plays a role in cellular energetics
	having importance for nerve tissue biology
	in the kidney, could contribute to enhanced excretion of ammonia under acidosis
	GLUD2 is not only an adhesion molecule at synapses but also works as a channel
	role for GLUD1, GLUD2 at excitatory synapses in neuronal networks throughout the adult brain
	synaptic connection in the adult brain can regenerate with aid of GLUD2
	regulates synapse formation and regeneration, synaptic plasticity, and motor learning
	CBLN1 and postsynaptic receptor GLUD2 mediate synaptogenesis between granule cells and Purkinje cells in the molecular layer of the cerebellar cortex
	GLUD1 and GlUD2 exhibit the molecular architecture of postsynaptic ionotropic glutamate receptors, but assemble into trans-synaptic adhesion complexes by binding to secreted cerebellins that in turn interact with presynaptic neurexins

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

aminoacid

signaling

a component

CBLN1-GLUD2 complex is a unique synapse organizer that acts bidirectionally on both pre- and postsynaptic components

INTERACTION

DNA

RNA

small molecule

protein	CBLN1 binds directly to the N-terminal domain of GLUD2 (GLUD2 expression by postsynaptic cells, combined with exogenously applied CBLN1, was necessary and sufficient to induce new synapsesd in the adult cerebellum)
	interactions between GLUD2 and DLG2 involve more than the extreme terminus of the receptor

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to parkinson disease with earlier onset

Variant & Polymorphism other	a gain-of-function rare polymorphism modifies Parkinson disease onset

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS