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GLS2 glutaminase 2 [ Homo sapiens (human) ]

Gene ID: 27165, updated on 21-Dec-2019

Summary

Official Symbol
GLS2provided by HGNC
Official Full Name
glutaminase 2provided by HGNC
Primary source
HGNC:HGNC:29570
See related
Ensembl:ENSG00000135423 MIM:606365
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GA; GLS; LGA; hLGA
Summary
The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]
Expression
Biased expression in liver (RPKM 39.1), brain (RPKM 4.2) and 2 other tissues See more
Orthologs

Genomic context

See GLS2 in Genome Data Viewer
Location:
12q13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56470944..56488414, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56864728..56882198, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene timeless circadian regulator Neighboring gene major intrinsic protein of lens fiber Neighboring gene SPRY domain containing 4 Neighboring gene small nucleolar RNA, H/ACA box 105C Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 4 Neighboring gene RNA binding motif single stranded interacting protein 2 Neighboring gene RNA, U6 small nuclear 343, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
NHGRI GWA Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
NHGRI GWA Catalog
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC71567

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutaminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular amino acid biosynthetic process TAS
Traceable Author Statement
more info
 
cellular amino acid metabolic process TAS
Traceable Author Statement
more info
PubMed 
glutamate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glutamate secretion TAS
Traceable Author Statement
more info
 
glutamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
glutaminase liver isoform, mitochondrial
Names
L-glutamine amidohydrolase
breast cell glutaminase
glutaminase 2 (liver, mitochondrial)
glutaminase I
phosphate-activated glutaminase
phosphate-dependent glutaminase
NP_001267725.1
NP_001267726.1
NP_001267727.1
NP_037399.2
XP_005268854.1
XP_016874669.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001280796.2NP_001267725.1  glutaminase liver isoform, mitochondrial isoform 3

    See identical proteins and their annotated locations for NP_001267725.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding region, uses an alternate start codon, and uses an alternate in-frame splice site in the 5' coding region compared to variant 1. It encodes isoform 3 which has a distinct and shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AI241400, BC048344
    Conserved Domains (4) summary
    cd00204
    Location:214299
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam13637
    Location:244296
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:214240
    ANK; ANK repeat [structural motif]
    cl00907
    Location:35187
    Glutaminase; Glutaminase
  2. NM_001280797.1NP_001267726.1  glutaminase liver isoform, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001267726.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1. Both variants 4 and 5 encode the same isoform (4).
    Source sequence(s)
    AI241400, BC025661, DA180204
    Consensus CDS
    CCDS73482.1
    UniProtKB/TrEMBL
    A0A087X004
    Related
    ENSP00000485315.1, ENST00000623608.3
    Conserved Domains (4) summary
    cd00204
    Location:225310
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:1198
    Glutaminase; Glutaminase
    pfam13637
    Location:255307
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:225251
    ANK; ANK repeat [structural motif]
  3. NM_001280798.1NP_001267727.1  glutaminase liver isoform, mitochondrial isoform 4

    See identical proteins and their annotated locations for NP_001267727.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and uses a downstream start codon compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1. Both variants 4 and 5 encode the same isoform (4).
    Source sequence(s)
    AF110331, AI241400, DA060302, DA180204
    Consensus CDS
    CCDS73482.1
    UniProtKB/Swiss-Prot
    Q9UI32
    UniProtKB/TrEMBL
    A0A087X004
    Related
    ENSP00000483010.1, ENST00000610413.4
    Conserved Domains (4) summary
    cd00204
    Location:225310
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:1198
    Glutaminase; Glutaminase
    pfam13637
    Location:255307
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:225251
    ANK; ANK repeat [structural motif]
  4. NM_013267.4NP_037399.2  glutaminase liver isoform, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_037399.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF110331, AF223944
    Consensus CDS
    CCDS8921.1
    UniProtKB/Swiss-Prot
    Q9UI32
    Related
    ENSP00000310447.4, ENST00000311966.9
    Conserved Domains (4) summary
    cd00204
    Location:490575
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:177463
    Glutaminase; Glutaminase
    pfam13637
    Location:520572
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:490516
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    56470944..56488414 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019180.1XP_016874669.1  glutaminase liver isoform, mitochondrial isoform X2

    UniProtKB/TrEMBL
    A0A087X004
    Conserved Domains (4) summary
    cd00204
    Location:225310
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:1198
    Glutaminase; Glutaminase
    pfam13637
    Location:255307
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:225251
    ANK; ANK repeat [structural motif]
  2. XM_005268797.1XP_005268854.1  glutaminase liver isoform, mitochondrial isoform X1

    Conserved Domains (4) summary
    cd00204
    Location:454539
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    pfam04960
    Location:141427
    Glutaminase; Glutaminase
    pfam13637
    Location:484536
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:454480
    ANK; ANK repeat [structural motif]

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_138566.1: Suppressed sequence

    Description
    NM_138566.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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