ERP44

endoplasmic reticulum protein 44, the group of Thioredoxin domain containing |Protein disulfide isomerases

Basic information

Region (hg38): 9:99979184-100099052

Previous symbols: [ "TXNDC4" ]

Links

ENSG00000023318 ∙ NCBI:23071 ∙ OMIM:609170 ∙ HGNC:18311 ∙ Uniprot:Q9BS26 ∙ 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 ERP44 gene.

• Inborn genetic diseases (11 variants)

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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	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: gnomAD

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: dbNSFP

• 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