SEC24B Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
SEC24B
Official Name
SEC24 homolog B, COPII coat complex component [Source:HGNC Symbol;Acc:HGNC:10704]
Ensembl ID
ENSG00000138802
Bio databases IDs NCBI: 10427 Ensembl: ENSG00000138802
Aliases SEC24 homolog B, COPII coat complex component
Synonyms AI605202, SEC24, SEC24 homolog B, COPII coat complex component
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SEC24B often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Sec23/Sec24 helical domain
  • Actin depolymerization factor/cofilin- and gelsolin-like domains
  • Sec23/Sec24 trunk domain
  • zinc ion binding
  • Gelsolin repeat
  • vWFA
  • Sec23/Sec24 beta-sandwich domain
  • protein binding
  • Sec23/Sec24 zinc finger
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • allergic rhinitis
  • omphalocele
  • carcinoma in situ
  • epithelial cancer in situ
  • craniorachischisis
  • spina bifida
  • late-onset Alzheimer disease
regulated by
role in cell
  • growth
  • orientation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • perinuclear region
  • cellular membrane
  • vesicles
  • cytosol
  • endoplasmic reticulum membrane
  • transport vesicles

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SEC24B gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • auditory receptor cell stereocilium organization
  • lung lobe morphogenesis
  • pulmonary artery morphogenesis
  • coronary artery morphogenesis
  • cochlear nucleus development
  • regulation of establishment of planar polarity involved in neural tube closure
  • outflow tract morphogenesis
  • cargo loading into COPII-coated vesicle
  • intracellular protein transport
  • ER to Golgi vesicle-mediated transport
  • aorta morphogenesis
  • neural tube closure

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • ER to Golgi transport vesicle membrane
  • cytosol
  • endoplasmic reticulum exit site
  • COPII vesicle coat

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • protein binding
  • SNARE binding

Gene-Specific Assays for Results You Can Trust

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