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Aliases for STON1-GTF2A1L Gene

Aliases for STON1-GTF2A1L Gene

  • STON1-GTF2A1L Readthrough 2 3 5
  • Stoned B/TFIIA Alpha/Beta Like Factor 2
  • Stoned B/TFIIA-Alpha/Beta-Like Factor 3
  • STON1-GTF2A1L Protein 3
  • SALF 3

External Ids for STON1-GTF2A1L Gene

Previous GeneCards Identifiers for STON1-GTF2A1L Gene

  • GC02P048650
  • GC02P048652
  • GC02P048653
  • GC02P048759
  • GC02P048762
  • GC02P048766
  • GC02P048769
  • GC02P048775
  • GC02P048778
  • GC02P048784
  • GC02P048787

Summaries for STON1-GTF2A1L Gene

Entrez Gene Summary for STON1-GTF2A1L Gene

  • STON1-GTF2A1L mRNAs are infrequent but naturally occurring read-through products of the neighboring STON1 and GTF2A1L genes. These transcripts encode fusion proteins composed of the vast majority of each of the individual elements, stonin 1 and general transcription factor IIA, 1-like. Alternative splicing results in multiple transcript variants. The significance of these read-through variants and the function of the resulting protein products have not yet been determined. [provided by RefSeq, Oct 2010]

GeneCards Summary for STON1-GTF2A1L Gene

STON1-GTF2A1L (STON1-GTF2A1L Readthrough) is a Protein Coding gene. An important paralog of this gene is STON1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STON1-GTF2A1L Gene

Genomics for STON1-GTF2A1L Gene

Regulatory Elements for STON1-GTF2A1L Gene

Enhancers for STON1-GTF2A1L Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F048584 0.2 ENCODE 26.2 +55.7 55749 2.0 GATA3 CTBP1 MAX DPF2 STON1-GTF2A1L GTF2A1L STON1 RNU6-282P PPP1R21 GC02M048558
GH02F048572 0.4 ENCODE 26 +43.1 43088 0.6 SOX13 PKNOX1 SAP130 ZFP64 ARID4B RAD21 TEAD3 CTBP1 MAFK GATAD2A STON1-GTF2A1L GTF2A1L STON1 RNU6-282P PPP1R21 GC02M048558
GH02F048507 1 FANTOM5 Ensembl ENCODE 21.3 -20.5 -20473 3.3 PKNOX1 ATF1 ARID4B ETS1 ELK1 GATA2 SMARCB1 MEF2D SMARCA4 PBX2 PPP1R21 STON1-GTF2A1L STON1 GC02M048502 RNU6-282P
GH02F048605 0.6 ENCODE 17.8 +76.1 76056 1.0 HDAC1 PKNOX1 CBX3 ATF1 ARNT TBL1XR1 CHAMP1 GATA2 CREM NCOA1 STON1-GTF2A1L RNU6-282P PPP1R21 FOXN2 GTF2A1L GC02M048558
GH02F048351 0.8 Ensembl ENCODE 12.2 -176.8 -176825 3.4 GATAD2A ESRRA NR2F1 JUN RAD21 CHAMP1 YY1 NR2F2 CEBPA ZBTB33 PPP1R21 STON1-GTF2A1L GTF2A1L FOXN2 GC02M048341 RNU4-49P GC02M048365
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around STON1-GTF2A1L on UCSC Golden Path with GeneCards custom track

Promoters for STON1-GTF2A1L Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001043965 675 2401 CTCF KLF1 TEAD4 INSM2 FEZF1 EBF1 ZNF48 ZIC2 GLIS2 ZBTB48

Genomic Location for STON1-GTF2A1L Gene

Chromosome:
2
Start:
48,529,925 bp from pter
End:
48,776,517 bp from pter
Size:
246,593 bases
Orientation:
Plus strand

Genomic View for STON1-GTF2A1L Gene

Genes around STON1-GTF2A1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STON1-GTF2A1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STON1-GTF2A1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STON1-GTF2A1L Gene

Proteins for STON1-GTF2A1L Gene

  • Protein details for STON1-GTF2A1L Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0A6YYG5
    Recommended name:
    Protein STON1-GTF2A1L
    Protein Accession:
    A0A0A6YYG5

    Protein attributes for STON1-GTF2A1L Gene

    Size:
    1135 amino acids
    Molecular mass:
    127325 Da
    Quaternary structure:
    No Data Available
  • Protein details for STON1-GTF2A1L Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    Q53S48
    Recommended name:
    Protein STON1-GTF2A1L
    Protein Accession:
    Q53S48

    Protein attributes for STON1-GTF2A1L Gene

    Size:
    1182 amino acids
    Molecular mass:
    132083 Da
    Quaternary structure:
    No Data Available

neXtProt entry for STON1-GTF2A1L Gene

Protein Expression for STON1-GTF2A1L Gene

Post-translational modifications for STON1-GTF2A1L Gene

No Post-translational modifications

Other Protein References for STON1-GTF2A1L Gene

No data available for DME Specific Peptides for STON1-GTF2A1L Gene

Domains & Families for STON1-GTF2A1L Gene

Suggested Antigen Peptide Sequences for STON1-GTF2A1L Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STON1-GTF2A1L: view

No data available for Gene Families and UniProtKB/Swiss-Prot for STON1-GTF2A1L Gene

Function for STON1-GTF2A1L Gene

genes like me logo Genes that share phenotypes with STON1-GTF2A1L: view

Animal Model Products

miRNA for STON1-GTF2A1L Gene

miRTarBase miRNAs that target STON1-GTF2A1L

Clone Products

Flow Cytometry 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 STON1-GTF2A1L Gene

Localization for STON1-GTF2A1L Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for STON1-GTF2A1L Gene

Pathways & Interactions for STON1-GTF2A1L Gene

SuperPathways for STON1-GTF2A1L Gene

No Data Available

Interacting Proteins for STON1-GTF2A1L Gene

Gene Ontology (GO) - Biological Process for STON1-GTF2A1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006367 transcription initiation from RNA polymerase II promoter IEA --
GO:0006897 endocytosis IEA --
genes like me logo Genes that share ontologies with STON1-GTF2A1L: view

No data available for Pathways by source and SIGNOR curated interactions for STON1-GTF2A1L Gene

Transcripts for STON1-GTF2A1L Gene

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for STON1-GTF2A1L Gene

No ASD Table

Relevant External Links for STON1-GTF2A1L Gene

GeneLoc Exon Structure for
STON1-GTF2A1L
ECgene alternative splicing isoforms for
STON1-GTF2A1L

Expression for STON1-GTF2A1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STON1-GTF2A1L Gene

mRNA differential expression in normal tissues according to GTEx for STON1-GTF2A1L Gene

This gene is overexpressed in Colon - Sigmoid (x7.6), Esophagus - Gastroesophageal Junction (x6.3), Esophagus - Muscularis (x5.2), and Bladder (x4.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from MaxQB and MOPED for STON1-GTF2A1L Gene



genes like me logo Genes that share expression patterns with STON1-GTF2A1L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for STON1-GTF2A1L Gene

Orthologs for STON1-GTF2A1L Gene

This gene was present in the common ancestor of animals.

Orthologs for STON1-GTF2A1L Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia GTF2A1L 35
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 35
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ston1 35
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia STON1 35
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves STON1 35
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gtf2a1l 35
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stnB 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-41 35
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5149 35
  • 25 (a)
OneToMany
Species where no ortholog for STON1-GTF2A1L was found in the sources mined by GeneCards:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for STON1-GTF2A1L Gene

ENSEMBL:
Gene Tree for STON1-GTF2A1L (if available)
TreeFam:
Gene Tree for STON1-GTF2A1L (if available)

Paralogs for STON1-GTF2A1L Gene

Paralogs for STON1-GTF2A1L Gene

(4) SIMAP similar genes for STON1-GTF2A1L Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with STON1-GTF2A1L: view

