GLRX

glutaredoxin, the group of Glutaredoxin domain containing

Basic information

Region (hg38): 5:95751318-95822726

Links

ENSG00000173221 ∙ NCBI:2745 ∙ OMIM:600443 ∙ HGNC:4330 ∙ Uniprot:P35754 ∙ 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 GLRX gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLRX 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in GLRX

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

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

Position	Type	Phenotype	Significance	ClinVar
5-95755590-A-G		not specified	Uncertain significance (Sep 25, 2023)
5-95755592-T-G		not specified	Uncertain significance (Feb 23, 2023)
5-95755645-A-C		not specified	Uncertain significance (Jan 17, 2024)
5-95755740-A-C		not specified	Uncertain significance (Dec 19, 2023)
5-95763565-G-C		not specified	Uncertain significance (Jun 09, 2022)
5-95768157-G-A		not specified	Uncertain significance (Nov 18, 2022)
5-95780375-A-G		not specified	Uncertain significance (Jan 23, 2024)
5-95783805-T-C		not specified	Uncertain significance (Jan 17, 2024)
5-95783941-T-C		not specified	Uncertain significance (Jan 23, 2024)
5-95793068-G-A		not specified	Uncertain significance (Nov 20, 2023)
5-95793098-C-T		not specified	Uncertain significance (Nov 17, 2023)
5-95793107-A-G		not specified	Uncertain significance (Dec 08, 2023)
5-95793148-C-T		not specified	Uncertain significance (Mar 01, 2024)
5-95793163-T-A		not specified	Uncertain significance (Jul 25, 2023)
5-95816542-G-A		not specified	Uncertain significance (Nov 10, 2022)
5-95822464-C-T		not specified	Uncertain significance (Jun 12, 2023)
5-95822475-T-A		not specified	Uncertain significance (Jan 27, 2022)
5-95822521-T-C		not specified	Uncertain significance (Aug 02, 2021)
5-95822554-G-T		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GLRX	protein_coding	protein_coding	ENST00000379979	2	71687

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.67e-7	0.0756	125726	0	21	125747	0.0000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.484	47	57.3	0.820	0.00000291	687
Missense in Polyphen		5	11.339	0.44095		172
Synonymous	0.356	21	23.2	0.906	0.00000121	211
Loss of Function	-1.10	8	5.28	1.52	2.92e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000640	0.000641
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000440	0.0000439
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has a glutathione-disulfide oxidoreductase activity in the presence of NADPH and glutathione reductase. Reduces low molecular weight disulfides and proteins.
• Pathway: One Carbon Metabolism;Metabolism of nucleotides;Interconversion of nucleotide di- and triphosphates;Metabolism;arsenate detoxification I (glutaredoxin);glutathione redox reactions II;ascorbate recycling (cytosolic) (Consensus)

Recessive Scores

• pRec: 0.342

Intolerance Scores

• loftool: 0.858
• rvis_EVS: -0.21
• rvis_percentile_EVS: 38.28

Haploinsufficiency Scores

• pHI: 0.0897
• hipred: Y
• hipred_score: 0.547
• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.659

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Glrx
• Phenotype: cellular phenotype; vision/eye phenotype

Gene ontology

• Biological process: nucleobase-containing small molecule interconversion;electron transport chain;cell redox homeostasis;positive regulation of membrane potential;protein deglutathionylation;positive regulation of sodium ion transmembrane transporter activity
• Cellular component: nucleus;cytosol;extracellular exosome
• Molecular function: electron transfer activity;glutathione disulfide oxidoreductase activity;protein N-terminus binding;glutathione oxidoreductase activity