TXNRD3

thioredoxin reductase 3, the group of Glutaredoxin domain containing|Selenoproteins

Basic information

Region (hg38): 3:126571778-126655124

Previous symbols: [ "TXNRD3NB", "TXNRD3IT1" ]

Links

ENSG00000197763 ∙ NCBI:114112 ∙ OMIM:606235 ∙ HGNC:20667 ∙ Uniprot:Q86VQ6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TXNRD3 gene.

• Inborn genetic diseases (36 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TXNRD3 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			32	3		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	32	3	1

Variants in TXNRD3

This is a list of pathogenic ClinVar variants found in the TXNRD3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
3-126572219-C-G		not specified	Uncertain significance (Apr 28, 2023)
3-126572461-C-T		not specified	Uncertain significance (Aug 21, 2023)
3-126572528-C-T		not specified	Uncertain significance (Jun 11, 2021)
3-126572536-T-G		not specified	Uncertain significance (Dec 27, 2022)
3-126607922-T-C		not specified	Uncertain significance (Jun 29, 2023)
3-126607939-C-T		not specified	Uncertain significance (Dec 05, 2022)
3-126607943-A-G		not specified	Uncertain significance (Nov 30, 2022)
3-126608525-T-C		not specified	Uncertain significance (Dec 28, 2022)
3-126608552-G-A		not specified	Uncertain significance (Aug 02, 2021)
3-126608593-C-T		not specified	Uncertain significance (May 03, 2023)
3-126611041-T-A		not specified	Uncertain significance (Feb 15, 2023)
3-126611042-C-A		not specified	Uncertain significance (Feb 17, 2022)
3-126611066-C-T		not specified	Uncertain significance (Apr 18, 2023)
3-126611067-A-A			Benign (Dec 31, 2019)
3-126611098-G-A		not specified	Uncertain significance (Jul 12, 2023)
3-126611130-T-C		not specified	Uncertain significance (Jan 23, 2024)
3-126621755-G-A		not specified	Uncertain significance (Dec 13, 2021)
3-126621798-C-T		not specified	Uncertain significance (Nov 09, 2021)
3-126621801-C-A		not specified	Uncertain significance (Dec 15, 2022)
3-126621860-T-C		not specified	Likely benign (Aug 12, 2021)
3-126621886-T-C		not specified	Uncertain significance (Mar 23, 2023)
3-126629386-T-C		not specified	Uncertain significance (Oct 05, 2022)
3-126629416-G-C		not specified	Uncertain significance (Dec 11, 2023)
3-126629426-C-T		not specified	Uncertain significance (Oct 26, 2022)
3-126629435-T-C		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TXNRD3	protein_coding	protein_coding	ENST00000524230	16	83377

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.34e-8	0.913	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.60	184	256	0.719	0.0000130	4449
Missense in Polyphen		61	101.9	0.59861		1351
Synonymous	1.87	70	92.9	0.754	0.00000494	1395
Loss of Function	1.76	15	24.4	0.616	0.00000103	441

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Displays thioredoxin reductase, glutaredoxin and glutathione reductase activities. Catalyzes disulfide bond isomerization. Promotes disulfide bond formation between GPX4 and various sperm proteins and may play a role in sperm maturation by promoting formation of sperm structural components (By similarity). {ECO:0000250|UniProtKB:Q99MD6}.
• Pathway: Selenocompound metabolism - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Selenium Micronutrient Network;Selenium Metabolism and Selenoproteins;Nuclear Receptors Meta-Pathway;NRF2 pathway;thioredoxin pathway (Consensus)

Recessive Scores

• pRec: 0.107

Haploinsufficiency Scores

• pHI: 0.0473
• ghis: 0.466

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.212

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Txnrd3

Gene ontology

• Biological process: multicellular organism development;spermatogenesis;electron transport chain;cell differentiation;cell redox homeostasis;cellular oxidant detoxification
• Cellular component: nucleus;cytoplasm;mitochondrion;endoplasmic reticulum
• Molecular function: thioredoxin-disulfide reductase activity;electron transfer activity;protein disulfide oxidoreductase activity;flavin adenine dinucleotide binding