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

Gene ID: 91227, updated on 23-Nov-2021

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
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
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Genomic context

See GGTLC2 in Genome Data Viewer
Location:
22q11.22
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (22644614..22647898)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22987091..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 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

Associated conditions

Description Tests
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
involved_in proteolysis IEA
Inferred from Electronic Annotation
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)

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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_001282879.2NP_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
    UniProtKB/Swiss-Prot
    Q14390
    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
    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
    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
    Q14390
    Related
    ENSP00000415676.2, ENST00000448514.2
    Conserved Domains (1) summary
    cl19223
    Location:1213
    G_glu_transpept; Gamma-glutamyltranspeptidase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_024452301.1XP_024308069.1  glutathione hydrolase light chain 2 isoform X4

    Related
    ENSP00000419751.1, ENST00000480559.6
    Conserved Domains (1) summary
    cl19223
    Location:1213
    G_glu_transpept; Gamma-glutamyltranspeptidase
  2. 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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