GLRX2

glutaredoxin 2, the group of Glutaredoxin domain containing

Basic information

Region (hg38): 1:193090866-193106114

Links

ENSG00000023572

∙ NCBI:51022 ∙ OMIM:606820 ∙ HGNC:16065 ∙ Uniprot:Q9NS18 ∙ 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 GLRX2 gene.

not_specified (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GLRX2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000197962.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			14 clinvar			14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	14	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GLRX2	protein_coding	protein_coding	ENST00000367440	4	9647

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000860	0.575	125709	0	10	125719	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.387	71	80.8	0.879	0.00000372	1070
Missense in Polyphen		17	22.159	0.76717		311
Synonymous	-1.15	39	30.9	1.26	0.00000158	309
Loss of Function	0.448	5	6.20	0.806	2.62e-7	86

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000595	0.0000595
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000879
Middle Eastern	0.000217	0.000217
South Asian	0.0000660	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Glutathione-dependent oxidoreductase that facilitates the maintenance of mitochondrial redox homeostasis upon induction of apoptosis by oxidative stress. Involved in response to hydrogen peroxide and regulation of apoptosis caused by oxidative stress. Acts as a very efficient catalyst of monothiol reactions because of its high affinity for protein glutathione-mixed disulfides. Can receive electrons not only from glutathione (GSH), but also from thioredoxin reductase supporting both monothiol and dithiol reactions. Efficiently catalyzes both glutathionylation and deglutathionylation of mitochondrial complex I, which in turn regulates the superoxide production by the complex. Overexpression decreases the susceptibility to apoptosis and prevents loss of cardiolipin and cytochrome c release. {ECO:0000269|PubMed:11297543, ECO:0000269|PubMed:14676218, ECO:0000269|PubMed:15328416, ECO:0000269|PubMed:15649413}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

loftool: 0.681
rvis_EVS: 0.39
rvis_percentile_EVS: 75.87

Haploinsufficiency Scores

pHI: 0.300
hipred: N
hipred_score: 0.112
ghis: 0.562

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.958

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Glrx2
Phenotype: homeostasis/metabolism phenotype; vision/eye phenotype;

Zebrafish Information Network

Gene name: glrx2
Affected structure: dopaminergic neuron
Phenotype tag: abnormal
Phenotype quality: decreased amount

Gene ontology

Biological process: regulation of transcription, DNA-templated;glutathione metabolic process;apoptotic process;aging;response to temperature stimulus;regulation of signal transduction;response to organic substance;electron transport chain;cell differentiation;DNA protection;response to hydrogen peroxide;cell redox homeostasis;response to redox state;cellular response to superoxide
Cellular component: nucleus;nucleoplasm;mitochondrion;mitochondrial matrix;dendrite;neuronal cell body;intracellular membrane-bounded organelle
Molecular function: protein disulfide isomerase activity;arsenate reductase (glutaredoxin) activity;electron transfer activity;protein disulfide oxidoreductase activity;glutathione disulfide oxidoreductase activity;metal ion binding;2 iron, 2 sulfur cluster binding