SEC23A Gene
COPII Coat Complex Component, Secretory Pathway Regulator
Gene Information Card
| Symbol | SEC23A |
|---|---|
| Full Name | SEC23 homolog A, COPII coat complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 14q21.1 |
| NCBI Gene ID | 10484 ncbi.nlm.nih.gov/gene/10484 |
| Ensembl ID | ENSG00000100842 |
| UniProt ID | Q15436 |
| OMIM ID | 610511 |
| HGNC ID | 10701 |
| Aliases | CLSD, CRDSP, SEC23, hSec23A |
Description
SEC23A encodes a component of the COPII coat complex, which is essential for vesicle-mediated transport from the endoplasmic reticulum (ER) to the Golgi apparatus. The protein forms a complex with SEC24 and SAR1B to select cargo and deform the ER membrane into transport vesicles. Mutations in SEC23A cause congenital dyserythropoietic anemia type II (CDAN2) and cranio-lenticulo-sutural dysplasia (CLSD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital dyserythropoietic anemia type II (CDAN2) | Impaired ER-to-Golgi transport leads to defective glycosylation and erythroid maturation | ClinVar, OMIM |
| Cranio-lenticulo-sutural dysplasia (CLSD) | SEC23A mutations disrupt COPII function, causing skeletal and craniofacial defects | OMIM, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 25.3 | High |
| Salivary gland | 20.1 | High |
| Liver | 15.7 | Medium |
| Kidney | 12.4 | Medium |
| Testis | 10.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 18.5 | Hepatocellular carcinoma cell line |
| K562 | 14.2 | Chronic myelogenous leukemia cell line |
| HeLa | 12.1 | Cervical adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325G>A (p.Gly109Arg) | Missense | Rare | Dominant negative; causes CLSD |
| c.1075C>T (p.Arg359Trp) | Missense | Rare | Loss of function; associated with CDAN2 |
| c.1667T>C (p.Leu556Pro) | Missense | Rare | Impaired COPII complex assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in SEC23A (e.g., p.Arg359Trp) reduce COPII vesicle formation, leading to ER retention of cargo and CDAN2.
Gain of Function (GOF)
No gain-of-function mutations reported for SEC23A.
Dominant Negative (DN)
Mutations such as p.Gly109Arg in CLSD act as dominant-negative, disrupting wild-type SEC23A function in the COPII complex.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • ER to Golgi vesicle-mediated transport |
| • GTPase activator activity | • intracellular protein transport |
| • endoplasmic reticulum membrane |
Pathways
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
• ER-to-Golgi anterograde transport (KEGG: hsa04141)
Protein Summary
SEC23A is a 765-amino-acid protein that forms the inner layer of the COPII coat. It binds SAR1B-GTP and recruits SEC24 to select cargo for ER export. The protein contains a zinc finger domain and a gelsolin-like domain. Mutations in SEC23A impair cargo selection and vesicle budding, leading to glycosylation defects and disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC23A Knockout HEK293 Cell Line | EDJ-KQ7058 | Human | 10484 | Details Get a Quote |
| SEC23A Knockout HCT 116 Cell Line | EDJ-KQ30482 | Human | 10484 | Details Get a Quote |
| SEC23A Knockout A-549 Cell Line | EDJ-KQ31859 | Human | 10484 | Details Get a Quote |
| SEC23A Knockout HeLa Cell Line | EDJ-KQ31861 | Human | 10484 | Details Get a Quote |
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