TM4SF20
Transmembrane 4 L6 family member 20
Also known as: FLJ22800, T4S20_HUMAN, TCCE518
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q53R12
- Gene
- TM4SF20
- Ensembl
- ENSG00000168955
- Chromosome
- 2
- Canonical length
- 229 aa
- Protein class
- Disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane,Focal adhesion sites
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
229 residues, UniProt reviewed canonical sequence.
>Q53R12|TM4SF20
1 MTCCEGWTSC NGFSLLVLLL LGVVLNAIPL IVSLVEEDQF SQNPISCFEW WFPGIIGAGL
61 MAIPATTMSL TARKRACCNN RTGMFLSSLF SVITVIGALY CMLISIQALL KGPLMCNSPS
121 NSNANCEFSL KNISDIHPES FNLQWFFNDS CAPPTGFNKP TSNDTMASGW RASSFHFDSE
181 ENKHRLIHFS VFLGLLLVGI LEVLFGLSQI VIGFLGCLCG VSKRRSQIVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against TM4SF20 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 251 nTPM
Expression across tissuesHPA
Tissue
- duodenum: 251 nTPM
- small intestine: 136 nTPM
- rectum: 3.6 nTPM
- testis: 3.2 nTPM
- colon: 2.9 nTPM
- smooth muscle: 1.4 nTPM
Single-cell type
- enterocytes: 796 nCPM
- gastric progenitor cells: 272 nCPM
- late spermatids: 117 nCPM
- paneth cells: 43 nCPM
- early spermatids: 37 nCPM
- late primary spermatocytes: 34 nCPM
Immune cell
- basophil: 0.1 nTPM
- naive B-cell: 0.1 nTPM
- neutrophil: 0.1 nTPM
- NK-cell: 0.1 nTPM
- plasmacytoid DC: 0.1 nTPM
- classical monocyte: 0 nTPM
Brain region
- cerebellum: 4.4 nTPM
- white matter: 3.3 nTPM
- cerebral cortex: 2.7 nTPM
- choroid plexus: 2.7 nTPM
- basal ganglia: 2.4 nTPM
- medulla oblongata: 2.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TM4SF20.
Disease | AllUniProt
Conditions TM4SF20 is implicated in, by any mechanism.
- Specific language impairment 5 (SLI5) MIM:615432
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.63
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.4
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TM4SF20 as an antibody target. Whether an autoantibody or antibody against TM4SF20 could matter depends on whether native TM4SF20 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TM4SF20 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TM4SF20 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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