SEC23B Gene
COPII Coat Complex Component, Congenital Dyserythropoietic Anemia Type II Associated
Gene Information Card
| Symbol | SEC23B |
|---|---|
| Full Name | SEC23 homolog B, COPII coat complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 20p11.23 |
| NCBI Gene ID | 10483 ncbi.nlm.nih.gov/gene/10483 |
| Ensembl ID | ENSG00000101298 |
| UniProt ID | Q15436 |
| OMIM ID | 610512 |
| HGNC ID | 10702 |
| Aliases | CDAN2, CDA-II, SEC23B, SEC23B1 |
Description
SEC23B encodes a component of the COPII (Coat Protein II) complex, which is essential for vesicle-mediated transport from the endoplasmic reticulum (ER) to the Golgi apparatus. The protein is a GTPase-activating protein (GAP) for SAR1, regulating COPII coat assembly and disassembly. Mutations in SEC23B are the primary cause of congenital dyserythropoietic anemia type II (CDAN2), a rare autosomal recessive disorder characterized by ineffective erythropoiesis, hemolytic anemia, and jaundice.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital dyserythropoietic anemia type II (CDAN2) | Loss-of-function mutations in SEC23B impair COPII-mediated ER-to-Golgi transport, leading to defective glycosylation and erythroid precursor cell death. | ClinVar, OMIM |
| Cowden syndrome (rare association) | Missense variants may disrupt SEC23B function, contributing to PTEN-related tumor susceptibility. | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Liver | 8.3 | Low |
| Pancreas | 7.1 | Low |
| Spleen | 6.9 | Low |
| Kidney | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 14.2 | High expression |
| HEK 293 (embryonic kidney) | 9.8 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 7.5 | Low expression |
| HeLa (cervical carcinoma) | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.40C>T (p.Arg14Trp) | Missense | ~30% of CDAN2 alleles | Loss of function; disrupts SAR1 GAP activity |
| c.325G>A (p.Glu109Lys) | Missense | ~15% of CDAN2 alleles | Loss of function; impairs COPII coat assembly |
| c.1249C>T (p.Arg417Cys) | Missense | ~10% of CDAN2 alleles | Loss of function; reduces protein stability |
| c.1666C>T (p.Arg556Trp) | Missense | ~5% of CDAN2 alleles | Loss of function; defective ER export |
Mutation functional classification
Loss of Function (LOF)
Most SEC23B mutations in CDAN2 are loss-of-function, leading to reduced or absent COPII-mediated ER-to-Golgi transport, causing erythroid precursor apoptosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; CDAN2 is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COPII-mediated vesicle transport (REACT_14797)
• ER-to-Golgi anterograde transport (REACT_14988)
• Protein glycosylation (REACT_14799)
Protein Summary
SEC23B is a 767-amino-acid protein (UniProt Q15436) that functions as a GTPase-activating protein (GAP) for SAR1, a small GTPase critical for COPII vesicle formation. It localizes to the ER exit sites and is essential for selective cargo packaging and vesicle budding. Mutations cause congenital dyserythropoietic anemia type II (CDAN2) due to defective erythroid maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC23B Knockout HEK293 Cell Line | EDJ-KQ951 | Human | 10483 | Details Get a Quote |
| SEC23B Knockout A-549 Cell Line | EDJ-KQ19941 | Human | 10483 | Details Get a Quote |
| SEC23B Knockout HCT 116 Cell Line | EDJ-KQ19942 | Human | 10483 | Details Get a Quote |
| SEC23B Knockout HeLa Cell Line | EDJ-KQ19943 | Human | 10483 | Details Get a Quote |
| SEC23B（g.18491553C>A） Point Mutation in HEK293T Cell Line | EDC90763 | Human | 10483 | Details Get a Quote |
