ERP44
endoplasmic reticulum protein 44, the group of Thioredoxin domain containing |Protein disulfide isomerases
Basic information
Region (hg38): 9:99979185-100099052
Previous symbols: [ "TXNDC4" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ERP44 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 | 18 | 18 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 18 | 0 | 0 |
Variants in ERP44
This is a list of pathogenic ClinVar variants found in the ERP44 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 9-99982625-C-T | not specified | Uncertain significance (Nov 08, 2022) | ||
| 9-99982691-C-T | not specified | Uncertain significance (Mar 06, 2023) | ||
| 9-99985032-G-A | not specified | Uncertain significance (Jul 14, 2023) | ||
| 9-99985044-C-T | not specified | Uncertain significance (Sep 13, 2023) | ||
| 9-100006635-A-C | not specified | Uncertain significance (Jul 15, 2021) | ||
| 9-100007589-A-T | not specified | Uncertain significance (Dec 16, 2023) | ||
| 9-100018312-C-G | not specified | Uncertain significance (Nov 28, 2023) | ||
| 9-100020623-C-A | not specified | Uncertain significance (Jul 14, 2021) | ||
| 9-100020715-A-G | not specified | Uncertain significance (Dec 20, 2023) | ||
| 9-100020724-T-C | not specified | Uncertain significance (Feb 02, 2022) | ||
| 9-100022052-G-A | not specified | Uncertain significance (Dec 14, 2023) | ||
| 9-100022087-G-T | not specified | Uncertain significance (May 05, 2023) | ||
| 9-100022181-T-C | not specified | Uncertain significance (Feb 02, 2022) | ||
| 9-100022199-C-T | not specified | Uncertain significance (Jan 22, 2024) | ||
| 9-100052455-T-C | not specified | Uncertain significance (Nov 21, 2022) | ||
| 9-100057856-T-C | not specified | Uncertain significance (May 27, 2022) | ||
| 9-100060156-G-A | not specified | Uncertain significance (Aug 02, 2022) | ||
| 9-100098807-G-A | not specified | Uncertain significance (Mar 07, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ERP44 | protein_coding | protein_coding | ENST00000262455 | 12 | 119862 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.991 | 0.00894 | 125717 | 0 | 4 | 125721 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.29 | 120 | 214 | 0.561 | 0.0000108 | 2716 |
| Missense in Polyphen | 11 | 56.806 | 0.19364 | 750 | ||
| Synonymous | -0.109 | 75 | 73.8 | 1.02 | 0.00000391 | 714 |
| Loss of Function | 4.05 | 2 | 23.0 | 0.0871 | 0.00000124 | 287 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.000101 | 0.0000992 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000884 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000663 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. {ECO:0000269|PubMed:11847130, ECO:0000269|PubMed:14517240}.;
- Pathway
- Neutrophil degranulation;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.134
Intolerance Scores
- loftool
- 0.416
- rvis_EVS
- -0.07
- rvis_percentile_EVS
- 48.12
Haploinsufficiency Scores
- pHI
- 0.139
- hipred
- Y
- hipred_score
- 0.709
- ghis
- 0.554
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.955
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Erp44
- Phenotype
- pigmentation phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- erp44
- Affected structure
- endocardial cushion
- Phenotype tag
- abnormal
- Phenotype quality
- lacks parts or has fewer parts of type
Gene ontology
- Biological process
- protein folding;response to unfolded protein;glycoprotein metabolic process;response to endoplasmic reticulum stress;neutrophil degranulation;cell redox homeostasis
- Cellular component
- extracellular region;endoplasmic reticulum lumen;endoplasmic reticulum membrane;endoplasmic reticulum-Golgi intermediate compartment;cell surface;specific granule lumen;extracellular exosome
- Molecular function
- protein disulfide isomerase activity;protein binding