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Aliases for TM4SF20 Gene

Aliases for TM4SF20 Gene

  • Transmembrane 4 L Six Family Member 20 2 3 5
  • TCCE518 3
  • PRO994 3
  • SLI5 3

External Ids for TM4SF20 Gene

Previous GeneCards Identifiers for TM4SF20 Gene

  • GC02M228053
  • GC02M227935
  • GC02M228226
  • GC02M220071

Summaries for TM4SF20 Gene

GeneCards Summary for TM4SF20 Gene

TM4SF20 (Transmembrane 4 L Six Family Member 20) is a Protein Coding gene. Diseases associated with TM4SF20 include Specific Language Impairment 5 and Specific Language Impairment.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TM4SF20 Gene

Genomics for TM4SF20 Gene

Regulatory Elements for TM4SF20 Gene

Enhancers for TM4SF20 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TM4SF20 on UCSC Golden Path with GeneCards custom track

Genomic Location for TM4SF20 Gene

Chromosome:
2
Start:
227,362,156 bp from pter
End:
227,381,995 bp from pter
Size:
19,840 bases
Orientation:
Minus strand

Genomic View for TM4SF20 Gene

Genes around TM4SF20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TM4SF20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TM4SF20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TM4SF20 Gene

Proteins for TM4SF20 Gene

  • Protein details for TM4SF20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53R12-T4S20_HUMAN
    Recommended name:
    Transmembrane 4 L6 family member 20
    Protein Accession:
    Q53R12
    Secondary Accessions:
    • B2RP42
    • Q5U609
    • Q6UWS1
    • Q9H5X9

    Protein attributes for TM4SF20 Gene

    Size:
    229 amino acids
    Molecular mass:
    25075 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TM4SF20 Gene

Proteomics data for TM4SF20 Gene at MOPED

Post-translational modifications for TM4SF20 Gene

No Post-translational modifications

Other Protein References for TM4SF20 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TM4SF20 Gene

Domains & Families for TM4SF20 Gene

Protein Domains for TM4SF20 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for TM4SF20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53R12

UniProtKB/Swiss-Prot:

T4S20_HUMAN :
  • Belongs to the L6 tetraspanin family.
Family:
  • Belongs to the L6 tetraspanin family.
genes like me logo Genes that share domains with TM4SF20: view

No data available for Gene Families for TM4SF20 Gene

Function for TM4SF20 Gene

genes like me logo Genes that share phenotypes with TM4SF20: view

Animal Model Products

  • Taconic Biosciences Mouse Models for TM4SF20

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TM4SF20 Gene

Localization for TM4SF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TM4SF20 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TM4SF20 Gene COMPARTMENTS Subcellular localization image for TM4SF20 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for TM4SF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with TM4SF20: view

Pathways & Interactions for TM4SF20 Gene

SuperPathways for TM4SF20 Gene

No Data Available

Interacting Proteins for TM4SF20 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000303028%0d%0a9606.ENSP00000317469%0d%0a
Selected Interacting proteins: ENSP00000303028 Q53R12-T4S20_HUMAN for TM4SF20 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for TM4SF20 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TM4SF20 Gene

Drugs & Compounds for TM4SF20 Gene

No Compound Related Data Available

Transcripts for TM4SF20 Gene

mRNA/cDNA for TM4SF20 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(12) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TM4SF20 Gene

Transmembrane 4 L six family member 20:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TM4SF20 Gene

No ASD Table

Relevant External Links for TM4SF20 Gene

GeneLoc Exon Structure for
TM4SF20
ECgene alternative splicing isoforms for
TM4SF20

Expression for TM4SF20 Gene

mRNA expression in normal human tissues for TM4SF20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TM4SF20 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x48.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TM4SF20 Gene



SOURCE GeneReport for Unigene cluster for TM4SF20 Gene Hs.156652

mRNA Expression by UniProt/SwissProt for TM4SF20 Gene

Q53R12-T4S20_HUMAN
Tissue specificity: Expressed in the brain, with high levels in the parietal lobe, hippocampus, pons, white matter and cerebellum.
genes like me logo Genes that share expression patterns with TM4SF20: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for TM4SF20 Gene

Orthologs for TM4SF20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TM4SF20 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TM4SF20 35
  • 82.68 (n)
  • 75.11 (a)
TM4SF20 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TM4SF20 35
  • 82.82 (n)
  • 74.24 (a)
TM4SF20 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tm4sf20 35
  • 83.19 (n)
  • 75.66 (a)
Tm4sf20 16
Tm4sf20 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TM4SF20 35
  • 99.71 (n)
  • 99.13 (a)
TM4SF20 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tm4sf20 35
  • 78.76 (n)
  • 74.34 (a)
oppossum
(Monodelphis domestica)
Mammalia TM4SF20 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TM4SF20 36
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tm4sf20 35
  • 54.24 (n)
  • 41.36 (a)
Species with no ortholog for TM4SF20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TM4SF20 Gene

ENSEMBL:
Gene Tree for TM4SF20 (if available)
TreeFam:
Gene Tree for TM4SF20 (if available)

Paralogs for TM4SF20 Gene

No data available for Paralogs for TM4SF20 Gene

Variants for TM4SF20 Gene

Sequence variations from dbSNP and Humsavar for TM4SF20 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs7574414 - 227,379,189(+) GTATC(A/G)CATTG reference, missense
rs5839210 -- 227,363,416(+) GTCTC(-/A)AAAAA downstream-variant-500B, utr-variant-3-prime
rs9288623 -- 227,371,607(+) aaaga(A/T)gtgag intron-variant
rs9678000 -- 227,372,597(+) gatca(C/T)gtgac intron-variant
rs11692020 -- 227,363,162(+) GTAAT(C/T)GCAGC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TM4SF20 Gene

Variant ID Type Subtype PubMed ID
esv2721559 CNV Deletion 23290073
nsv522790 CNV Loss 19592680
nsv518519 CNV Gain 19592680
nsv875922 CNV Gain 21882294
esv259842 OTHER Complex 20981092
esv23388 CNV Gain 19812545
esv2421896 CNV Duplication 20811451

Variation tolerance for TM4SF20 Gene

Residual Variation Intolerance Score: 82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TM4SF20 Gene

Human Gene Mutation Database (HGMD)
TM4SF20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TM4SF20 Gene

Disorders for TM4SF20 Gene

MalaCards: The human disease database

(3) MalaCards diseases for TM4SF20 Gene - From: OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
specific language impairment 5
  • sli5
specific language impairment
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

T4S20_HUMAN
  • Specific language impairment 5 (SLI5) [MIM:615432]: A disorder characterized by a delay in early speech acquisition. It is usually associated with cerebral white matter abnormalities on brain MRI. Some individuals may show disorders in communication, consistent with autism spectrum disorder, or global developmental delay, although others ultimately show normal cognitive function. Penetrance is incomplete and expressivity is variable. {ECO:0000269 PubMed:23810381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TM4SF20

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TM4SF20
genes like me logo Genes that share disorders with TM4SF20: view

No data available for Genatlas for TM4SF20 Gene

Publications for TM4SF20 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 2 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. (PMID: 23810381) Wiszniewski W. … Lalani S.R. (Am. J. Hum. Genet. 2013) 3
  4. Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia. (PMID: 20479760) Piton A. … Rouleau G.A. (Mol. Psychiatry 2011) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for TM4SF20 Gene

Sources for TM4SF20 Gene

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