GSTT2 glutathione S-transferase theta 2 (gene/pseudogene) [Homo sapiens (human)] - Gene

Summary

Official Symbol: GSTT2provided by HGNC
Official Full Name: glutathione S-transferase theta 2 (gene/pseudogene)provided by HGNC
Primary source: HGNC:HGNC:4642
See related: Ensembl:ENSG00000099984 MIM:600437; AllianceGenome:HGNC:4642
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: The protein encoded by this gene, glutathione S-transferase (GST) theta 2 (GSTT2), is a member of a superfamily of proteins that catalyze the conjugation of reduced glutathione to a variety of electrophilic and hydrophobic compounds. Human GSTs can be divided into five main classes: alpha, mu, pi, theta, and zeta. The theta class includes GSTT1, GSTT2, and GSTT2B. GSTT2 and GSTT2B are nearly identical to each other, and share 55% amino acid identity with GSTT1. All three genes may play a role in human carcinogenesis. The GSTT2 gene is a pseudogene in some populations. [provided by RefSeq, Sep 2015]
Annotation information: Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene.
Expression: Broad expression in adrenal (RPKM 18.4), skin (RPKM 14.6) and 20 other tissues See more
Orthologs: all
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Genomic context

Location:: 22q11.23

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (23980134..23983915)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (24387435..24391322)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (24322325..24326106)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Proanthocyanidins mitigate bile acid-induced changes in GSTT2 levels in a panel of racially diverse patient-derived primary esophageal cell cultures.
Title: Proanthocyanidins mitigate bile acid-induced changes in GSTT2 levels in a panel of racially diverse patient-derived primary esophageal cell cultures.
Increased levels of GSTT2 in esophageal tissues of African American individuals might protect them from GERD-induced damage and contribute to the low incidence of esophageal adenocarcinoma in this population.
Title: Constitutively Higher Level of GSTT2 in Esophageal Tissues From African Americans Protects Cells Against DNA Damage.
analysis of glutathione S-transferase copy number variation alters lung gene expression
Title: Glutathione S-transferase copy number variation alters lung gene expression.
Polyphenol metabolites did not affect cell number but significantly upregulated GSTT2 expression and decreased COX-2.
Title: Impact of polyphenol metabolites produced by colonic microbiota on expression of COX-2 and GSTT2 in human colon cells (LT97).
GSTM1 (1p13.3) and GSTT2 (22q11.23) showed a statistically significant association of non-null genotypes at both loci with an additive effect for increased vulnerability to schizophrenia
Title: Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia.
PAH-DNA adduct formation could be modulated by common genetic variants in GSTT2 in African American, Dominican and Caucasian mothers and newborns.
Title: Assessment of interactions between PAH exposure and genetic polymorphisms on PAH-DNA adducts in African American, Dominican, and Caucasian mothers and newborns.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Alcohol, tobacco and genetic susceptibility in relation to cancers of the upper aerodigestive tract in northern Italy.
Observational study of gene-disease association. (HuGE Navigator)
Title: Glutathione pathway genetic polymorphisms and lung cancer survival after platinum-based chemotherapy.
single nucleotide polymorphisms and haplotypes of the GSTT2 promoter region are associated with colorectal cancer risk in the Korean population
Title: GSTT2 promoter polymorphisms and colorectal cancer risk.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-R08187 (e-PCR)
- UniSTS:16247

D22S1106 (e-PCR)
- UniSTS:52936

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables glutathione transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glutathione transferase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in glutathione metabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: glutathione S-transferase theta-2

Names: GST class-theta-2

NP_000845.2

EC 2.5.1.18

NP_001289599.1

EC 2.5.1.18

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_000854.5 → NP_000845.2 glutathione S-transferase theta-2 isoform a

See identical proteins and their annotated locations for NP_000845.2

Status: VALIDATED

Description

Transcript Variant: This variant (1, coding) encodes the longer isoform (a). This variant represents the ALT_REF_LOCI_1 alternate haplotype in the GRCh38 reference genome assembly.

Source sequence(s)

AP000351

UniProtKB/Swiss-Prot

O60665, P0CG29, P30712, Q6IPV7, Q9HD76

UniProtKB/TrEMBL

B2R533, G9J6Q4, G9J6Q6

Conserved Domains (3) summary

cd03183
Location:91 → 216

GST_C_Theta; C-terminal, alpha helical domain of Class Theta Glutathione S-transferases

COG0625
Location:14 → 210

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03050
Location:3 → 78

GST_N_Theta; GST_N family, Class Theta subfamily; composed of eukaryotic class Theta GSTs and bacterial dichloromethane (DCM) dehalogenase. GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with ...
NM_001302670.1 → NP_001289599.1 glutathione S-transferase theta-2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a. This variant represents the ALT_REF_LOCI_1 alternate haplotype in the GRCh38 reference genome assembly.

Source sequence(s)

AA682380, BM804805, BM976631, BU584249, CX782167

UniProtKB/TrEMBL

A0AAG2UWG5, B2R533, G9J6Q4, G9J6Q6, Q6IB75

Conserved Domains (3) summary

cd03183
Location:91 → 202

GST_C_Theta; C-terminal, alpha helical domain of Class Theta Glutathione S-transferases

COG0625
Location:14 → 196

GstA; Glutathione S-transferase [Posttranslational modification, protein turnover, chaperones]

cd03050
Location:3 → 78

GST_N_Theta; GST_N family, Class Theta subfamily; composed of eukaryotic class Theta GSTs and bacterial dichloromethane (DCM) dehalogenase. GSTs are cytosolic dimeric proteins involved in cellular detoxification by catalyzing the conjugation of glutathione (GSH) with ...

RNA

NR_126442.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (3) includes an additional internal exon and uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant represents the ALT_REF_LOCI_1 alternate haplotype in the GRCh38 reference genome assembly.

Source sequence(s)

AA682380, BM804805, BM976631, CD013993, CX782167
NR_126445.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (1, non-coding) represents the non-functional and pseudogenic primary reference allele of the GRCh38 reference genome assembly. It differs at three nucleotide positions compared to variant 1, and includes a premature translational stop codon.

Source sequence(s)

AC253536

Related

ENST00000634759.1
NR_126446.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD). This variant represents the ALT_REF_LOCI_1 alternate haplotype in the GRCh38 reference genome assembly.

Source sequence(s)

AA682380, BM804805, BM976631, CD013993, CX782167