GSTA3

glutathione S-transferase alpha 3, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 6:52896638-52909698

Links

ENSG00000174156 ∙ NCBI:2940 ∙ OMIM:605449 ∙ HGNC:4628 ∙ Uniprot:Q16772 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTA3 gene.

• Inborn genetic diseases (8 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTA3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			8		3	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	3

Variants in GSTA3

This is a list of pathogenic ClinVar variants found in the GSTA3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-52896853-C-T			Benign (Aug 15, 2018)
6-52896860-C-G		not specified	Uncertain significance (Dec 12, 2023)
6-52896870-C-G			Benign (May 19, 2018)
6-52897890-C-T		not specified	Uncertain significance (Aug 12, 2021)
6-52897894-G-T		not specified	Uncertain significance (Feb 11, 2022)
6-52897940-C-T		not specified	Uncertain significance (Dec 12, 2022)
6-52899959-C-A		not specified	Uncertain significance (Mar 29, 2022)
6-52899972-C-G		not specified	Uncertain significance (Dec 21, 2023)
6-52899977-A-G		not specified	Uncertain significance (Jun 13, 2022)
6-52900068-T-C		not specified	Uncertain significance (Oct 20, 2023)
6-52900070-T-C		not specified	Uncertain significance (Jul 19, 2023)
6-52900073-A-G		not specified	Uncertain significance (Oct 21, 2021)
6-52902401-T-C			Benign (May 19, 2018)
6-52902441-C-G		not specified	Uncertain significance (Mar 04, 2024)
6-52903693-A-G		not specified	Uncertain significance (Jan 29, 2024)
6-52905797-C-T		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTA3	protein_coding	protein_coding	ENST00000211122	6	13047

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00129	0.868	125696	2	50	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.424	131	118	1.11	0.00000588	1459
Missense in Polyphen		21	20	1.05		249
Synonymous	-0.903	50	42.5	1.18	0.00000217	408
Loss of Function	1.31	6	10.6	0.567	5.11e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000297	0.000297
Ashkenazi Jewish	0.00209	0.00209
East Asian	0.00	0.00
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000441	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.000588	0.000523
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Catalyzes isomerization reactions that contribute to the biosynthesis of steroid hormones. Efficiently catalyze obligatory double-bond isomerizations of delta(5)-androstene-3,17-dione and delta(5)- pregnene-3,20-dione, precursors to testosterone and progesterone, respectively. {ECO:0000269|PubMed:15595823, ECO:0000269|PubMed:20083122}.
• Pathway: Glutathione metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - other enzymes - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Nuclear Receptors Meta-Pathway;NRF2 pathway;Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism;4-hydroxy-2-nonenal detoxification (Consensus)

Intolerance Scores

• loftool: 0.755
• rvis_EVS: 0.6
• rvis_percentile_EVS: 82.66

Haploinsufficiency Scores

• pHI: 0.0589
• hipred: N
• hipred_score: 0.158
• ghis: 0.403

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0637

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gsta3
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype

Gene ontology

• Biological process: glutathione metabolic process;glutathione derivative biosynthetic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: glutathione transferase activity