GSTT2

glutathione S-transferase theta 2 (gene/pseudogene), the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 22:23980057-23983915

Links

ENSG00000099984 ∙ NCBI:2953 ∙ OMIM:600437 ∙ HGNC:4642 ∙ Uniprot:P0CG29 ∙ 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 GSTT2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTT2 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTT2	protein_coding	protein_coding	ENST00000215780	5	3768

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0150	0.704	90355	47	35189	125591	0.152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.892	30	47.3	0.635	0.00000262	1540
Missense in Polyphen		9	16.189	0.55592		515
Synonymous	0.272	18	19.5	0.922	0.00000111	493
Loss of Function	0.648	3	4.48	0.670	1.92e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.171	0.175
Ashkenazi Jewish	0.147	0.159
East Asian	0.296	0.359
Finnish	0.114	0.121
European (Non-Finnish)	0.145	0.157
Middle Eastern	0.296	0.359
South Asian	0.139	0.150
Other	0.138	0.148

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. Has a sulfatase activity.
• 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);Glutathione metabolism;Nuclear Receptors Meta-Pathway;NRF2 pathway;Oxidative Stress;Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.0834

Haploinsufficiency Scores

• pHI: 0.100
• hipred: N
• hipred_score: 0.238

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.235

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gstt2
• Phenotype: normal phenotype

Gene ontology

• Biological process: glutathione metabolic process
• Cellular component: cytoplasm;extracellular exosome
• Molecular function: glutathione transferase activity