U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

TM4SF20 transmembrane 4 L six family member 20 [ Homo sapiens (human) ]

Gene ID: 79853, updated on 10-Dec-2024

Summary

Go to the top of the page Help
Official Symbol
TM4SF20provided by HGNC
Official Full Name
transmembrane 4 L six family member 20provided by HGNC
Primary source
HGNC:HGNC:26230
See related
Ensembl:ENSG00000168955 MIM:615404; AllianceGenome:HGNC:26230
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLI5; PRO994; TCCE518
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 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]
Expression
Biased expression in duodenum (RPKM 117.7) and small intestine (RPKM 65.0) See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See TM4SF20 in Genome Data Viewer
Location:
2q36.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227362038..227381647, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227844708..227864664, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228226754..228244022, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene collagen type IV alpha 3 chain Neighboring gene MFF divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:228185522-228186050 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12398 Neighboring gene stress induced phosphoprotein 1 pseudogene 2 Neighboring gene mitochondrial fission factor Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:228235290-228236489 Neighboring gene MPRA-validated peak4069 silencer Neighboring gene uncharacterized LOC124907993 Neighboring gene small cysteine and glycine repeat containing 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Identification of residues critical for topology inversion of the transmembrane protein TM4SF20 through regulated alternative translocation. Wang J, et al. J Biol Chem, 2019 Apr 12. PMID 30808712, Free PMC Article
  2. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Wiszniewski W, et al. Am J Hum Genet, 2013 Aug 8. PMID 23810381, Free PMC Article
  3. Inverting the Topology of a Transmembrane Protein by Regulating the Translocation of the First Transmembrane Helix. Chen Q, et al. Mol Cell, 2016 Aug 18. PMID 27499293, Free PMC Article
  4. Sustained induction of collagen synthesis by TGF-β requires regulated intramembrane proteolysis of CREB3L1. Chen Q, et al. PLoS One, 2014. PMID 25310401, Free PMC Article
  5. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. Piton A, et al. Mol Psychiatry, 2011 Aug. PMID 20479760, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of residues critical for topology inversion of the transmembrane protein TM4SF20 through regulated alternative translocation.
    Title: Identification of residues critical for topology inversion of the transmembrane protein TM4SF20 through regulated alternative translocation.
  2. Ceramide inverts the membrane orientation of TMS4SF20, creating a form of TM4SF20 that stimulates the cleavage of CREB3L1.
    Title: Inverting the Topology of a Transmembrane Protein by Regulating the Translocation of the First Transmembrane Helix.
  3. TM4SF20 is the first protein shown to undergo Regulated Alternative Translocation in response to ceramide. In the absence of ceramide, the N terminus of the first transmembrane helix of TM4SF20 is inserted into the ER lumen. This form blocks activation of CREB3L1, a membrane-bound transcription factor. In the presence of ceramide, the membrane topology of TM4SF20 is inverted. The inverted form stimulates CREB3L1 cleavage.
    Title: Inverting the Topology of a Transmembrane Protein by Regulating the Translocation of the First Transmembrane Helix.
  4. TM4SF20 ancestral deletion predisposes carriers to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
    Title: TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Specific language impairment 5
MedGen: C3809483 OMIM: 615432 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Clone Names

  • FLJ22800

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of proteolysis IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  

General protein information

Go to the top of the page Help
Preferred Names
transmembrane 4 L6 family member 20

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051253.1 RefSeqGene

    Range
    5001..22269
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_024795.4 → NP_079071.2  transmembrane 4 L6 family member 20

    See identical proteins and their annotated locations for NP_079071.2

    Status: REVIEWED

    Source sequence(s)
    AC097662, AK026453, BP270111, BP271071
    Consensus CDS
    CCDS2466.1
    UniProtKB/Swiss-Prot
    B2RP42, Q53R12, Q5U609, Q6UWS1, Q9H5X9
    Related
    ENSP00000303028.3, ENST00000304568.4
    Conserved Domains (1) summary
    pfam05805
    Location:2 → 223
    L6_membrane; L6 membrane protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    227362038..227381647 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511876.3 → XP_011510178.1  transmembrane 4 L6 family member 20 isoform X1

    Conserved Domains (1) summary
    pfam05805
    Location:1 → 156
    L6_membrane; L6 membrane protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    227844708..227864664 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054343995.1 → XP_054199970.1  transmembrane 4 L6 family member 20 isoform X2

    UniProtKB/Swiss-Prot
    B2RP42, Q53R12, Q5U609, Q6UWS1, Q9H5X9

  2. XM_054343996.1 → XP_054199971.1  transmembrane 4 L6 family member 20 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53R12.1 GenPept UniProtKB/Swiss-Prot:Q53R12

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools