TM4SF20 transmembrane 4 L six family member 20
Gene ID: 79853, updated on 11-Apr-2024Gene type: protein coding
Also known as: SLI5; PRO994; TCCE518
- See all available tests in GTR for this gene
- Go to complete Gene record for TM4SF20
- Go to Variation Viewer for TM4SF20 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Specific language impairment 5 | See labs |
Genomic context
- Location:
- 2q36.3
- Sequence:
- Chromosome: 2; NC_000002.12 (227362038..227381647, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TM4SF20 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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