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Aliases for TCF20 Gene

Aliases for TCF20 Gene

  • Transcription Factor 20 2 3 5
  • Stromelysin-1 Platelet-Derived Growth Factor-Responsive Element Binding Protein 2 3
  • Stromelysin-1 PDGF-Responsive Element-Binding Protein 3 4
  • SPRE-Binding Protein 3 4
  • Nuclear Factor SPBP 3 4
  • TCF-20 3 4
  • SPBP 3 4
  • Transcription Factor 20 (AR1) 2
  • Protein AR1 4
  • KIAA0292 4
  • AR1 3

External Ids for TCF20 Gene

Previous GeneCards Identifiers for TCF20 Gene

  • GC22M039158
  • GC22M040786
  • GC22M040880
  • GC22M042556
  • GC22M025521

Summaries for TCF20 Gene

Entrez Gene Summary for TCF20 Gene

  • This gene encodes a transcription factor that recognizes the platelet-derived growth factor-responsive element in the matrix metalloproteinase 3 promoter. The encoded protein is thought to be a transcriptional coactivator, enhancing the activity of transcription factors such as JUN and SP1. Mutations in this gene are associated with autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneCards Summary for TCF20 Gene

TCF20 (Transcription Factor 20) is a Protein Coding gene. Diseases associated with TCF20 include Vertebrobasilar Insufficiency and Breast Sarcoma. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity. An important paralog of this gene is RAI1.

UniProtKB/Swiss-Prot for TCF20 Gene

  • Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator.

Gene Wiki entry for TCF20 Gene

Additional gene information for TCF20 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCF20 Gene

Genomics for TCF20 Gene

GeneHancer (GH) Regulatory Elements for TCF20 Gene

Promoters and enhancers for TCF20 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I042343 Promoter/Enhancer 1.4 Ensembl ENCODE dbSUPER 550.8 -0.6 -588 2 BCOR BACH1 ZMYM3 FEZF1 BCL11B E2F1 ZFHX2 POLR2A VEZF1 ZNF143 TCF20 NFAM1 LINC01315 GC22P042359
GH22I042364 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.4 -21.8 -21772 1.7 KLF17 FEZF1 ZNF335 GLIS2 ZNF398 ZEB2 SP1 PRDM6 ZSCAN16 GLIS1 TCF20 LINC01315 WBP2NL NFAM1 GC22M042499
GH22I041444 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +896.9 896900 5.9 MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 ZNF143 TOB2 LOC105373043 L3MBTL2 ZC3H7B PHF5A EP300 SLC25A17 POLR3H NDUFA6-AS1 XRCC6
GH22I042444 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -100.8 -100776 1.8 HDGF PKNOX1 SMAD1 ARID4B SIN3A ZNF2 YY1 ZNF766 ZNF143 KLF13 TCF20 PHF5A RPL5P34 RN7SKP80 CYP2D7 CYP2D6 ENSG00000232710 POLDIP3 NFAM1 SMDT1
GH22I042176 Enhancer 1.3 FANTOM5 Ensembl ENCODE 20.1 +163.1 163093 8.2 HDGF PKNOX1 RB1 BMI1 BATF IRF4 TCF12 ZNF121 ZNF366 ATF7 CYP2D6 TCF20 SMDT1 NFAM1 NDUFA6-AS1 NDUFA6 RNU6ATAC22P ENSG00000227370 MEI1 CENPM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCF20 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCF20 gene promoter:

Genomic Locations for TCF20 Gene

Genomic Locations for TCF20 Gene
chr22:42,160,013-42,343,616
(GRCh38/hg38)
Size:
183,604 bases
Orientation:
Minus strand
chr22:42,556,019-42,739,622
(GRCh37/hg19)

Genomic View for TCF20 Gene

Genes around TCF20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCF20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCF20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCF20 Gene

Proteins for TCF20 Gene

  • Protein details for TCF20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGU0-TCF20_HUMAN
    Recommended name:
    Transcription factor 20
    Protein Accession:
    Q9UGU0
    Secondary Accessions:
    • A9JX12
    • O14528
    • Q13078
    • Q4V353
    • Q9H4M0

    Protein attributes for TCF20 Gene

    Size:
    1960 amino acids
    Molecular mass:
    211771 Da
    Quaternary structure:
    • Homodimer (Probable). Interacts with RNF4 and JUN (By similarity).
    SequenceCaution:
    • Sequence=AAC36392.1; Type=Frameshift; Positions=1932; Evidence={ECO:0000305}; Sequence=CAB42440.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for TCF20 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCF20 Gene

Post-translational modifications for TCF20 Gene

  • Ubiquitination at posLast=844844, posLast=10861086, and isoforms=21267

No data available for DME Specific Peptides for TCF20 Gene

Domains & Families for TCF20 Gene

Gene Families for TCF20 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for TCF20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCF20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UGU0

UniProtKB/Swiss-Prot:

TCF20_HUMAN :
  • The atypical PHD domain functions as a negative modulator of cofactor binding.
Domain:
  • The atypical PHD domain functions as a negative modulator of cofactor binding.
genes like me logo Genes that share domains with TCF20: view

Function for TCF20 Gene

Molecular function for TCF20 Gene

GENATLAS Biochemistry:
transcription factor 20 (TCF20),highly homolog to Spbp,a murine activator of expression of stromelysin 1
UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to the regulatory region of MMP3 and thereby controls stromelysin expression. It stimulates the activity of various transcriptional activators such as JUN, SP1, PAX6 and ETS1, suggesting a function as a coactivator.

