GSTT2B

glutathione S-transferase theta 2B, the group of Soluble glutathione S-transferases

Basic information

Region (hg38): 22:23957413-23961195

Links

ENSG00000133433 ∙ NCBI:653689 ∙ ∙ HGNC:33437 ∙ Uniprot:P0CG30 ∙ 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 GSTT2B gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTT2B 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in GSTT2B

This is a list of pathogenic ClinVar variants found in the GSTT2B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-23958409-C-T		not specified	Uncertain significance (Sep 26, 2023)
22-23958564-G-A		not specified	Uncertain significance (Dec 20, 2021)
22-23958571-C-T		not specified	Uncertain significance (Feb 13, 2024)
22-23958576-G-A		not specified	Uncertain significance (Sep 20, 2023)
22-23958621-C-T		not specified	Uncertain significance (Nov 14, 2023)
22-23960293-C-T		Megalencephalic leukoencephalopathy with subcortical cysts 1	Likely pathogenic (Mar 25, 2024)
22-23960298-C-T		not specified	Uncertain significance (Oct 26, 2021)
22-23960309-A-G		not specified	Uncertain significance (Nov 03, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTT2B	protein_coding	protein_coding	ENST00000290765	5	3773

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.722	0.266	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.719	33	46.9	0.704	0.00000238	1523
Missense in Polyphen		10	16.73	0.59772		511
Synonymous	0.510	17	19.9	0.854	0.00000111	485
Loss of Function	1.90	0	4.22	0.00	1.80e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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);Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism (Consensus)

Recessive Scores

• pRec: 0.106

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.238

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.292

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