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

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2744
Gene name Gene Name - the full gene name approved by the HGNC.	Glutaminase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GLS
Synonyms (NCBI Gene) Gene synonyms aliases	AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1, KGA
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q32.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1212883982	->A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1558971345	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1558972120	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558973667	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1558986214	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1559310284	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained

Show/Hide all(292)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018403	hsa-miR-335-5p	Microarray	18185580
MIRT025883	hsa-miR-7-5p	Microarray	17612493
MIRT025883	hsa-miR-7-5p	Microarray	19073608
MIRT734751	hsa-miR-146a-5p	Microarray, qRT-PCR	33610185
MIRT734752	hsa-miR-1260a	Microarray, qRT-PCR	33610185
MIRT734751	hsa-miR-146a-5p	Microarray, qRT-PCR	33610185
MIRT734754	hsa-miR-21-5p	Microarray, qRT-PCR	33610185
MIRT737336	hsa-miR-122-3p	Luciferase reporter assay, Western blotting, RNA-seq, qRT-PCR	32180557
MIRT755368	hsa-miR-137	Luciferase reporter assay, Western blotting	34958454
MIRT756434	hsa-miR-338-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36050752
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT1021538	hsa-miR-133a	CLIP-seq
MIRT1021539	hsa-miR-133b	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021540	hsa-miR-141	CLIP-seq
MIRT1021541	hsa-miR-147	CLIP-seq
MIRT1021542	hsa-miR-151-3p	CLIP-seq
MIRT1021543	hsa-miR-188-5p	CLIP-seq
MIRT1021544	hsa-miR-200a	CLIP-seq
MIRT1021545	hsa-miR-203	CLIP-seq
MIRT1021546	hsa-miR-216b	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1021551	hsa-miR-3173-3p	CLIP-seq
MIRT1021552	hsa-miR-3545-5p	CLIP-seq
MIRT1021553	hsa-miR-361-3p	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1021555	hsa-miR-3925-3p	CLIP-seq
MIRT1021556	hsa-miR-3938	CLIP-seq
MIRT1021557	hsa-miR-4281	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1021560	hsa-miR-4463	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT1021562	hsa-miR-4499	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT1021565	hsa-miR-4712-5p	CLIP-seq
MIRT1021566	hsa-miR-4762-5p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1021571	hsa-miR-508-5p	CLIP-seq
MIRT1021572	hsa-miR-558	CLIP-seq
MIRT1021573	hsa-miR-599	CLIP-seq
MIRT1021574	hsa-miR-770-5p	CLIP-seq
MIRT1021575	hsa-miR-802	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1549260	hsa-miR-2052	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT1549265	hsa-miR-3647-3p	CLIP-seq
MIRT1549266	hsa-miR-377	CLIP-seq
MIRT1549267	hsa-miR-383	CLIP-seq
MIRT1549268	hsa-miR-3978	CLIP-seq
MIRT1549269	hsa-miR-4261	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1549271	hsa-miR-4311	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1549272	hsa-miR-4438	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549273	hsa-miR-4446-5p	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT1549278	hsa-miR-4529-3p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT1549280	hsa-miR-4766-5p	CLIP-seq
MIRT1549281	hsa-miR-4790-3p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT1549283	hsa-miR-579	CLIP-seq
MIRT1549284	hsa-miR-660	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2002698	hsa-miR-3065-5p	CLIP-seq
MIRT2002699	hsa-miR-337-5p	CLIP-seq
MIRT2002700	hsa-miR-4485	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2235663	hsa-miR-1287	CLIP-seq
MIRT1021538	hsa-miR-133a	CLIP-seq
MIRT1021539	hsa-miR-133b	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021540	hsa-miR-141	CLIP-seq
MIRT2235664	hsa-miR-142-5p	CLIP-seq
MIRT2235665	hsa-miR-15a	CLIP-seq
MIRT2235666	hsa-miR-15b	CLIP-seq
MIRT2235667	hsa-miR-16	CLIP-seq
MIRT2235668	hsa-miR-18a	CLIP-seq
MIRT2235669	hsa-miR-18b	CLIP-seq
MIRT2235670	hsa-miR-1914	CLIP-seq
MIRT2235671	hsa-miR-195	CLIP-seq
MIRT1021544	hsa-miR-200a	CLIP-seq
MIRT2235672	hsa-miR-202	CLIP-seq
MIRT1021545	hsa-miR-203	CLIP-seq
MIRT1549260	hsa-miR-2052	CLIP-seq
MIRT2235673	hsa-miR-2116	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT2235674	hsa-miR-2355-3p	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2235675	hsa-miR-2681	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT2235676	hsa-miR-3135b	CLIP-seq
MIRT2235677	hsa-miR-3185	CLIP-seq
MIRT2002699	hsa-miR-337-5p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT2235678	hsa-miR-34c-3p	CLIP-seq
MIRT2235679	hsa-miR-3612	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT2235680	hsa-miR-3662	CLIP-seq
MIRT1549266	hsa-miR-377	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1021555	hsa-miR-3925-3p	CLIP-seq
MIRT2235681	hsa-miR-424	CLIP-seq
MIRT2235682	hsa-miR-425	CLIP-seq
