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SEC31A

Synonyms
ABP125, ABP130, HPBKS, HSPC275, HSPC334, NEDSOSB, SEC31L1
External resources
Summary
The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms.

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
31
Likely pathogenic
0
VUS
5,043
Likely benign
2,694
Benign
55

Patient phenotypes

Proportions of phenotypes among 31 patients carrying pathogenic or likely pathogenic variants on SEC31A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.9%
Abnormality of the eye
29%
Abnormality of the musculoskeletal system
22.6%
Abnormality of the ear
19.4%
Abnormality of head or neck
16.1%
Abnormality of the digestive system
12.9%
Abnormality of the genitourinary system
12.9%
Abnormality of the integument
12.9%
Growth abnormality
12.9%
Abnormality of the endocrine system
6.5%
Abnormality of the immune system
6.5%
Abnormality of blood and blood-forming tissues
3.2%
Abnormality of limbs
3.2%
Abnormality of the cardiovascular system
3.2%
Neoplasm
3.2%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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