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TM4SF20 (transmembrane 4 L six family member 20)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79853
Gene nameGene Name - the full gene name approved by the HGNC.
Transmembrane 4 L six family member 20
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
TM4SF20
SynonymsGene synonyms aliases
PRO994, SLI5, TCCE518
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.3
SummarySummary of gene provided in NCBI Entrez 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
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005789 Component Endoplasmic reticulum membrane IDA 27499293
GO:0005886 Component Plasma membrane IDA
GO:0005925 Component Focal adhesion IDA
GO:0016021 Component Integral component of membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence
Sequence length 229
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autism Autistic behavior rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Unknown
Disease name Disease term dbSNP ID References
Language disorders Language Disorders
Specific language impairment SPECIFIC LANGUAGE IMPAIRMENT 5 23810381

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