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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GGTLC2
gamma-glutamyltransferase light chain 2
Chromosome 22 · 22q11.22
NCBI Gene: 91227Ensembl: ENSG00000100121.14HGNC: HGNC:18596UniProt: A0A494C1J8
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomeleukotriene D4 biosynthetic processglutathione gamma-glutamate hydrolase46,XX gonadal dysgenesismultiple epiphyseal dysplasia, with severe proximal femoral dysplasiaKallmann syndromeAcromesomelic dysplasia, Grebe type
✦AI Summary

GGTLC2 (gamma-glutamyltransferase light chain 2) is a light chain-encoding gene of the extended GGT family located on chromosome 22 1. While the canonical GGT1 functions as an extracellular enzyme critical for glutathione metabolism and leukotriene LTC4-to-LTD4 conversion 1, GGTLC2's specific enzymatic role remains uncharacterized 1. However, emerging evidence demonstrates significant disease relevance. GGTLC2 is highly expressed in gastric cancer (GC) and promotes tumor progression through ferroptosis inhibition, with upregulation associated with liver metastasis and poor prognosis 2. Functionally, GGTLC2 enriches in oxidative stress and immune pathways, modulating immune infiltration and inflammatory factor expression in the tumor microenvironment 2. GGTLC2 knockdown inhibits GC proliferation and migration while promoting apoptosis and ferroptosis, whereas overexpression increases hepatic metastatic burden 2. Beyond gastric cancer, GGTLC2 serves as a prognostic antioxidant gene signature component in sarcoma, predicting overall and disease-free survival 3. Additionally, GGTLC2 deletion at 22q11 occurs in ~15% of chr22 lymphocytic leukemia cases with reduced mRNA expression correlating with deletion status 4. These findings establish GGTLC2 as a promising biomarker for cancer diagnosis and prognosis across multiple malignancies.

Sources cited
1
GGTLC2 is highly expressed in gastric cancer, associated with ferroptosis inhibition, liver metastasis, and poor prognosis; knockdown promotes apoptosis and ferroptosis while inhibiting invasion
PMID: 40397220
2
GGTLC2 encodes a light chain portion of GGT family; canonical GGT1 functions in glutathione metabolism and LTC4-to-LTD4 conversion; GGTLC2's enzymatic activity remains uncharacterized
PMID: 18357469
3
GGTLC2 is part of a six-gene antioxidant signature that predicts disease-free survival in sarcoma patients
PMID: 35143416
4
GGTLC2 is located in the minimally deleted region of chromosome 22q11 in ~15% of chronic lymphocytic leukemia cases with significantly reduced mRNA expression
PMID: 19027161
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
46,XX gonadal dysgenesisOpen Targets
0.05Suggestive
multiple epiphyseal dysplasia, with severe proximal femoral dysplasiaOpen Targets
0.05Suggestive
Kallmann syndromeOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
AcheiropodiaOpen Targets
0.05Suggestive
multiple epiphyseal dysplasiaOpen Targets
0.05Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.05Suggestive
Absent tibia - polydactylyOpen Targets
0.05Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.05Suggestive
multiple epiphyseal dysplasia type 4Open Targets
0.05Suggestive
Hypergonadotropic hypogonadism - cataract syndromeOpen Targets
0.05Suggestive
hypergonadotropic hypogonadism-cataract syndromeOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
spondyloepimetaphyseal dysplasia, Missouri typeOpen Targets
0.05Suggestive
spondylometaphyseal dysplasia, 'corner fracture' typeOpen Targets
0.05Suggestive
atelosteogenesis type IIIOpen Targets
0.05Suggestive
Metaphyseal chondrodysplasia, Schmid typeOpen Targets
0.05Suggestive
Schmid metaphyseal chondrodysplasiaOpen Targets
0.05Suggestive
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalismOpen Targets
0.05Suggestive
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndromeOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GGTLC3Shared pathway100%GGTLC1Shared pathway100%GGT6Protein interaction69%GGTA1Shared pathway50%GGT7Shared pathway50%OPLAHShared pathway50%
Tissue Expression6 tissues
Lung
100%
Liver
20%
Bone Marrow
10%
Ovary
10%
Heart
0%
Brain
0%
Gene Interaction Network
Click a node to explore
GGTLC2GGTLC3GGTLC1GGT6GGTA1GGT7OPLAH
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q14390
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.49–1.24]
RankingsWhere GGTLC2 stands among ~20K protein-coding genes
  • #16,765of 20,598
    Most Researched11
  • #13,074of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedGGTLC2
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
The ferroptosis-related gene GGTLC2 is identified as a novel biomarker for gastric cancer within the GGT family, with associations to immune infiltration and liver metastasis.
PMID: 40397220
Funct Integr Genomics · 2025
1.00
2
The human gamma-glutamyltransferase gene family.
PMID: 18357469
Hum Genet · 2008
0.83
3
A web-based calculator for predicting the prognosis of patients with sarcoma on the basis of antioxidant gene signatures.
PMID: 35143416
Aging (Albany NY) · 2022
0.67
4
Array CGH analysis of chronic lymphocytic leukemia reveals frequent cryptic monoallelic and biallelic deletions of chromosome 22q11 that include the PRAME gene.
PMID: 19027161
Leuk Res · 2009
0.50
5
Detection of a deletion at 22q11 locus involving ZNF280A/ZNF280B/PRAME/GGTLC2 in B-cell malignancies: simply a consequence of an immunoglobulin lambda light chain rearrangement.
PMID: 30989644
Br J Haematol · 2019
0.33