Variants for STON1-GTF2A1L Gene

Sequence variations from dbSNP and Humsavar for STON1-GTF2A1L Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121912518 Pathogenic 48,688,064(-) CACCG(A/G)TTTCA intron-variant, reference, missense
rs121912519 Pathogenic 48,688,084(-) AAAAT(A/G)GCAAT intron-variant, reference, missense
rs121912520 Pathogenic 48,688,020(-) CAGCT(C/G)CCTTC intron-variant, reference, missense
rs121912521 Pathogenic 48,688,067(-) CTTCA(C/T)CGATT intron-variant, reference, missense
rs121912522 Pathogenic 48,688,082(-) AATGG(C/T)AATCC intron-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for STON1-GTF2A1L Gene

Variant ID Type Subtype PubMed ID
dgv1120e212 CNV loss 25503493
dgv1121e212 CNV loss 25503493
dgv1906n106 CNV deletion 24896259
dgv6852n54 CNV loss 21841781
dgv6853n54 CNV loss 21841781
dgv6854n54 CNV loss 21841781
dgv89n73 CNV deletion 24416366
esv1298688 CNV deletion 17803354
esv1496764 CNV deletion 17803354
esv1633121 CNV deletion 17803354
esv2354047 CNV deletion 18987734
esv24510 CNV loss 19812545
esv2631205 CNV deletion 19546169
esv2668681 CNV deletion 23128226
esv2676191 CNV deletion 23128226
esv2678523 CNV deletion 23128226
esv2720033 CNV deletion 23290073
esv2720034 CNV deletion 23290073
esv2720035 CNV deletion 23290073
esv275164 CNV gain+loss 21479260
esv2762553 CNV gain 21179565
esv2844458 CNV deletion 24192839
esv2844569 CNV deletion 24192839
esv3556321 CNV deletion 23714750
esv3556332 CNV deletion 23714750
esv3556345 CNV deletion 23714750
esv3590653 CNV loss 21293372
esv3590654 CNV gain 21293372
esv3590655 CNV gain 21293372
esv3590656 CNV loss 21293372
esv3590657 CNV loss 21293372
esv3590658 CNV gain 21293372
esv3590660 CNV loss 21293372
esv3660 CNV loss 18987735
esv8396 CNV loss 19470904
esv990475 CNV deletion 20482838
esv991713 CNV deletion 20482838
esv997251 CNV loss 20482838
nsv1000419 CNV loss 25217958
nsv1002793 CNV gain 25217958
nsv1071992 CNV deletion 25765185
nsv1126549 CNV deletion 24896259
nsv1150432 CNV deletion 26484159
nsv1151004 CNV deletion 26484159
nsv2719 CNV deletion 18451855
nsv581776 CNV loss 21841781
nsv581783 CNV loss 21841781
nsv581787 CNV loss 21841781
nsv581788 CNV loss 21841781
nsv817851 CNV gain 17921354
nsv829197 CNV gain 20364138
nsv833981 CNV loss 17160897
nsv833992 CNV gain 17160897
nsv954153 CNV deletion 24416366
nsv954239 CNV deletion 24416366

Variation tolerance for STON1-GTF2A1L Gene

Residual Variation Intolerance Score: 44.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.79; 95.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STON1-GTF2A1L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STON1-GTF2A1L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STON1-GTF2A1L Gene

Disorders for STON1-GTF2A1L Gene

Relevant External Links for STON1-GTF2A1L

Genetic Association Database (GAD)
STON1-GTF2A1L
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STON1-GTF2A1L

No disorders were found for STON1-GTF2A1L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for STON1-GTF2A1L Gene

Publications for STON1-GTF2A1L Gene

  1. Identification of a general transcription factor TFIIAalpha/beta homolog selectively expressed in testis. (PMID: 10364255) Upadhyaya A.B. … DeJong J. (J. Biol. Chem. 1999) 2 3 22 64
  2. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. (PMID: 21151128) Chen Z.J. … Zhao Y. (Nat. Genet. 2011) 3 46 64
  3. TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose expression is up-regulated with other general transcription factors during spermatogenesis in the mouse. (PMID: 11159353) Han S. … DeJong J. (Biol. Reprod. 2001) 2 3 64
  4. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T. … Xu R. (Neurobiol. Aging 2014) 3 64
  5. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. (PMID: 22885925) Shi Y. … Chen Z.J. (Nat. Genet. 2012) 3 64

Products for STON1-GTF2A1L Gene

Sources for STON1-GTF2A1L Gene

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