MIRT2235683	hsa-miR-4254	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT2235684	hsa-miR-4443	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT2002700	hsa-miR-4485	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT2235685	hsa-miR-4509	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT2235686	hsa-miR-4643	CLIP-seq
MIRT2235687	hsa-miR-4646-3p	CLIP-seq
MIRT2235688	hsa-miR-466	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT2235689	hsa-miR-4677-5p	CLIP-seq
MIRT1021565	hsa-miR-4712-5p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT2235691	hsa-miR-4735-3p	CLIP-seq
MIRT1549280	hsa-miR-4766-5p	CLIP-seq
MIRT2235692	hsa-miR-4789-3p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT1549281	hsa-miR-4790-3p	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT2235694	hsa-miR-485-5p	CLIP-seq
MIRT2235695	hsa-miR-490-5p	CLIP-seq
MIRT2235696	hsa-miR-497	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1021571	hsa-miR-508-5p	CLIP-seq
MIRT2235697	hsa-miR-516a-5p	CLIP-seq
MIRT2235698	hsa-miR-561	CLIP-seq
MIRT2235699	hsa-miR-574-5p	CLIP-seq
MIRT2235700	hsa-miR-619	CLIP-seq
MIRT2235701	hsa-miR-648	CLIP-seq
MIRT2235702	hsa-miR-650	CLIP-seq
MIRT2235703	hsa-miR-676	CLIP-seq
MIRT2235704	hsa-miR-7	CLIP-seq
MIRT2235705	hsa-miR-759	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1021574	hsa-miR-770-5p	CLIP-seq
MIRT1021575	hsa-miR-802	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2388509	hsa-miR-127-5p	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2388510	hsa-miR-4278	CLIP-seq
MIRT1549271	hsa-miR-4311	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT2388511	hsa-miR-4716-3p	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT1021537	hsa-miR-1178	CLIP-seq
MIRT2429367	hsa-miR-1179	CLIP-seq
MIRT2388509	hsa-miR-127-5p	CLIP-seq
MIRT755368	hsa-miR-137	CLIP-seq
MIRT2429368	hsa-miR-2053	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021547	hsa-miR-23a	CLIP-seq
MIRT1021548	hsa-miR-23b	CLIP-seq
MIRT1021549	hsa-miR-23c	CLIP-seq
MIRT2235675	hsa-miR-2681	CLIP-seq
MIRT1021550	hsa-miR-300	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT1549265	hsa-miR-3647-3p	CLIP-seq
MIRT2429369	hsa-miR-3658	CLIP-seq
MIRT1021554	hsa-miR-381	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT1021558	hsa-miR-4419a	CLIP-seq
MIRT1021559	hsa-miR-4445	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1021563	hsa-miR-4510	CLIP-seq
MIRT1021564	hsa-miR-4666-3p	CLIP-seq
MIRT1549279	hsa-miR-4719	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT1021567	hsa-miR-4789-5p	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021568	hsa-miR-4802-5p	CLIP-seq
MIRT2235695	hsa-miR-490-5p	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2429370	hsa-miR-621	CLIP-seq
MIRT2235704	hsa-miR-7	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2450376	hsa-miR-4457	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2450377	hsa-miR-548c-3p	CLIP-seq
MIRT2465351	hsa-miR-1	CLIP-seq
MIRT2465352	hsa-miR-1299	CLIP-seq
MIRT2465353	hsa-miR-1825	CLIP-seq
MIRT2465354	hsa-miR-199a-5p	CLIP-seq
MIRT2465355	hsa-miR-199b-5p	CLIP-seq
MIRT2465356	hsa-miR-206	CLIP-seq
MIRT2465357	hsa-miR-21	CLIP-seq
MIRT1549261	hsa-miR-214	CLIP-seq
MIRT1021546	hsa-miR-216b	CLIP-seq
MIRT2465358	hsa-miR-2278	CLIP-seq
MIRT2465359	hsa-miR-297	CLIP-seq
MIRT1549262	hsa-miR-3074-3p	CLIP-seq
MIRT2465360	hsa-miR-3163	CLIP-seq
MIRT2465361	hsa-miR-3166	CLIP-seq
MIRT1021551	hsa-miR-3173-3p	CLIP-seq
MIRT1549263	hsa-miR-340	CLIP-seq
MIRT2235678	hsa-miR-34c-3p	CLIP-seq
MIRT1021552	hsa-miR-3545-5p	CLIP-seq
MIRT1021553	hsa-miR-361-3p	CLIP-seq
MIRT1549264	hsa-miR-3619-5p	CLIP-seq
MIRT2235680	hsa-miR-3662	CLIP-seq
MIRT2465362	hsa-miR-3673	CLIP-seq
MIRT2465363	hsa-miR-3941	CLIP-seq
MIRT2465364	hsa-miR-3942-3p	CLIP-seq
MIRT1549268	hsa-miR-3978	CLIP-seq
MIRT1549269	hsa-miR-4261	CLIP-seq
MIRT2465365	hsa-miR-4274	CLIP-seq
MIRT1021557	hsa-miR-4281	CLIP-seq
MIRT1549270	hsa-miR-4291	CLIP-seq
MIRT2465366	hsa-miR-4427	CLIP-seq
MIRT1549272	hsa-miR-4438	CLIP-seq
MIRT2450376	hsa-miR-4457	CLIP-seq
MIRT1549274	hsa-miR-448	CLIP-seq
MIRT1549275	hsa-miR-4494	CLIP-seq
MIRT1021561	hsa-miR-4495	CLIP-seq
MIRT2465367	hsa-miR-4519	CLIP-seq
MIRT1549276	hsa-miR-4520a-3p	CLIP-seq
MIRT1549277	hsa-miR-4520b-3p	CLIP-seq
MIRT1549278	hsa-miR-4529-3p	CLIP-seq
MIRT2235688	hsa-miR-466	CLIP-seq
MIRT2465368	hsa-miR-4672	CLIP-seq
MIRT2465369	hsa-miR-4680-3p	CLIP-seq
MIRT2235690	hsa-miR-4731-3p	CLIP-seq
MIRT2465370	hsa-miR-4762-3p	CLIP-seq
MIRT1021566	hsa-miR-4762-5p	CLIP-seq
MIRT2465371	hsa-miR-4764-3p	CLIP-seq
MIRT2465372	hsa-miR-4771	CLIP-seq
MIRT2235693	hsa-miR-4801	CLIP-seq
MIRT1021569	hsa-miR-499-3p	CLIP-seq
MIRT1021570	hsa-miR-499a-3p	CLIP-seq
MIRT1549282	hsa-miR-513b	CLIP-seq
MIRT2450377	hsa-miR-548c-3p	CLIP-seq
MIRT2465373	hsa-miR-567	CLIP-seq
MIRT2465374	hsa-miR-590-5p	CLIP-seq
MIRT2465375	hsa-miR-613	CLIP-seq
MIRT2465376	hsa-miR-640	CLIP-seq
MIRT1549284	hsa-miR-660	CLIP-seq
MIRT1549285	hsa-miR-761	CLIP-seq
MIRT2465377	hsa-miR-875-3p	CLIP-seq
MIRT2465378	hsa-miR-9	CLIP-seq
MIRT1549286	hsa-miR-922	CLIP-seq
MIRT2465364	hsa-miR-3942-3p	CLIP-seq
MIRT2465378	hsa-miR-9	CLIP-seq

