SEZ6L2

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]

Description

Seizure related 6 homolog like 2

Tissue specificity

Tissue enhanced (brain, pituitary gland)

Predicted location

Intracellular, Membrane

Protein family

Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

16 (29871159 - 29899547)

Ensembl ID

ENSG00000174938  (ver. 103.38)

Orthologs

Mouse Sez6l2: ENSMUSG00000030683

UniProt

Q6UXD5

neXtProt

NX_Q6UXD5

Human splice variants
Mouse splice variants

Protein structure