GSTA2

glutathione S-transferase alpha 2, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 6:52750087-52763475

Previous symbols: [ "GST2" ]

Links

ENSG00000244067 ∙ NCBI:2939 ∙ OMIM:138360 ∙ HGNC:4627 ∙ Uniprot:P09210 ∙ 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 GSTA2 gene.

• not_specified (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTA2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000846.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	5		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	18	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTA2	protein_coding	protein_coding	ENST00000493422	6	13471

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.56e-7	0.168	125641	1	105	125747	0.000422

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.50	162	116	1.39	0.00000574	1466
Missense in Polyphen		29	19.759	1.4677		258
Synonymous	-2.77	61	39.0	1.56	0.00000178	395
Loss of Function	-0.0505	10	9.83	1.02	4.11e-7	132

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000521	0.000521
Ashkenazi Jewish	0.00558	0.00477
East Asian	0.000435	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000241	0.000237
Middle Eastern	0.000435	0.000435
South Asian	0.0000653	0.0000653
Other	0.000864	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles.
• 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);Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics;Aryl Hydrocarbon Receptor Pathway;Constitutive Androstane Receptor Pathway;Pregnane X Receptor pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Transcriptional activation by NRF2;Liver steatosis AOP;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;oxidative stress induced gene expression via nrf2;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism (Consensus)

Intolerance Scores

• loftool: 0.846
• rvis_EVS: 0.95
• rvis_percentile_EVS: 90.06

Haploinsufficiency Scores

• pHI: 0.0583
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.246

Gene Damage Prediction

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

Gene ontology

• Biological process: glutathione metabolic process;epithelial cell differentiation;interleukin-12-mediated signaling pathway;glutathione derivative biosynthetic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: glutathione transferase activity;protein binding