TXNDC2 thioredoxin domain containing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXNDC2provided by HGNC
Official Full Name: thioredoxin domain containing 2provided by HGNC
Primary source: HGNC:HGNC:16470
See related: Ensembl:ENSG00000168454 MIM:617790; AllianceGenome:HGNC:16470
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
Also known as: SPTRX; SPTRX1
Summary: Enables thioredoxin-disulfide reductase (NADPH) activity. Predicted to be involved in cell differentiation; cellular oxidant detoxification; and spermatogenesis. Predicted to act upstream of or within cellular response to reactive oxygen species and flagellated sperm motility. Located in cytoplasm. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Restricted expression toward testis (RPKM 25.5) See more
Orthologs: mouse all
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Genomic context

Location:: 18p11.22

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (9885973..9889275)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (10049441..10052739)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (9885970..9889272)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

TXNDC2 joint molecular marker is associated with testis pathology and is an accurate predictor of sperm retrieval.
Title: TXNDC2 joint molecular marker is associated with testis pathology and is an accurate predictor of sperm retrieval.
Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
Title: Testis-Specific Thioredoxins TXNDC2, TXNDC3, and TXNDC6 Are Expressed in Both Testicular and Systemic DLBCL and Correlate with Clinical Disease Presentation.
The patients with advanced-stagemalignant pleural mesothelioma (MPM) showed higher levels of TRX than those with early-stage MPM.
Title: Is serum thioredoxin-1 a useful clinical marker for malignant pleural mesothelioma?
spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain protein with oxidizing activity
Title: Human spermatid-specific thioredoxin-1 (Sptrx-1) is a two-domain protein with oxidizing activity.
sperm specific expression, together with chromosomal assignment to a position as a potential locus for flagellar anomalies and male infertility phenotypes, suggests that it might be a novel component of the human sperm axonemal organization.
Title: Sptrx-2, a fusion protein composed of one thioredoxin and three tandemly repeated NDP-kinase domains is expressed in human testis germ cells.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables thioredoxin-disulfide reductase (NADPH) activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell redox homeostasis	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular oxidant detoxification	IEA Inferred from Electronic Annotation more info
involved_in spermatogenesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: thioredoxin domain-containing protein 2

Names: sperm-specific thioredoxin 1; spermatid-specific thioredoxin-1; sptrx-1; testicular tissue protein Li 215; thioredoxin domain containing 2 (spermatozoa)

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_001098529.2 → NP_001091999.1 thioredoxin domain-containing protein 2 isoform 2

See identical proteins and their annotated locations for NP_001091999.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses a different splice site, resulting in a longer open reading frame through the use of an upstream start codon, compared to variant 1. The predicted protein (isoform 2) has a longer N-terminus compared to isoform 1.

Source sequence(s)

AC006238, AF080095, AK097656, BC050132, DB032859

Consensus CDS

CCDS42414.1

UniProtKB/Swiss-Prot

A5YM73, Q86VQ3, Q8N7U4, Q96RX3, Q9H0L8

UniProtKB/TrEMBL

A0A140VJY8

Related

ENSP00000304908.6, ENST00000306084.6

Conserved Domains (1) summary

cd02947
Location:457 → 550

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...
NM_032243.6 → NP_115619.4 thioredoxin domain-containing protein 2 isoform 1

See identical proteins and their annotated locations for NP_115619.4

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the predominant protein (isoform 1) and represents the variant originally described in PMID: 11399755.

Source sequence(s)

AC006238, AF080095, BC050132

Consensus CDS

CCDS11846.1

UniProtKB/Swiss-Prot

Q86VQ3

Related

ENSP00000350419.4, ENST00000357775.6

Conserved Domains (1) summary

cd02947
Location:390 → 483

TRX_family; TRX family; composed of two groups: Group I, which includes proteins that exclusively encode a TRX domain; and Group II, which are composed of fusion proteins of TRX and additional domains. Group I TRX is a small ancient protein that alter the redox ...