ERO1B

endoplasmic reticulum oxidoreductase 1 beta

Basic information

Region (hg38): 1:236214681-236282019

Previous symbols: [ "ERO1LB" ]

Links

ENSG00000086619 ∙ NCBI:56605 ∙ OMIM:615437 ∙ HGNC:14355 ∙ Uniprot:Q86YB8 ∙ 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 ERO1B gene.

• not_specified (57 variants)
• not_provided (2 variants)
• Developmental_cataract (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERO1B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019891.4. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			57	2	1	60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	57	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERO1B	protein_coding	protein_coding	ENST00000354619	16	66465

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.76e-9	0.977	125681	0	66	125747	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.911	198	238	0.834	0.0000123	3039
Missense in Polyphen		78	106.62	0.73156		1323
Synonymous	-0.358	85	80.9	1.05	0.00000391	823
Loss of Function	2.22	19	32.7	0.581	0.00000185	396

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000330
Ashkenazi Jewish	0.000398	0.000397
East Asian	0.000507	0.000489
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000250	0.000246
Middle Eastern	0.000507	0.000489
South Asian	0.000334	0.000327
Other	0.000354	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis. {ECO:0000269|PubMed:11707400, ECO:0000269|PubMed:21091435}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human);Peptide hormone metabolism;Metabolism of proteins;Insulin processing (Consensus)

Intolerance Scores

• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.493

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Ero1lb
• Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: protein folding;4-hydroxyproline metabolic process;protein maturation by protein folding;insulin processing;extracellular matrix organization;protein folding in endoplasmic reticulum;glucose homeostasis;cell redox homeostasis;oxidation-reduction process
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane
• Molecular function: protein disulfide isomerase activity;protein binding;protein disulfide oxidoreductase activity;oxidoreductase activity;oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor;unfolded protein binding