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

    Gene ID: 91227, updated on 17-Jun-2024

    Summary

    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; AllianceGenome:HGNC:18596
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GGTLC2 in Genome Data Viewer
    Location:
    22q11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22644614..22647898)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23067311..23070916)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22987085..22990368)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene immunoglobulin lambda locus Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22981520-22981708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22993399-22994373 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 BCR pseudogene 4

    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

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC96916

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in glutathione catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in leukotriene D4 biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    glutathione hydrolase light chain 2
    Names
    gamma-glutamyltransferase-like 4
    gamma-glutamyltransferase-like protein 4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001282879.2NP_001269808.1  glutathione hydrolase light chain 2 isoform 3

      See identical proteins and their annotated locations for NP_001269808.1

      Status: VALIDATED

      Source sequence(s)
      AC244250
      Consensus CDS
      CCDS93129.1
      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8
      Related
      ENSP00000499086.1, ENST00000417145.2
      Conserved Domains (1) summary
      cl19223
      Location:1247
      G_glu_transpept; Gamma-glutamyltranspeptidase
    2. NM_001391910.1NP_001378839.1  glutathione hydrolase light chain 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC244250
      Consensus CDS
      CCDS93129.1
      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8
      Conserved Domains (1) summary
      cl19223
      Location:1247
      G_glu_transpept; Gamma-glutamyltranspeptidase
    3. NM_001391911.1NP_001378840.1  glutathione hydrolase light chain 2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC244250
      Consensus CDS
      CCDS93129.1
      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8
      Conserved Domains (1) summary
      cl19223
      Location:1247
      G_glu_transpept; Gamma-glutamyltranspeptidase
    4. NM_199127.3NP_954578.2  glutathione hydrolase light chain 2 isoform 1

      See identical proteins and their annotated locations for NP_954578.2

      Status: VALIDATED

      Source sequence(s)
      AC244250
      Consensus CDS
      CCDS13802.2
      UniProtKB/Swiss-Prot
      A1A516, A2VCM9, Q14390, Q5NV76, Q6ISH0
      UniProtKB/TrEMBL
      B5MC36
      Related
      ENSP00000415676.2, ENST00000448514.3
      Conserved Domains (1) summary
      cl19223
      Location:1213
      G_glu_transpept; Gamma-glutamyltranspeptidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      22644614..22647898
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441586.1XP_047297542.1  glutathione hydrolase light chain 2 isoform X1

      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8
    2. XM_011530497.1XP_011528799.1  glutathione hydrolase light chain 2 isoform X1

      See identical proteins and their annotated locations for XP_011528799.1

      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8
      Conserved Domains (1) summary
      cl19223
      Location:1247
      G_glu_transpept; Gamma-glutamyltranspeptidase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      23067311..23070916
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326110.1XP_054182085.1  glutathione hydrolase light chain 2 isoform X1

      UniProtKB/TrEMBL
      Q6ISU8
    2. XM_054326109.1XP_054182084.1  glutathione hydrolase light chain 2 isoform X1

      UniProtKB/TrEMBL
      Q6ISU8

    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.