GLS (glutaminase)

Gene

• Entrez ID: 2744
• Gene name: Glutaminase
• Gene symbol: GLS
• Synonyms (NCBI Gene): AAD20, CASGID, DEE71, EIEE71, GAC, GAM, GDPAG, GLS1, KGA
• Chromosome: 2
• Chromosome location: 2q32.2
• Summary: 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
STAT1	Unknown	22479354

Gene ontology (GO)

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

Other IDs

• MIM: 138280
• HGNC: 4331
• e!Ensembl: 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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Developmental and epileptic encephalopathy, 71	Pathogenic; Likely pathogenic	rs2124915767, rs2470308961, rs1558971345, rs1559310284, rs1558972120	RCV002052079 RCV003224921 RCV000757902 RCV000757903 RCV000757904	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1691037804	RCV001172291	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay, progressive ataxia, and elevated glutamine	Pathogenic	rs1558973667, rs1212883982	RCV000768668 RCV000768670	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	Likely pathogenic	rs2124851950	RCV001663394	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CASGID SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALISED EPILEPSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLS-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL EPILEPTIC ENCEPHALOPATHY DUE TO DEFICIENCY OF GLUTAMINASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL EPILEPTIC ENCEPHALOPATHY DUE TO GLUTAMINASE DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA, DYSARTHRIA DUE TO GLUTAMINASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA-DYSARTHRIA DUE TO GLUTAMINASE DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations