GSTM3

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

Basic information

Region (hg38): 1:109733932-109741038

Links

ENSG00000134202

∙ NCBI:2947 ∙ OMIM:138390 ∙ HGNC:4635 ∙ Uniprot:P21266 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

cystic fibrosis (Supportive), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GSTM3 gene.

not_specified (19 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSTM3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000849.5. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			19 clinvar			19
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	19	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSTM3	protein_coding	protein_coding	ENST00000540225	8	7831

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.36e-7	0.620	125715	0	33	125748	0.000131

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.936	99	129	0.768	0.00000678	1488
Missense in Polyphen		17	36.003	0.47218		408
Synonymous	-0.173	48	46.5	1.03	0.00000227	385
Loss of Function	1.04	12	16.6	0.724	9.35e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000326	0.000326
South Asian	0.000327	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Conjugation of reduced glutathione to a wide number of exogenous and endogenous hydrophobic electrophiles. May govern uptake and detoxification of both endogenous compounds and xenobiotics at the testis and brain blood barriers. {ECO:0000269|PubMed:10587441}.;
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;Exercise-induced Circadian Regulation;Metapathway biotransformation Phase I and II;Glutathione conjugation;Phase II - Conjugation of compounds;glutathione-mediated detoxification;Biological oxidations;Metabolism (Consensus)

Recessive Scores

pRec: 0.346

Intolerance Scores

loftool: 0.827
rvis_EVS: 0.46
rvis_percentile_EVS: 78.28

Haploinsufficiency Scores

pHI: 0.344
hipred: N
hipred_score: 0.248
ghis: 0.413

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.784

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Gstm5
Phenotype

Gene ontology

Biological process: glutathione metabolic process;establishment of blood-nerve barrier;nitrobenzene metabolic process;xenobiotic catabolic process;response to estrogen;cellular detoxification of nitrogen compound;glutathione derivative biosynthetic process
Cellular component: nucleus;cytoplasm;cytosol;sperm fibrous sheath;intercellular bridge;extracellular exosome
Molecular function: glutathione transferase activity;protein binding;enzyme binding;identical protein binding;protein homodimerization activity;glutathione binding