Transcription factors

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Transcription factor	Regulation	Reference
STAT1	Unknown	22479354

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001967	Process	Suckling behavior	IEA
GO:0002087	Process	Regulation of respiratory gaseous exchange by nervous system process	IEA
GO:0004359	Function	Glutaminase activity	IBA
GO:0004359	Function	Glutaminase activity	IDA	22049910
GO:0004359	Function	Glutaminase activity	IEA
GO:0004359	Function	Glutaminase activity	NAS	10719215, 11015561
GO:0005515	Function	Protein binding	IPI	16899818
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	16899818
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	10719215
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IEA
GO:0006520	Process	Amino acid metabolic process	IEA
GO:0006537	Process	Glutamate biosynthetic process	IBA
GO:0006537	Process	Glutamate biosynthetic process	IDA	16899818, 22049910
GO:0006537	Process	Glutamate biosynthetic process	IEA
GO:0006537	Process	Glutamate biosynthetic process	TAS	21757002
GO:0006541	Process	Glutamine metabolic process	IEA
GO:0006543	Process	L-glutamine catabolic process	IBA
GO:0006543	Process	L-glutamine catabolic process	IDA	22049910
GO:0006543	Process	L-glutamine catabolic process	IEA
GO:0006543	Process	L-glutamine catabolic process	NAS	10719215
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0051289	Process	Protein homotetramerization	IDA	22049910
GO:0051289	Process	Protein homotetramerization	IEA
GO:0090461	Process	Intracellular glutamate homeostasis	IMP	30239721

