TM4SF20 gene

transmembrane 4 L six family member 20

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Specific language impairment 5

From UniProt:

Specific language impairment 5 (SLI5): A disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. [MIM:615432]

Cytogenetic Location: 2q36.3, which is the long (q) arm of chromosome 2 at position 36.3

Molecular Location: base pairs 227,362,041 to 227,379,306 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q36.3, which is the long (q) arm of chromosome 2 at position 36.3
  • PRO994
  • SLI5
  • TCCE518