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

    Gene ID: 91227, updated on 10-Dec-2024

    Summary

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    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
    all
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    Genomic context

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    See GGTLC2 in Genome Data Viewer
    Location:
    22q11.22
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (22644614..22647898)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (23067311..23070916)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Cloning and expression of a novel type (III) of human gamma-glutamyltransferase truncated mRNA. Leh H, et al. FEBS Lett, 1996 Oct 7. PMID 8830654
    2. Human lung expresses unique gamma-glutamyl transpeptidase transcripts. Wetmore LA, et al. Proc Natl Acad Sci U S A, 1993 Aug 15. PMID 7689219, Free PMC Article
    3. The human gamma-glutamyltransferase gene family. Heisterkamp N, et al. Hum Genet, 2008 May. PMID 18357469
    4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. Chambers JC, et al. Nat Genet, 2011 Oct 16. PMID 22001757, Free PMC Article
    5. One-megabase sequence analysis of the human immunoglobulin lambda gene locus. Kawasaki K, et al. Genome Res, 1997 Mar. PMID 9074928

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC96916

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables glutathione hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    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

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

    NCBI Reference Sequences (RefSeq)

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    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_001282879.2 → NP_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:1 → 247
      G_glu_transpept; Gamma-glutamyltranspeptidase

    2. NM_001391910.1 → NP_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:1 → 247
      G_glu_transpept; Gamma-glutamyltranspeptidase

    3. NM_001391911.1 → NP_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:1 → 247
      G_glu_transpept; Gamma-glutamyltranspeptidase

    4. NM_199127.3 → NP_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:1 → 213
      G_glu_transpept; Gamma-glutamyltranspeptidase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_047441586.1 → XP_047297542.1  glutathione hydrolase light chain 2 isoform X1

      UniProtKB/TrEMBL
      A0A494C1J8, Q6ISU8

    2. XM_011530497.1 → XP_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:1 → 247
      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_054326110.1 → XP_054182085.1  glutathione hydrolase light chain 2 isoform X1

      UniProtKB/TrEMBL
      Q6ISU8

    2. XM_054326109.1 → XP_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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14390.4 GenPept UniProtKB/Swiss-Prot:Q14390

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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