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GGTLC2 gamma-glutamyltransferase light chain 2 [ Homo sapiens (human) ]

Gene ID: 91227, updated on 31-Mar-2018
Official Symbol
GGTLC2provided by HGNC
Official Full Name
gamma-glutamyltransferase light chain 2provided by HGNC
Primary source
HGNC:HGNC:18596
See related
Ensembl:ENSG00000100121 MIM:612339; Vega:OTTHUMG00000151177
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GGTL4
Summary
This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. [provided by RefSeq, Sep 2013]
Expression
Biased expression in kidney (RPKM 20.2), testis (RPKM 15.1) and 10 other tissues See more
Orthologs
See GGTLC2 in Genome Data Viewer
Location:
22q11.22
Exon count:
6
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (22644620..22647898)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22987059..22990368)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene immunoglobulin lambda variable 3-30 (pseudogene) Neighboring gene POM121 transmembrane nucleoporin like 1, pseudogene Neighboring gene gamma-glutamyltransferase-like activity 1 pseudogene Neighboring gene immunoglobulin lambda variable 3-29 (pseudogene) Neighboring gene breakpoint cluster region pseudogene 4

  • 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 Jun 15 11:32:44 2016

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
NHGRI GWA Catalog
  • Aflatoxin activation and detoxification, organism-specific biosystem (from REACTOME)
    Aflatoxin activation and detoxification, organism-specific biosystemAflatoxins are among the principal mycotoxins produced as secondary metabolites by the molds Aspergillus flavus and Aspergillus parasiticus that contaminate economically important food and feed crops...
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  • Biological oxidations, organism-specific biosystem (from REACTOME)
    Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
  • Eicosanoid Synthesis, organism-specific biosystem (from WikiPathways)
    Eicosanoid Synthesis, organism-specific biosystemIn biochemistry, eicosanoids are signaling molecules made by oxidation of twenty-carbon essential fatty acids, (EFAs). They exert complex control over many bodily systems, mainly in inflammation or i...
  • Glutathione conjugation, organism-specific biosystem (from REACTOME)
    Glutathione conjugation, organism-specific biosystemGlutathione S-Transferases (GSTs; EC 2.5.1.18) are another major set of phase II conjugation enzymes. They can be found in the cytosol as well as being microsomal membrane-bound. Cytosolic GSTs are e...
  • Glutathione metabolism, organism-specific biosystem (from WikiPathways)
    Glutathione metabolism, organism-specific biosystem
    Glutathione metabolism
  • Glutathione synthesis and recycling, organism-specific biosystem (from REACTOME)
    Glutathione synthesis and recycling, organism-specific biosystemThe combination of glutamate, cysteine and ATP is required to form glutathione. The steps involved in the synthesis and recycling of glutathione are outlined (Meister, 1988).
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • NRF2 pathway, organism-specific biosystem (from WikiPathways)
    NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
  • Phase II conjugation, organism-specific biosystem (from REACTOME)
    Phase II conjugation, organism-specific biosystemPhase II of biotransformation is concerned with conjugation, that is using groups from cofactors to react with functional groups present or introduced from phase I on the compound. The enzymes involv...
  • Selenium Micronutrient Network, organism-specific biosystem (from WikiPathways)
    Selenium Micronutrient Network, organism-specific biosystem
    Selenium Micronutrient Network
  • Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystem (from REACTOME)
    Synthesis of Leukotrienes (LT) and Eoxins (EX), organism-specific biosystemLeukotrienes (LTs) are biologically active molecules formed in response to inflammatory stimuli. They cause contraction of bronchial smooth muscles, stimulation of vascular permeability, and attracti...

Markers

Clone Names

  • MGC96916

Gene Ontology Provided by GOA

Function Evidence Code Pubs
glutathione hydrolase activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
glutathione catabolic process IEA
Inferred from Electronic Annotation
more info
 
leukotriene D4 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
Preferred Names
glutathione hydrolase light chain 2
Names
gamma-glutamyltransferase-like 4
gamma-glutamyltransferase-like protein 4

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.

Genomic

  1. NG_000002.1 

    Range
    611075..614352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001282879.1NP_001269808.1  glutathione hydrolase light chain 2 isoform 3

    See identical proteins and their annotated locations for NP_001269808.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and contains an alternate in-frame segment in the central coding region, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AC244250, HY050283, X98922
    UniProtKB/Swiss-Prot
    Q14390
    Related
    ENSP00000483019.1, ENST00000618722.4
    Conserved Domains (1) summary
    cl19223
    Location:1247
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. NM_199127.2NP_954578.2  glutathione hydrolase light chain 2 isoform 1

    See identical proteins and their annotated locations for NP_954578.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC244250, AI138829, BX282400, EL736203
    Consensus CDS
    CCDS13802.2
    UniProtKB/Swiss-Prot
    Q14390
    Related
    ENSP00000419751.1, OTTHUMP00000199322, ENST00000480559.5, OTTHUMT00000321662
    Conserved Domains (1) summary
    cl19223
    Location:1213
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

    Range
    22644620..22647898
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005261817.3XP_005261874.1  glutathione hydrolase light chain 2 isoform X2

    See identical proteins and their annotated locations for XP_005261874.1

    Conserved Domains (1) summary
    cl19223
    Location:1247
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. XM_024452301.1XP_024308069.1  glutathione hydrolase light chain 2 isoform X4

    Conserved Domains (1) summary
    cl19223
    Location:1213
    G_glu_transpept; Gamma-glutamyltranspeptidase
  3. XM_005261815.3XP_005261872.2  glutathione hydrolase light chain 2 isoform X1

    Conserved Domains (1) summary
    cl19223
    Location:21270
    G_glu_transpept; Gamma-glutamyltranspeptidase
  4. XM_005261818.2XP_005261875.1  glutathione hydrolase light chain 2 isoform X3

    Conserved Domains (1) summary
    cl19223
    Location:21236
    G_glu_transpept; Gamma-glutamyltranspeptidase
  5. XM_011530497.1XP_011528799.1  glutathione hydrolase light chain 2 isoform X2

    See identical proteins and their annotated locations for XP_011528799.1

    Conserved Domains (1) summary
    cl19223
    Location:1247
    G_glu_transpept; Gamma-glutamyltranspeptidase

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_080839.4: Suppressed sequence

    Description
    NM_080839.4: This RefSeq was permanently suppressed because currently there is not sufficient data to support this transcript.
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