Phenotypes From GWAS Catalog for TCF20 Gene

Gene Ontology (GO) - Molecular Function for TCF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS 10995766
GO:0003700 DNA binding transcription factor activity IBA --
GO:0003713 transcription coactivator activity NAS 10995766
GO:0003723 RNA binding HDA,IDA 22658674
GO:0044212 transcription regulatory region DNA binding IBA --
genes like me logo Genes that share ontologies with TCF20: view
genes like me logo Genes that share phenotypes with TCF20: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TCF20 Gene

Localization for TCF20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCF20 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCF20 gene
Compartment Confidence
nucleus 5
mitochondrion 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TCF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,NAS 10995766
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IDA --
genes like me logo Genes that share ontologies with TCF20: view

Pathways & Interactions for TCF20 Gene

genes like me logo Genes that share pathways with TCF20: view

Pathways by source for TCF20 Gene

Gene Ontology (GO) - Biological Process for TCF20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 10995766
GO:0045944 positive regulation of transcription by RNA polymerase II IBA --
genes like me logo Genes that share ontologies with TCF20: view

No data available for SIGNOR curated interactions for TCF20 Gene

Drugs & Compounds for TCF20 Gene

No Compound Related Data Available

Transcripts for TCF20 Gene

Unigene Clusters for TCF20 Gene

Transcription factor 20 (AR1):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCF20 Gene

No ASD Table

Relevant External Links for TCF20 Gene

GeneLoc Exon Structure for
TCF20
ECgene alternative splicing isoforms for
TCF20

Expression for TCF20 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TCF20 Gene

Protein differential expression in normal tissues from HIPED for TCF20 Gene

This gene is overexpressed in Heart (21.8), Peripheral blood mononuclear cells (17.7), CD8 Tcells (8.5), and Plasma (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TCF20 Gene



Protein tissue co-expression partners for TCF20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TCF20 Gene:

TCF20

SOURCE GeneReport for Unigene cluster for TCF20 Gene:

Hs.475018

mRNA Expression by UniProt/SwissProt for TCF20 Gene:

Q9UGU0-TCF20_HUMAN
Tissue specificity: Expressed in most tissues, except in ovary and prostate. Isoform 1 is exclusively expressed in brain, heart and testis, and this form predominates in liver and kidney. Isoform 2 predominates in lung.

Evidence on tissue expression from TISSUES for TCF20 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with TCF20: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TCF20 Gene

Orthologs for TCF20 Gene

This gene was present in the common ancestor of animals.

Orthologs for TCF20 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCF20 33 34
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia TCF20 33 34
  • 89.75 (n)
mouse
(Mus musculus)
Mammalia Tcf20 33 16 34
  • 88.68 (n)
Zfp957 34
  • 54 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tcf20 33
  • 88.6 (n)
cow
(Bos Taurus)
Mammalia TCF20 33 34
  • 87.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCF20 34
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCF20 34
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCF20 33 34
  • 75.79 (n)
lizard
(Anolis carolinensis)
Reptilia TCF20 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcf20 33
  • 60.91 (n)
Str.17635 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16860 33
zebrafish
(Danio rerio)
Actinopterygii tcf20 34
  • 22 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG5098 34
  • 16 (a)
OneToMany
Species where no ortholog for TCF20 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)

Evolution for TCF20 Gene

ENSEMBL:
Gene Tree for TCF20 (if available)
TreeFam:
Gene Tree for TCF20 (if available)

Paralogs for TCF20 Gene

Paralogs for TCF20 Gene

genes like me logo Genes that share paralogs with TCF20: view

Variants for TCF20 Gene

Sequence variations from dbSNP and Humsavar for TCF20 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs869312678 pathogenic, not provided 42,209,920(-) CACA/CA coding_sequence_variant, frameshift
rs1000021261 -- 42,269,441(-) GG/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000023943 -- 42,236,206(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000029953 -- 42,264,480(-) T/G genic_upstream_transcript_variant, intron_variant
rs1000032199 -- 42,161,727(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TCF20 Gene

Variant ID Type Subtype PubMed ID
nsv834211 CNV loss 17160897
nsv834210 CNV loss 17160897
nsv474702 CNV novel sequence insertion 20440878
nsv3643 CNV insertion 18451855

Variation tolerance for TCF20 Gene

Residual Variation Intolerance Score: 0.349% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.94; 83.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TCF20 Gene

Human Gene Mutation Database (HGMD)
TCF20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCF20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TCF20 Gene

Disorders for TCF20 Gene

MalaCards: The human disease database

(4) MalaCards diseases for TCF20 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
breast sarcoma
  • sarcoma of breast
leukoencephalopathy with vanishing white matter
  • vwm
autism
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards
Search TCF20 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TCF20

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TCF20: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCF20 Gene

Publications for TCF20 Gene

  1. The nuclear factor SPBP contains different functional domains and stimulates the activity of various transcriptional activators. (PMID: 10995766) Rekdal C … Johansen T (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Assignment of AR1, transcription factor 20 (TCF20), to human chromosome 22q13.3 with somatic cell hybrids and in situ hybridization. (PMID: 9730594) Rajadhyaksha A … Bina M (Cytogenetics and cell genetics 1998) 2 3 4 22 58
  3. Obesity and diabetes genetic variants associated with gestational weight gain. (PMID: 20816152) Stuebe AM … Siega-Riz AM (American journal of obstetrics and gynecology 2010) 3 44 58
  4. Prostate cancer risk-associated variants reported from genome-wide association studies: meta-analysis and their contribution to genetic Variation. (PMID: 20564319) Kim ST … Sun J (The Prostate 2010) 3 44 58
  5. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PMID: 20490451) Andersson EA … Pedersen O (Diabetologia 2010) 3 44 58

Products for TCF20 Gene

Sources for TCF20 Gene

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