GSTA5

protein-coding

glutathione S-transferase alpha 5, the group of Soluble glutathione S-transferases

Gene summary

The glutathione S-transferases (GST; EC 2.5.1.18) catalyze the conjugation of reduced glutathiones and a variety of electrophiles, including many known carcinogens and mutagens. The cytosolic GSTs belong to a large superfamily, with members located on different chromosomes. For additional information on GSTs, see GSTA1 (MIM 138359).[supplied by OMIM, Sep 2008]

MANE transcript

NM_153699.3

Inheritance

—

ClinVar variants

U:31B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.43

Max pathogenic AF

—

Genomic locus

chr6:52,831,655-52,840,843

External References & Databases

Ensembl (ENSG00000182793)

Transcript & Mutation Effects

hg38 • Region Span ~9.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GSTA5 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 31

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153699.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			30 clinvar	1 clinvar		31
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	31	1	0	32

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153699.3	RefSeq	NP_714543.1	6	MANE Select
ENST00000370989.7	Ensembl	ENSP00000360028.1	6	MANE Select
ENST00000475052.2	Ensembl	ENSP00000518828.1	3	Standard
XM_054328422.1	RefSeq	XP_054184397.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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)

Biological Process

glutathione metabolic process

Molecular Function

glutathione transferase activity

Cellular Component

cytosol
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370989
Coding exons: 6
Length: 14441
Individuals with no LoFs: 125243
Homozygous LoFs: 1
Heterozygous LoFs: 504
Defined: 125748
p: 0.00201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.36	158	117	1.36	0.00000571	1467
Missense (PolyPhen)		54	37.135	1.4541		538
Synonymous	-1.00	50	41.7	1.20	0.00000215	398
Loss of Function	-1.26	14	9.76	1.43	4.08e-7	132

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0062	0.0062	notable
Latino/Admixed American	0.0032	0.0032	notable
Ashkenazi Jewish	0.0017	0.0017	notable
East Asian	0.0035	0.0035	notable
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.0016	0.0016	notable
South Asian	0.00036	0.00036	rare
Other	0.0023	0.0023	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0986

Intolerance Scores

LoFtool: 0.849
RVIS EVS: 0.62
RVIS percentile EVS: 83.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.00532

Gene Damage Prediction

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