MIM	HGNC	e!Ensembl
138280	4331	ENSG00000115419

Protein

UniProt ID

O94925

Protein name

Glutaminase kidney isoform, mitochondrial (GLS) (EC 3.5.1.2) (K-glutaminase) (L-glutamine amidohydrolase) [Cleaved into: Glutaminase kidney isoform, mitochondrial 68 kDa chain; Glutaminase kidney isoform, mitochondrial 65 kDa chain]

Protein function

Catalyzes the first reaction in the primary pathway for the renal catabolism of glutamine. Plays a role in maintaining acid-base homeostasis. Regulates the levels of the neurotransmitter glutamate, the main excitatory neurotransmitter in the bra

PDB

3CZD , 3UNW , 3UO9 , 3VOY , 3VOZ , 3VP0 , 3VP1 , 3VP2 , 3VP3 , 3VP4 , 4O7D , 5D3O , 5FI2 , 5FI6 , 5FI7 , 5HL1 , 5I94 , 5JYO , 5JYP , 5U0I , 5U0J , 5UQE , 5WJ6 , 6LOX , 6UJG , 6UJM , 6UK6 , 6UKB , 6UL9 , 6ULA , 6ULJ , 6UMC , 6UMD , 6UME , 6UMF , 7REN , 7RGG , 7SBM , 7SBN , 8BSK , 8BSL , 8BSM , 8BSN , 8GWR , 8IMA , 8IMB , 8JUB , 8JUE , 8SZJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF17959	EF-hand_14	139 → 222	EF-hand domain	Domain
PF04960	Glutaminase	244 → 530	Glutaminase	Domain
PF12796	Ank_2	557 → 649	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 3 are detected in brain cortex. Isoform 3 is highly expressed in astrocytoma, ganglioglioma and ependymoma. Isoform 1 is highly expressed in brain and kidney, but not detected in liver. Isoform 3 is highly express

Sequence

MMRLRGSGMLRDLLLRSPAGVSATLRRAQPLVTLCRRPRGGGRPAAGPAAAARLHPWWGG
GGWPAEPLARGLSSSPSEILQELGKGSTHPQPGVSPPAAPAAPGPKDGPGETDAFGNSEG
KELVASGENKIKQGLLPSLEDLLFYTIAEGQEKIPVHKFITALKSTGLRTSDPRLKECMD
MLRLTLQTTSDGVMLDKDLFKKCVQSNIVLLTQAFRRKFVIPDFMSFTSHIDELYESAKK
QSGGKVADYIPQLAKFSPDLWGVSVCTVDGQRHSTGDTKVPFCLQSCVKPLKYAIAVNDL
GTEYVHRYVGKEPSGLRFNKLFLNEDDKPHNPMVNAGAIVVTSLIKQGVNNAEKFDYVMQ
FLNKMAGNEYVGFSNATFQSERESGDRNFAIGYYLKEKKCFPEGTDMVGILDFYFQLCSI
EVTCESASVMAATLANGGFCPITGERVLSPEAVRNTLSLMHSCGMYDFSGQFAFHVGLPA
KSGVAGGILLVVPNVMGMMCWSPPLDKMGNSVKGIHFCHDLVSLCNFHNYDNLRHFAKKL
DPRREGGDQRVKSVINLLFAAYTGDVSALRRFALSAMDMEQRDYDSRTALHVAAAEGHVE
VVKFLLEACKVNPFPKDRWNNTPMDEALHFGHHDVFKILQEYQVQYTPQGDSDNGKENQT
VHKNLDGLL

