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Aliases for GGTLC2 Gene

Aliases for GGTLC2 Gene

  • Gamma-Glutamyltransferase Light Chain 2 2 3 5
  • Gamma-Glutamyltransferase-Like Protein 4 3 4
  • Gamma-Glutamyltransferase-Like 4 2 3
  • GGTL4 3 4
  • EC 2.3.2.2 58

External Ids for GGTLC2 Gene

Previous HGNC Symbols for GGTLC2 Gene

  • GGTL4

Previous GeneCards Identifiers for GGTLC2 Gene

  • GC22P021320
  • GC22P022986
  • GC22P005956
  • GC22P022989

Summaries for GGTLC2 Gene

Entrez Gene Summary for GGTLC2 Gene

  • 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]

GeneCards Summary for GGTLC2 Gene

GGTLC2 (Gamma-Glutamyltransferase Light Chain 2) is a Protein Coding gene. Among its related pathways are Glutathione metabolism and Metabolism. GO annotations related to this gene include gamma-glutamyltransferase activity. An important paralog of this gene is GGT1.

Additional gene information for GGTLC2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGTLC2 Gene

Genomics for GGTLC2 Gene

Regulatory Elements for GGTLC2 Gene


Genomic Location for GGTLC2 Gene

Chromosome:
22
Start:
22,644,475 bp from pter
End:
22,647,903 bp from pter
Size:
3,429 bases
Orientation:
Plus strand

Genomic View for GGTLC2 Gene

Genes around GGTLC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGTLC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGTLC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGTLC2 Gene

Proteins for GGTLC2 Gene

  • Protein details for GGTLC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14390-GGTL2_HUMAN
    Recommended name:
    Gamma-glutamyltransferase light chain 2
    Protein Accession:
    Q14390
    Secondary Accessions:
    • A1A516
    • A2VCM9
    • Q5NV76
    • Q6ISH0

    Protein attributes for GGTLC2 Gene

    Size:
    218 amino acids
    Molecular mass:
    23661 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Corresponds to the light chain of other gamma-glutamyltransferase family members. Has no catalytic activity.
    SequenceCaution:
    • Sequence=BAA20001.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA67421.1; Type=Frameshift; Positions=217; Evidence={ECO:0000305}; Sequence=CAA67421.1; Type=Miscellaneous discrepancy; Note=Contains an unspliced intron inserted in position 120.; Evidence={ECO:0000305};

neXtProt entry for GGTLC2 Gene

Selected DME Specific Peptides for GGTLC2 Gene

Q14390:
  • VVQAIVRT
  • PGKQPLSSMCP
  • ATSTINLYFGSKV
  • PSPANFI

Post-translational modifications for GGTLC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for GGTLC2 Gene

Gene Families for GGTLC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for GGTLC2 Gene

Suggested Antigen Peptide Sequences for GGTLC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14390

UniProtKB/Swiss-Prot:

GGTL2_HUMAN :
  • Belongs to the gamma-glutamyltransferase family.
Family:
  • Belongs to the gamma-glutamyltransferase family.
genes like me logo Genes that share domains with GGTLC2: view

Function for GGTLC2 Gene

Enzyme Numbers (IUBMB) for GGTLC2 Gene

Gene Ontology (GO) - Molecular Function for GGTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0036374 glutathione hydrolase activity IEA --
genes like me logo Genes that share ontologies with GGTLC2: view
genes like me logo Genes that share phenotypes with GGTLC2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GGTLC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for GGTLC2 Gene

Localization for GGTLC2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGTLC2 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GGTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with GGTLC2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for GGTLC2 Gene

Pathways & Interactions for GGTLC2 Gene

genes like me logo Genes that share pathways with GGTLC2: view

Interacting Proteins for GGTLC2 Gene

Gene Ontology (GO) - Biological Process for GGTLC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0006751 glutathione catabolic process IEA --
GO:0008150 biological_process ND --
GO:1901750 leukotriene D4 biosynthetic process ISS --
genes like me logo Genes that share ontologies with GGTLC2: view

No data available for SIGNOR curated interactions for GGTLC2 Gene

Drugs & Compounds for GGTLC2 Gene

No Compound Related Data Available

Transcripts for GGTLC2 Gene

mRNA/cDNA for GGTLC2 Gene

(7) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GGTLC2 Gene

Gamma-glutamyltransferase light chain 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for GGTLC2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for GGTLC2 Gene

No ASD Table

Relevant External Links for GGTLC2 Gene

GeneLoc Exon Structure for
GGTLC2
ECgene alternative splicing isoforms for
GGTLC2

Expression for GGTLC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGTLC2 Gene

mRNA differential expression in normal tissues according to GTEx for GGTLC2 Gene

This gene is overexpressed in Testis (x42.8).

Protein differential expression in normal tissues from HIPED for GGTLC2 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GGTLC2 Gene



Protein tissue co-expression partners for GGTLC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GGTLC2 Gene:

GGTLC2

SOURCE GeneReport for Unigene cluster for GGTLC2 Gene:

Hs.632765

mRNA Expression by UniProt/SwissProt for GGTLC2 Gene:

Q14390-GGTL2_HUMAN
Tissue specificity: Placenta and sigmoid tissues.

