Entity Details

Primary name TM4SF20
Entity type gene
Source Source Link

Details

PrimaryID79853
RefseqGeneNG_051253
SymbolTM4SF20
Nametransmembrane 4 L six family member 20
Chromosome2
Location2q36.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-03-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsT4S20_HUMAN

GO terms

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GOName
GO:0005789 endoplasmic reticulum membrane
GO:0005886 plasma membrane
GO:0005925 focal adhesion
GO:0016021 integral component of membrane
GO:0045861 negative regulation of proteolysis

Diseases

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Disease IDSourceNameDescription
615432 OMIMSpecific 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. The disease is caused by variants affecting the gene represented in this entry.