Sequence length

669

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 71	rs1558971345, rs1559310284, rs1558972120	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Dermatitis	Atopic dermatitis	N/A	N/A	GWAS
Hypertension	Hypertension	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (87)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	24696726
Adenocarcinoma of Lung	Associate	37258469
Adenoma	Associate	27447554
AIDS Associated Nephropathy	Associate	22016553
Alzheimer Disease	Associate	37210557
Arthritis Rheumatoid	Associate	36050752
Asthma	Associate	17110506
Ataxia	Associate	30970188, 35913761
Autistic Disorder	Associate	29356297
Blood Coagulation Disorders	Associate	18647344
Breast Neoplasms	Associate	10620514, 12408749, 24122876, 24316975, 25683269, 28039459, 28950000, 31040181, 31983109, 32360595, 40114244
Carcinogenesis	Associate	26751560, 31734463, 37401237
Carcinoma Ductal	Associate	25053597
Carcinoma Hepatocellular	Associate	25844758, 27835669, 28970582, 35751897, 36611819, 37946141
Carcinoma Lobular	Associate	25053597
Carcinoma Non Small Cell Lung	Associate	26575584, 32718002, 35064898, 35864951
Carcinoma Renal Cell	Associate	31112866
Cholangiocarcinoma	Associate	37401237
Chondrosarcoma	Stimulate	29576625
Chondrosarcoma	Associate	37928274
Cognition Disorders	Associate	35913761
Colorectal Neoplasms	Associate	24696726, 27902968, 34671029
Congenital Disorders of Glycosylation	Associate	30389790
Death	Associate	30575854
Developmental Disabilities	Associate	30575854
Endometrial Neoplasms	Associate	37859625
Epstein Barr Virus Infections	Associate	32727118
Esophageal Squamous Cell Carcinoma	Associate	35593463, 37080995
Farber Lipogranulomatosis	Stimulate	27447554
Fibrosis	Associate	33140521
Genetic Diseases Inborn	Associate	30575854
Glioblastoma	Associate	26422827, 28218035, 33610185, 40289180
Glioma	Associate	21045145, 24096582, 24276018, 30220459, 31593589
Glutamine deficiency congenital	Associate	26894601
Head and Neck Neoplasms	Associate	28168879
Hepatic Encephalopathy	Associate	23166628
Hepatitis C	Stimulate	23636801
Hypoxia	Associate	22228304
Idiopathic Noncirrhotic Portal Hypertension	Associate	40550888
Immunologic Deficiency Syndromes	Associate	30575854, 30970188, 35913761
Infant Newborn Diseases	Associate	30575854
Inflammation	Associate	35328687
Laryngotracheal Stenosis Progressive with Short Stature and Arthropathy	Associate	31904876
Leukemia	Associate	27806325
Leukemia Myeloid Acute	Associate	24333121, 27806325, 39905290
Liver Cirrhosis	Associate	40550888
Liver Diseases	Associate	39868884, 40550888
Lung Neoplasms	Associate	25502225, 28871132, 33071215, 35864951, 37258469, 38513095
Lymphoma Large B Cell Diffuse	Associate	37934892
Lymphoma Mantle Cell	Associate	36420799
Malignant mesenchymal tumor	Associate	37192160
Medulloblastoma	Associate	35313796
Mental Disorders	Associate	21457947
Metabolic Diseases	Associate	31734463
Mitochondrial Diseases	Associate	37210557
Neoplasms	Associate	10620514, 15496140, 21110941, 22228304, 22615405, 22892846, 23935106, 24276018, 24316975, 24696726, 25026281, 25409906, 25502225, 26227854, 27447554 View all (23 more)
Neoplasms	Inhibit	39905290
Neoplasms Adipose Tissue	Associate	35328687
Neoplasms Unknown Primary	Associate	24387319
Nerve Degeneration	Associate	22016553
Neuroblastoma	Associate	28800318
Neurocognitive Disorders	Associate	22016553
Neurodegenerative Diseases	Associate	37210557
Neurotoxicity Syndromes	Associate	22016553
Obesity	Associate	35328687
Optic Atrophy	Associate	35913761
Osteoarthritis	Associate	35328687
Osteoporosis	Associate	31112871, 40091031
Osteosarcoma	Associate	30338824
Ovarian Neoplasms	Associate	26894601
Pancreatic Neoplasms	Associate	31231915, 31856624
Polyposis Syndrome Hereditary Mixed 1	Associate	12408749
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	39905290
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	31919076
Prostatic Neoplasms	Associate	31196962, 37355762, 39273225
Prostatic Neoplasms Castration Resistant	Associate	37773303
Scleroderma Systemic	Stimulate	33140521
Skin Diseases	Stimulate	33140521
Squamous Cell Carcinoma of Head and Neck	Stimulate	30899051
Squamous Cell Carcinoma of Head and Neck	Associate	33649795
Status Epilepticus	Associate	37410995
Stomach Neoplasms	Associate	37192160, 37582794
Thyroid Cancer Papillary	Associate	27447554
Thyroid Neoplasms	Associate	27447554
Triple Negative Breast Neoplasms	Associate	28950000, 33911160
Urinary Bladder Neoplasms	Associate	30902882
Wallerian degeneration of the pyramidal tract	Associate	35913761

GLS (glutaminase)