Gene Gene information from NCBI Gene database.
Entrez ID 79853
Gene name Transmembrane 4 L six family member 20
Gene symbol TM4SF20
Synonyms (NCBI Gene)
PRO994SLI5TCCE518
Chromosome 2
Chromosome location 2q36.3
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
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT648229 hsa-miR-5196-3p HITS-CLIP 23824327
MIRT648228 hsa-miR-4793-5p HITS-CLIP 23824327
MIRT648227 hsa-miR-5088-3p HITS-CLIP 23824327
MIRT648226 hsa-miR-5193 HITS-CLIP 23824327
MIRT648225 hsa-miR-660-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 27499293
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005886 Component Plasma membrane IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615404 26230 ENSG00000168955
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q53R12
Protein name Transmembrane 4 L6 family member 20
Protein function Polytopic transmembrane protein that inhibits regulated intramembrane proteolysis (RIP) of CREB3L1, inhibiting its activation and the induction of collagen synthesis (PubMed:25310401, PubMed:27499293). In response to ceramide, which alters TM4SF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05805 L6_membrane 2 223 L6 membrane protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the brain, with high levels in the parietal lobe, hippocampus, pons, white matter and cerebellum. {ECO:0000269|PubMed:23810381}.
Sequence
Sequence length 229
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Benign rs7574414 RCV005914227
Colorectal cancer Benign rs7574414 RCV005914226
Malignant tumor of esophagus Uncertain significance rs144716300 RCV005926681
Specific language impairment 5 Likely benign; Uncertain significance rs575973865, rs1422064104, rs774704649 RCV001376141
RCV002275678
RCV003448625
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Language Development Disorders Associate 23810381
Leukoencephalopathies Associate 23810381