Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	2747
Gene name	Glutamate dehydrogenase 2
Gene symbol	GLUD2
Synonyms (NCBI Gene)	GDH2GLUDP1
Chromosome	X
Chromosome location	Xq24
Summary	The protein encoded by this gene is localized to the mitochondrion and acts as a homohexamer to recycle glutamate during neurotransmission. The encoded enzyme catalyzes the reversible oxidative deamination of glutamate to alpha-ketoglutarate. This gene is

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miRTarBase ID	miRNA	Experiments	Reference
MIRT036419	hsa-miR-1226-3p	CLASH	23622248
MIRT725498	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT725497	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT725495	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT725496	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT725494	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT725498	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT725497	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT725495	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT725496	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT725494	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT710738	hsa-miR-3646	HITS-CLIP	19536157
MIRT710739	hsa-miR-1283	HITS-CLIP	19536157
MIRT710737	hsa-miR-4738-3p	HITS-CLIP	19536157
MIRT710736	hsa-miR-187-5p	HITS-CLIP	19536157
MIRT710735	hsa-miR-1257	HITS-CLIP	19536157
MIRT710734	hsa-miR-3161	HITS-CLIP	19536157
MIRT1021991	hsa-miR-103a	CLIP-seq
MIRT1021992	hsa-miR-107	CLIP-seq
MIRT1021993	hsa-miR-15a	CLIP-seq
MIRT1021994	hsa-miR-15b	CLIP-seq
MIRT1021995	hsa-miR-16	CLIP-seq
MIRT1021996	hsa-miR-195	CLIP-seq
MIRT1021997	hsa-miR-3120-3p	CLIP-seq
MIRT1021998	hsa-miR-3152-3p	CLIP-seq
MIRT1021999	hsa-miR-3163	CLIP-seq
MIRT1022000	hsa-miR-3657	CLIP-seq
MIRT1022001	hsa-miR-424	CLIP-seq
MIRT1022002	hsa-miR-4279	CLIP-seq
MIRT1022003	hsa-miR-4656	CLIP-seq
MIRT1022004	hsa-miR-4799-5p	CLIP-seq
MIRT1022005	hsa-miR-497	CLIP-seq
MIRT1022006	hsa-miR-561	CLIP-seq
MIRT1022007	hsa-miR-628-5p	CLIP-seq
MIRT2002833	hsa-miR-1273g	CLIP-seq
MIRT2002834	hsa-miR-185	CLIP-seq
MIRT2002835	hsa-miR-3167	CLIP-seq
MIRT2002836	hsa-miR-409-5p	CLIP-seq
MIRT1022002	hsa-miR-4279	CLIP-seq
MIRT2002837	hsa-miR-4306	CLIP-seq
MIRT2002838	hsa-miR-4433	CLIP-seq
MIRT2002839	hsa-miR-4459	CLIP-seq
MIRT2002840	hsa-miR-4495	CLIP-seq
MIRT2002841	hsa-miR-4644	CLIP-seq
MIRT2002842	hsa-miR-4652-3p	CLIP-seq
MIRT1022003	hsa-miR-4656	CLIP-seq
MIRT2002843	hsa-miR-4666-5p	CLIP-seq
MIRT2002844	hsa-miR-4768-3p	CLIP-seq
MIRT2002845	hsa-miR-876-5p	CLIP-seq
MIRT2235852	hsa-miR-1224-5p	CLIP-seq
MIRT2002833	hsa-miR-1273g	CLIP-seq
MIRT2235853	hsa-miR-219-5p	CLIP-seq
MIRT2235854	hsa-miR-30a	CLIP-seq
MIRT2235855	hsa-miR-30b	CLIP-seq
MIRT2235856	hsa-miR-30c	CLIP-seq
MIRT2235857	hsa-miR-30d	CLIP-seq
MIRT2235858	hsa-miR-30e	CLIP-seq
MIRT2002835	hsa-miR-3167	CLIP-seq
MIRT2235859	hsa-miR-3614-5p	CLIP-seq
MIRT2235860	hsa-miR-3680	CLIP-seq
MIRT2235861	hsa-miR-377	CLIP-seq
MIRT2235862	hsa-miR-3915	CLIP-seq
MIRT2002836	hsa-miR-409-5p	CLIP-seq
MIRT1022002	hsa-miR-4279	CLIP-seq
MIRT2235863	hsa-miR-4445	CLIP-seq
MIRT2002840	hsa-miR-4495	CLIP-seq
MIRT2235864	hsa-miR-4536	CLIP-seq
MIRT2002842	hsa-miR-4652-3p	CLIP-seq
MIRT1022003	hsa-miR-4656	CLIP-seq
MIRT2002843	hsa-miR-4666-5p	CLIP-seq
MIRT2235865	hsa-miR-4689	CLIP-seq
MIRT2235866	hsa-miR-4751	CLIP-seq
MIRT2235867	hsa-miR-4775	CLIP-seq
MIRT2235868	hsa-miR-4782-3p	CLIP-seq
MIRT2235869	hsa-miR-508-3p	CLIP-seq
MIRT2235870	hsa-miR-512-5p	CLIP-seq
MIRT2235871	hsa-miR-568	CLIP-seq
MIRT2235872	hsa-miR-580	CLIP-seq
MIRT2235873	hsa-miR-643	CLIP-seq
MIRT2235874	hsa-miR-653	CLIP-seq
MIRT2235875	hsa-miR-656	CLIP-seq
MIRT2002845	hsa-miR-876-5p	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IBA
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IDA	8207021, 15578726
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IEA
GO:0004353	Function	Glutamate dehydrogenase [NAD(P)+] activity	IDA	11032875
GO:0004353	Function	Glutamate dehydrogenase [NAD(P)+] activity	IEA
GO:0004354	Function	Glutamate dehydrogenase (NADP+) activity	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005525	Function	GTP binding	IDA	11032875
GO:0005525	Function	GTP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	18688271
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005829	Component	Cytosol	IDA	18688271
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006536	Process	Glutamate metabolic process	IDA	8207021
GO:0006537	Process	Glutamate biosynthetic process	IDA	11032875
GO:0006537	Process	Glutamate biosynthetic process	IEA
GO:0006538	Process	L-glutamate catabolic process	IBA
GO:0006538	Process	L-glutamate catabolic process	IDA	11032875
GO:0006538	Process	L-glutamate catabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016639	Function	Oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor	IEA
GO:0043531	Function	ADP binding	IDA	12742085
GO:0043531	Function	ADP binding	IEA
GO:0070728	Function	L-leucine binding	IDA	12742085
GO:0070728	Function	L-leucine binding	IEA

