Version 5.4
Homo sapiens Protein: TM4SF20
Summary
InnateDB Protein IDBP-82606.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol TM4SF20
Protein Name transmembrane 4 L six family member 20
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000303028
InnateDB Gene IDBG-82604 (TM4SF20)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Cell membrane {ECO:0000269PubMed:23810381}; Multi-pass membrane protein {ECO:0000269PubMed:23810381}.
Disease Associations Specific language impairment 5 (SLI5) [MIM:615432]: 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. {ECO:0000269PubMed:23810381}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in the brain, with high levels in the parietal lobe, hippocampus, pons, white matter and cerebellum. {ECO:0000269PubMed:23810381}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR008661 L6 membrane
PFAM PF05805
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q53R12
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 79853
UniGene Hs.156652
RefSeq NP_079071
HUGO HGNC:26230
OMIM 615404
CCDS CCDS2466
HPRD 08008
IMGT
EMBL AC097662 AK026453 AY358671 BC035754 BC137256 BC137257
GenPept AAH35754 AAI37257 AAI37258 AAQ89034 AAY24253 BAB15488

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca