SEZ6L2 Gene Summary [Human]

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Details

Type
Protein Coding
Official Symbol
SEZ6L2
Official Name
seizure related 6 homolog like 2 [Source:HGNC Symbol;Acc:HGNC:30844]
Ensembl ID
ENSG00000174938
Bio databases IDs NCBI: 26470 Ensembl: ENSG00000174938
Aliases seizure related 6 homolog like 2, type I transmembrane receptor (seizure related protein)
Synonyms AI835913, AW121566, BSRP-A, PSK-1, RGD1565281, seizure related 6 homolog like 2
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 SEZ6L2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • CCP
  • CUB
  • Sushi repeat (SCR repeat)
  • SUSHI repeat

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • organismal death
  • COVID-19
  • systemic lupus erythematosus
regulated by
role in cell
  • maturation
  • innervation

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
  • Endoplasmic Reticulum
  • synaptic vesicles
  • perikaryon

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human SEZ6L2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of protein kinase C signaling cascade
  • synapse maturation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • endoplasmic reticulum
  • neuronal cell body
  • plasma membrane

Gene-Specific Assays for Results You Can Trust

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