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

Gene ID: 91227, updated on 3-Apr-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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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

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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 (10) 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)

Genotypes

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 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

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

    UniProtKB/TrEMBL
    A0A494C1J8

  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

  2. XM_054326109.1 → XP_054182084.1  glutathione hydrolase light chain 2 isoform X1

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

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