Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CASGID, DEE71, GDPAG
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Transcription factors
Transcription factor Regulation Reference
STAT1 Unknown 22479354
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0004359 Function Glutaminase activity IDA 22049910
GO:0004359 Function Glutaminase activity NAS 10719215, 11015561
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
Sequence length 669
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hypertension Hypertension GWAS
Crohn Disease Crohn Disease GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Dermatitis Dermatitis GWAS
Associations from Text Mining
Disease Name Relationship Type References
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