Aliases for SEC24B Gene
External Ids for SEC24B Gene
Previous GeneCards Identifiers for SEC24B Gene
The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein is thought to be a cargo-binding component of the COPII vesicle, and is thought to be involved in the transport of secretory proteins from the endoplasmic reticulum to the Golgi apparatus. Mutations in this gene have been associated with neural tube defects, and are thought to be a result of a disruption in interactions with the protein encoded by the VANGL planar cell polarity protein 2 (VANGL2) gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
GeneCards Summary for SEC24B Gene
SEC24B (SEC24 Homolog B, COPII Coat Complex Component) is a Protein Coding gene. Diseases associated with SEC24B include Neural Tube Defects. Among its related pathways are Antigen Presentation- Folding, assembly and peptide loading of class I MHC and Antigen processing- Ubiquitination and Proteasome degradation. GO annotations related to this gene include transporter activity. An important paralog of this gene is SEC24D.
UniProtKB/Swiss-Prot for SEC24B Gene
Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex.