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

Summary

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
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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

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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

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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Preferred Names: transmembrane 4 L6 family member 20

NCBI Reference Sequences (RefSeq)

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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

NG_051253.1 RefSeqGene

Range

5001..22269

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

227362038..227381647 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

NC_060926.1 Alternate T2T-CHM13v2.0

Range

227844708..227864664 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/Swiss-Prot

B2RP42, Q53R12, Q5U609, Q6UWS1, Q9H5X9
XM_054343996.1 → XP_054199971.1 transmembrane 4 L6 family member 20 isoform X1