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

Gene ID: 79853, updated on 18-Aug-2020

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
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

Genomic context

See TM4SF20 in Genome Data Viewer
Location:
2q36.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (227362038..227379306, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (228226872..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 stress induced phosphoprotein 1 pseudogene 2 Neighboring gene mitochondrial fission factor Neighboring gene microRNA 5703 Neighboring gene ArfGAP with FG repeats 1 Neighboring gene spore coat protein SP96 Neighboring gene chromosome 2 open reading frame 83

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ22800

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
transmembrane 4 L6 family member 20

NCBI Reference Sequences (RefSeq)

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_024795.4NP_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
    Q53R12
    Related
    ENSP00000303028.3, ENST00000304568.4
    Conserved Domains (1) summary
    pfam05805
    Location:2223
    L6_membrane; L6 membrane protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    227362038..227379306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511876.2XP_011510178.1  transmembrane 4 L6 family member 20 isoform X1

    Conserved Domains (1) summary
    pfam05805
    Location:1156
    L6_membrane; L6 membrane protein
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