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

Gene ID: 79853, updated on 10-Oct-2023

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
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Genomic context

See TM4SF20 in Genome Data Viewer
Location:
2q36.3
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (227362038..227381647, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (227844708..227864664, complement)
105.20220307 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

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 protein information

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

  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
    B2RP42, Q53R12, Q5U609, Q6UWS1, Q9H5X9
    Related
    ENSP00000303028.3, ENST00000304568.4
    Conserved Domains (1) summary
    pfam05805
    Location:2223
    L6_membrane; L6 membrane protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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_011511876.3XP_011510178.1  transmembrane 4 L6 family member 20 isoform X1

    Conserved Domains (1) summary
    pfam05805
    Location:1156
    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_054343995.1XP_054199970.1  transmembrane 4 L6 family member 20 isoform X2

    UniProtKB/Swiss-Prot
    B2RP42, Q53R12, Q5U609, Q6UWS1, Q9H5X9
  2. XM_054343996.1XP_054199971.1  transmembrane 4 L6 family member 20 isoform X1