Evidence on tissue expression from TISSUES for GGTLC2 Gene

  • Kidney(2.3)
genes like me logo Genes that share expression patterns with GGTLC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGTLC2 Gene

Orthologs for GGTLC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for GGTLC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC100610580 33
  • 98.32 (n)
GGTLC2 34
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
ManyToMany
-- 34
  • 1 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 31 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 30 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ggt1 34
  • 29 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 24 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 23 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ggt1a 34
  • 23 (a)
ManyToMany
ggt1b 34
  • 20 (a)
ManyToMany
ggt1l2.2 34
  • 16 (a)
ManyToMany
si:dkey-222h21.12 34
  • 16 (a)
ManyToMany
si:ch73-236c18.3 34
  • 14 (a)
ManyToMany
ggt1l2.1 34
  • 13 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG1492 34
  • 12 (a)
ManyToMany
CG4829 34
  • 9 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea C53D5.5 34
  • 16 (a)
ManyToMany
Y7A9A.1 34
  • 14 (a)
ManyToMany
H14N18.4 34
  • 13 (a)
ManyToMany
T03D8.6 34
  • 11 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ECM38 34
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
ManyToMany
CSA.7538 34
  • 18 (a)
ManyToMany
Species where no ortholog for GGTLC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for GGTLC2 Gene

ENSEMBL:
Gene Tree for GGTLC2 (if available)
TreeFam:
Gene Tree for GGTLC2 (if available)

Paralogs for GGTLC2 Gene

Paralogs for GGTLC2 Gene

(6) SIMAP similar genes for GGTLC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with GGTLC2: view

Variants for GGTLC2 Gene

Sequence variations from dbSNP and Humsavar for GGTLC2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs1001823903 -- 22,645,103(+) TAGCC(A/T)GGATG intron-variant, upstream-variant-2KB
rs1002101936 -- 22,642,821(+) TGGTC(C/T)GGGAG nc-transcript-variant, upstream-variant-2KB
rs1002273401 -- 22,648,152(+) CTACC(A/T)AGGAT intron-variant, downstream-variant-500B
rs1002772637 -- 22,646,148(+) AATGC(A/G)ACAGA intron-variant, upstream-variant-2KB
rs1005513690 -- 22,643,581(+) CTGGG(A/T)GTGAC nc-transcript-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for GGTLC2 Gene

Variant ID Type Subtype PubMed ID
dgv38n64 CNV loss 17921354
dgv39n64 CNV loss 17921354
dgv4505n100 CNV loss 25217958
dgv4506n100 CNV loss 25217958
dgv4507n100 CNV loss 25217958
dgv4511n100 CNV gain 25217958
dgv4512n100 CNV loss 25217958
dgv4513n100 CNV gain 25217958
dgv548n27 CNV loss 19166990
dgv550n27 CNV loss 19166990
dgv551n27 CNV loss 19166990
dgv555n27 CNV loss 19166990
dgv557n27 CNV loss 19166990
dgv560n27 CNV loss 19166990
dgv731n67 CNV loss 20364138
dgv8004n54 CNV loss 21841781
dgv8005n54 CNV loss 21841781
dgv8010n54 CNV loss 21841781
dgv8015n54 CNV loss 21841781
dgv826e214 CNV loss 21293372
esv2662193 CNV deletion 23128226
esv3568289 CNV loss 25503493
esv3647375 CNV loss 21293372
nsv1057397 CNV loss 25217958
nsv1063128 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv1066925 CNV gain+loss 25217958
nsv1145933 CNV duplication 26484159
nsv433337 CNV loss 18776910
nsv438338 CNV loss 16468122
nsv459553 CNV loss 19166990
nsv469742 CNV gain+loss 16826518
nsv514963 CNV gain+loss 21397061
nsv588472 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv817937 CNV loss 17921354
nsv819428 CNV gain 19587683
nsv821694 CNV loss 15273396
nsv828979 CNV gain+loss 20364138
nsv834151 CNV loss 17160897
nsv953048 CNV deletion 24416366
nsv966084 CNV duplication 23825009

Variation tolerance for GGTLC2 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.15; 84.69% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GGTLC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGTLC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGTLC2 Gene

Disorders for GGTLC2 Gene

Relevant External Links for GGTLC2

Human Genome Epidemiology (HuGE) Navigator
GGTLC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GGTLC2

No disorders were found for GGTLC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GGTLC2 Gene

Publications for GGTLC2 Gene

  1. The human gamma-glutamyltransferase gene family. (PMID: 18357469) Heisterkamp N … Sneddon TP (Human genetics 2008) 2 3 4 60
  2. One-megabase sequence analysis of the human immunoglobulin lambda gene locus. (PMID: 9074928) Kawasaki K … Shimizu N (Genome research 1997) 2 3 4 60
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 4 60
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 60
  5. Cloning and expression of a novel type (III) of human gamma-glutamyltransferase truncated mRNA. (PMID: 8830654) Leh H … Visvikis A (FEBS letters 1996) 3 4 60

Products for GGTLC2 Gene

Sources for GGTLC2 Gene

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