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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TM4SF20 Gene

protein-coding   GIFtS: 47
GCID: GC02M228226

Transmembrane 4 L Six Family Member 20

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transmembrane 4 L Six Family Member 201 2
PRO9942
TCCE5182
Transmembrane 4 L6 Family Member 202

External Ids:    HGNC: 262301   Entrez Gene: 798532   Ensembl: ENSG000001689557   OMIM: 6154045   UniProtKB: Q53R123   

Export aliases for TM4SF20 gene to outside databases

Previous GC identifers: GC02M228053 GC02M227935 GC02M220071


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TM4SF20 Gene: 
TM4SF20 (transmembrane 4 L six family member 20) is a protein-coding gene. Diseases associated with TM4SF20 include autism spectrum disorder, and schizophrenia.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TM4SF20 gene promoter:
         Max1   USF1   SREBP-1c   STAT1beta   STAT1alpha   SREBP-1b   SREBP-1a   USF-1   c-Myc   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTM4SF20 promoter sequence
   Search SABiosciences Chromatin IP Primers for TM4SF20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TM4SF20


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q36.3   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36.3

TM4SF20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TM4SF20 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M228226:  view genomic region     (about GC identifiers)

Start:
228,226,872 bp from pter      End:
228,246,711 bp from pter
Size:
19,840 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: T4S20_HUMAN, Q53R12 (See protein sequence)
Recommended Name: Transmembrane 4 L6 family member 20  
Size: 229 amino acids; 25075 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2RP42 Q5U609 Q6UWS1 Q9H5X9

Explore the universe of human proteins at neXtProt for TM4SF20: NX_Q53R12

Explore proteomics data for TM4SF20 at MOPED 

TM4SF20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

TM4SF20 Protein Expression

REFSEQ proteins: NP_079071.2  
ENSEMBL proteins: 
 ENSP00000303028   ENSP00000416565  

Human Recombinant Protein Products for TM4SF20: 
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--

TM4SF20 for ontologies           About GeneDecksing



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Cloud-Clone Corp. CLIAs for TM4SF20


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
1 InterPro protein domain:
 IPR008661 L6_membrane

Graphical View of Domain Structure for InterPro Entry Q53R12

ProtoNet protein and cluster: Q53R12

1 Blocks protein domain: IPB008661 L6 membrane

UniProtKB/Swiss-Prot: T4S20_HUMAN, Q53R12
Similarity: Belongs to the L6 tetraspanin family


TM4SF20 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Phenotypes:
     1 MGI phenotypic allele for Tm4sf20 (no phenotypes)

TM4SF20 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Tm4sf20tm1Lex for TM4SF20

   inGenious Targeting Laboratory - Custom generated mouse model solutions for TM4SF20 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TM4SF20

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TM4SF20 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TM4SF20 

miRNA
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SwitchGear 3'UTR luciferase reporter plasmidTM4SF20 3' UTR sequence
Inhib. RNA
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TM4SF20


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TM4SF20

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

2 Interacting proteins for TM4SF20 (Q53R123 ENSP000003030284) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
BBS1Q8NFJ93I2D: score=1 
DPP3ENSP000003537014STRING: ENSP00000353701
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TM4SF20 (T4S20)

Search CenterWatch for drugs/clinical trials and news about TM4SF20 / T4S20

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TM4SF20 gene: 
NM_024795.3  

Unigene Cluster for TM4SF20:

Transmembrane 4 L six family member 20
Hs.156652  [show with all ESTs]
Unigene Representative Sequence: NM_024795
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000304568(uc002vpb.2) ENST00000449706
miRNA
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2 QIAGEN miScript miRNA Assays for microRNAs that regulate TM4SF20:
hsa-miR-488 hsa-miR-548aa
SwitchGear 3'UTR luciferase reporter plasmidTM4SF20 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
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Clone
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM4SF20
Sirion Biotech Customized lentivirus for stable overexpression of TM4SF20 
                     Customized lentivirus expression plasmids for stable overexpression of TM4SF20 
Primer
Products:
    
OriGene qPCR primer pairs and template standards for TM4SF20
OriGene qSTAR qPCR primer pairs in human, mouse for TM4SF20
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TM4SF20
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TM4SF20
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TM4SF20

Additional mRNA sequence: 

AK026453.1 AY358671.1 BC035754.1 BC137256.1 BC137257.1 

1 DOTS entry:

DT.75114273 

12 AceView cDNA sequences:

BM768647 AK026453 AY358671 AI380663 BC035754 BM923919 NM_024795 BP383132 
BX483390 BM923940 AI346656 AI346667 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TM4SF20 expression in normal human tissues (normalized intensities)      TM4SF20 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AGCCATCGCG
TM4SF20 Expression
About this image


TM4SF20 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/5 selected tissues (see all 5) fully expand
 
 Intestine (Gastrointestinal Tract)
         small intestine   
 
 Colon (Gastrointestinal Tract)
         colonic mucosa   
 
 Neural Tube (Nervous System)
         Metencephalon
 
 Brain (Nervous System)
         brain/midbrain   
 
 Spinal Cord (Nervous System)

See TM4SF20 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TM4SF20

SOURCE GeneReport for Unigene cluster: Hs.156652
    SABiosciences Custom PCR Arrays for TM4SF20
Primer
Products:
OriGene qPCR primer pairs and template standards for TM4SF20
OriGene qSTAR qPCR primer pairs in human, mouse for TM4SF20
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat TM4SF20
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TM4SF20
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TM4SF20
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TM4SF20

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for TM4SF20 gene from 1/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Tm4sf201 , 5 transmembrane 4 L six family member 201, 5 83.19(n)1
75.66(a)1
  1 (42.48 cM)5
662611  NM_025453.31  NP_079729.11 
 827566495 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/477 SNPs in TM4SF20 are shown (see all 477)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs76082711,2
C--220089399(+) AACACA/GACACA 1 -- us2k14Minor allele frequency- G:0.18NA EA 244
rs104457401,2
C,F,A,H--228226516(+) TGAACA/GTGGTT 1 -- int125Minor allele frequency- G:0.31NS EA NA WA CSA 2355
rs1807455701,2
--228226533(+) CTCCTA/GAATAC 1 -- int10--------
rs730901231,2
C,F--228226541(+) TACTAT/CAGTGA 1 -- int15Minor allele frequency- C:0.18WA NA EA 362
rs1166378071,2
F--228226567(+) ATGTAT/GGTTAC 1 -- int11Minor allele frequency- G:0.02WA 118
rs1119460241,2
C,F--228226573(+) GTTACG/ATTATG 1 -- int11Minor allele frequency- A:0.50NA 2
rs1437837771,2
--228226954(+) GCACAC/TATAGA 1 -- ut310--------
rs563188621,2
C--228227060(+) ATGTAC/ACTGTC 1 -- ut314Minor allele frequency- A:0.17WA NA EA 360
rs1135113491,2
C,F--228227075(+) AAATAT/CAACAG 1 -- ut311Minor allele frequency- C:0.04NA 120
rs44280101,2
C,F,A,H--228227094(+) TCCCCG/ATTGCT 1 -- ut3119Minor allele frequency- A:0.31NS EA NA WA CSA 2344

HapMap Linkage Disequilibrium report for TM4SF20 (228226872 - 228246711 bp)

Structural Variations
     Database of Genomic Variants (DGV) 7 variations for TM4SF20:    About this table     
Variant IDTypeSubtypePubMed ID
esv2721559CNV Deletion23290073
esv2421896CNV Duplication20811451
nsv522790CNV Loss19592680
esv23388CNV Gain19812545
nsv875922CNV Gain21882294
nsv518519CNV Gain19592680
esv259842OTHER Complex20981092

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 615404    OMIM disorders: --

2 diseases for TM4SF20:    About MalaCards
autism spectrum disorder    schizophrenia


TM4SF20 for disorders           About GeneDecksing


Export disorders for TM4SF20 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for TM4SF20 gene integrated from 9 sources:
(articles sorted by number of sources associating them with TM4SF20)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (2003)
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Systematic resequencing of X-chromosome synaptic gene s in autism spectrum disorder and schizophrenia. (PubMed id 20479760)1 Piton A....Rouleau G.A. (2010)
  6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 79853 HGNC: 26230 AceView: FLJ22800 Ensembl:ENSG00000168955 euGenes: HUgn79853
ECgene: TM4SF20 H-InvDB: TM4SF20

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for TM4SF20 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for TM4SF20 gene:
Search GeneIP for patents involving TM4SF20

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Regulatory tfbs in TM4SF20 promoter
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 Proteins for TM4SF20
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 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TM4SF20
 inGenious Targeting Laboratory - Custom generated mouse model solutions for TM4SF20
 inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TM4SF20
Customized:
 lentivirus for stable overexpression of TM4SF20
 lentivirus expression plasmids for stable overexpression of TM4SF20
 adenovirus for overexpression of TM4SF20
 LSBio Antibodies in human, mouse, rat for TM4SF20
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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