TM4SF20 Gene Summary [Human]

The protein encoded by this gene is a member of the four-transmembrane L6 superfamily. Members of this family function in various cellular processes including cell proliferation, motility, and adhesion via their interactions with integrins. In human brain tissue, this gene is expressed at high levels in the parietal lobe, occipital lobe, hippocampus, pons, white matter, corpus callosum, and cerebellum. Knockout of the homologous gene in mouse results in a neurobehavioral phenotype with suggested enhanced motor coordination. A deletion mutation in the human gene is associated with specific language impairment-5. [provided by RefSeq, Jul 2016]

Details

Type
Protein Coding
Official Symbol
TM4SF20
Official Name
transmembrane 4 L six family member 20 [Source:HGNC Symbol;Acc:HGNC:26230]
Ensembl ID
ENSG00000168955
Bio databases IDs NCBI: 79853 Ensembl: ENSG00000168955
Aliases transmembrane 4 L six family member 20
Synonyms 1810018L02Rik, Betagenin, LOC108348188, LOC682510, PRO994, SLI5, TCCE518, transmembrane 4 L six family member 20
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 TM4SF20 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • L6 membrane protein
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • specific language impairment type 5
  • streptozotocin-induced diabetes
regulated by
regulates
  • ERK1/2
  • D-glucose
  • INS
  • Hb A
  • proinsulin
role in cell
  • growth
  • proliferation
  • phosphorylation in
  • apoptosis
  • mass

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
  • focal adhesions
  • Plasma Membrane
  • endoplasmic reticulum membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TM4SF20 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of proteolysis

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • focal adhesion
  • membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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