PRXL2B

peroxiredoxin like 2B

Basic information

Region (hg38): 1:2586490-2591469

Previous symbols: [ "C1orf93", "FAM213B" ]

Links

ENSG00000157870 ∙ NCBI:127281 ∙ ∙ HGNC:28390 ∙ Uniprot:Q8TBF2 ∙ 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 PRXL2B gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRXL2B 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6			6
Total	0	0	8	0	0

Variants in PRXL2B

This is a list of pathogenic ClinVar variants found in the PRXL2B region.

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

Position	Type	Phenotype	Significance	ClinVar
1-2586800-G-A		not specified	Uncertain significance (Mar 02, 2023)
1-2586800-G-T		not specified	Uncertain significance (Jun 07, 2023)
1-2586814-T-G		not specified	Uncertain significance (Dec 05, 2022)
1-2586824-A-C		not specified	Uncertain significance (Jan 26, 2022)
1-2586835-G-T		not specified	Uncertain significance (Sep 06, 2022)
1-2586905-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-2586937-G-C		not specified	Uncertain significance (Oct 27, 2022)
1-2587213-C-G		not specified	Uncertain significance (Feb 07, 2023)
1-2588365-G-A		not specified	Uncertain significance (Dec 07, 2023)
1-2588550-G-T		not specified	Uncertain significance (Jun 11, 2021)
1-2588970-A-G		not specified	Uncertain significance (Mar 29, 2023)
1-2588972-G-A		not specified	Uncertain significance (Aug 08, 2022)
1-2589005-A-G		not specified	Uncertain significance (Dec 14, 2023)
1-2589029-G-A		not specified	Likely benign (Dec 06, 2021)
1-2591019-G-A		not specified	Uncertain significance (Aug 16, 2022)
1-2591027-G-T		not specified	Uncertain significance (Mar 11, 2024)
1-2591034-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-2591042-T-C		not specified	Uncertain significance (Aug 17, 2022)
1-2591044-G-T		not specified	Uncertain significance (Dec 17, 2023)
1-2591055-C-T		not specified	Uncertain significance (Aug 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRXL2B	protein_coding	protein_coding	ENST00000419916	7	4979

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000151	0.430	125455	0	285	125740	0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.354	97	107	0.904	0.00000570	1421
Missense in Polyphen		30	35.274	0.85048		401
Synonymous	0.120	50	51.1	0.979	0.00000298	483
Loss of Function	0.426	8	9.41	0.850	4.02e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0105	0.0105
Ashkenazi Jewish	0.00318	0.00318
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000530	0.000528
Middle Eastern	0.000109	0.000109
South Asian	0.000236	0.000229
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the reduction of prostaglandin-ethanolamide H(2) (prostamide H(2)) to prostamide F(2alpha) with NADPH as proton donor. Also able to reduce prostaglandin H(2) to prostaglandin F(2alpha) (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.126
• hipred: N
• hipred_score: 0.239
• ghis: 0.559

Mouse Genome Informatics

• Gene name: Fam213b

Gene ontology

• Biological process: prostaglandin biosynthetic process;oxidation-reduction process;cellular oxidant detoxification
• Cellular component: cytoplasm;endoplasmic reticulum;cytosol;myelin sheath;extracellular exosome
• Molecular function: antioxidant activity;oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor;prostaglandin-F synthase activity