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ERN1

Synonyms
IRE1, IRE1P, IRE1a, hIRE1p
External resources
Summary
This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
6
Likely pathogenic
2
VUS
4,504
Likely benign
2,254
Benign
0

Patient phenotypes

Proportions of phenotypes among 8 patients carrying pathogenic or likely pathogenic variants on ERN1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
50%
Abnormality of the digestive system
37.5%
Growth abnormality
37.5%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
25%
Abnormality of the immune system
25%
Abnormality of the integument
25%
Abnormality of the musculoskeletal system
25%
Abnormality of blood and blood-forming tissues
12.5%
Abnormality of limbs
12.5%
Abnormality of the ear
12.5%
Abnormality of the eye
12.5%
Abnormality of the genitourinary system
12.5%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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