MIM	HGNC	e!Ensembl
300144	4336	ENSG00000182890

P49448

Protein name

Glutamate dehydrogenase 2, mitochondrial (GDH 2) (EC 1.4.1.3)

Protein function

Important for recycling the chief excitatory neurotransmitter, glutamate, during neurotransmission.

PDB

6G2U

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02812	ELFV_dehydrog_N	112 → 242	Glu/Leu/Phe/Val dehydrogenase, dimerisation domain	Domain
PF00208	ELFV_dehydrog	263 → 463	Glutamate/Leucine/Phenylalanine/Valine dehydrogenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina, testis and, at a lower level, brain.

Sequence

MYRYLAKALLPSRAGPAALGSAANHSAALLGRGRGQPAAASQPGLALAARRHYSELVADR
EDDPNFFKMVEGFFDRGASIVEDKLVKDLRTQESEEQKRNRVRGILRIIKPCNHVLSLSF
PIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFG
GAKAGVKINPKNYTENELEKITRRFTMELAKKGFIGPGVDVPAPDMNTGEREMSWIADTY
ASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFR
DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILG
FPKAKPYEGSILEVDCDILIPAATEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLER
NILVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLLSVQESLERKFGK
HGGTIPIVPTAEFQDSISGASEKDIVHSALAYTMERSARQIMHTAMKYNLGLDLRTAAYV
NAIEKVFKVYSEAGVTFT

Sequence length

558

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs140532390	RCV003991610	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
GLUD2-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

GLUD2 (glutamate dehydrogenase 2)