ERP29

endoplasmic reticulum protein 29, the group of Protein disulfide isomerases

Basic information

Region (hg38): 12:112013348-112023449

Previous symbols: [ "C12orf8" ]

Links

ENSG00000089248 ∙ NCBI:10961 ∙ OMIM:602287 ∙ HGNC:13799 ∙ Uniprot:P30040 ∙ 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 ERP29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERP29 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	0

Variants in ERP29

This is a list of pathogenic ClinVar variants found in the ERP29 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-112013472-G-A		not specified	Uncertain significance (Jun 10, 2022)
12-112013478-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-112013481-C-A		not specified	Uncertain significance (Dec 20, 2024)
12-112013502-C-T		not specified	Uncertain significance (Jan 31, 2024)
12-112013512-C-G		not specified	Uncertain significance (Dec 14, 2021)
12-112013515-T-C		not specified	Uncertain significance (Apr 14, 2022)
12-112013523-G-A		not specified	Uncertain significance (Dec 08, 2021)
12-112013535-C-T		not specified	Uncertain significance (Aug 30, 2022)
12-112013565-C-T		not specified	Uncertain significance (May 08, 2023)
12-112019778-T-C		not specified	Uncertain significance (Nov 20, 2023)
12-112019792-G-A		not specified	Uncertain significance (Jan 24, 2025)
12-112019850-C-T		not specified	Uncertain significance (Oct 20, 2024)
12-112019858-A-G		not specified	Uncertain significance (Dec 14, 2023)
12-112019861-G-A		not specified	Uncertain significance (Oct 29, 2024)
12-112019874-T-C		not specified	Uncertain significance (Dec 21, 2022)
12-112022176-C-A		not specified	Uncertain significance (Jan 22, 2024)
12-112022224-C-T		not specified	Uncertain significance (Dec 20, 2023)
12-112022267-G-A		not specified	Uncertain significance (Dec 05, 2022)
12-112022312-G-C		not specified	Uncertain significance (May 24, 2024)
12-112022416-G-C		not specified	Uncertain significance (Jan 26, 2025)
12-112022495-T-C		not specified	Uncertain significance (Jun 16, 2024)
12-112022506-G-A		not specified	Uncertain significance (Sep 26, 2022)
12-112022518-G-A		not specified	Uncertain significance (Dec 10, 2024)
12-112022556-G-T		not specified	Uncertain significance (Oct 13, 2023)
12-112022618-T-A		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ERP29	protein_coding	protein_coding	ENST00000261735	3	10136

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.751	0.247	125721	0	26	125747	0.000103

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.181	144	150	0.958	0.00000825	1699
Missense in Polyphen		23	39.058	0.58887		503
Synonymous	0.396	63	67.1	0.939	0.00000398	522
Loss of Function	2.46	1	8.93	0.112	3.77e-7	118

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000188	0.000188
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000167	0.000167
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Does not seem to be a disulfide isomerase. Plays an important role in the processing of secretory proteins within the endoplasmic reticulum (ER), possibly by participating in the folding of proteins in the ER.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human);Ibuprofen Action Pathway;Phenytoin (Antiarrhythmic) Action Pathway;Ibuprofen Metabolism Pathway;Morphine Metabolism Pathway;Irinotecan Action Pathway;Morphine Action Pathway;Etoposide Action Pathway;Sorafenib Metabolism Pathway;Acetaminophen Metabolism Pathway;Vitamin A Deficiency;Irinotecan Metabolism Pathway;Etoposide Metabolism Pathway;Retinol Metabolism (Consensus)

Recessive Scores

• pRec: 0.199

Intolerance Scores

• loftool: 0.224
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.57

Haploinsufficiency Scores

• pHI: 0.0941
• hipred: N
• hipred_score: 0.295
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.973

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Erp29

Gene ontology

• Biological process: activation of MAPK activity;positive regulation of protein phosphorylation;protein folding;intracellular protein transport;protein secretion;positive regulation of gene expression;negative regulation of gene expression;protein unfolding;negative regulation of protein secretion;regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
• Cellular component: endoplasmic reticulum;endoplasmic reticulum lumen;smooth endoplasmic reticulum;cell surface;membrane;transport vesicle;melanosome
• Molecular function: protein disulfide isomerase activity;protein homodimerization activity;chaperone binding