Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79853 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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TM4SF20 |
SynonymsGene synonyms aliases
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PRO994, SLI5, TCCE518 |
ChromosomeChromosome number
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2 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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2q36.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
229 |
Interactions |
View interactions |
Associated diseases
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Language disorders |
Language Disorders |
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Specific language impairment |
SPECIFIC LANGUAGE IMPAIRMENT 5 |
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23810381 |
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