GSTCD

protein-coding

glutathione S-transferase C-terminal domain containing, the group of 7BS orphan methyltransferases

Gene summary

Predicted to act upstream of or within respiratory system development and response to lipopolysaccharide. Located in cytoplasm and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001370181.1

Inheritance

—

ClinVar variants

U:78B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr4:105,708,778-105,847,725

External References & Databases

Ensembl (ENSG00000138780)

Transcript & Mutation Effects

hg38 • Region Span ~138.9 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 GSTCD variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001370181.1. 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			75 clinvar	3 clinvar		78
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	78	3	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001370181.1	RefSeq	NP_001357110.1	11	MANE Select
ENST00000515279.6	Ensembl	ENSP00000422354.1	11	MANE Select
NM_001031720.3	RefSeq	NP_001026890.2	11	Standard
NM_024751.3	RefSeq	NP_079027.2	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Metapathway biotransformation Phase I and II

Biological Process

biological_process

Molecular Function

molecular_function
protein binding

Cellular Component

nucleus
nucleoplasm
cytoplasm
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000515279
Coding exons: 11
Length: 138951
Individuals with no LoFs: 125704
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 125748
p: 0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.345	304	321	0.946	0.0000150	4149
Missense (PolyPhen)		118	125.41	0.94091		1582
Synonymous	-0.340	118	113	1.04	0.00000524	1203
Loss of Function	2.36	16	30.0	0.534	0.00000153	388

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00023	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.00041	0.00036	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.949

Intolerance Scores

LoFtool: 0.202
RVIS EVS: -0.31
RVIS percentile EVS: 31.93

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.466

Gene Damage Prediction

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