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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.

Additional gene information for STON1-GTF2A1L Gene

No data available for CIViC summary , 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

GeneHancer (GH) Regulatory Elements for STON1-GTF2A1L Gene

Promoters and enhancers for STON1-GTF2A1L 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
GH02I048529 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.7 685 3.2 INSM2 FEZF1 ZBTB40 ZNF48 ZNF335 GLIS2 ZNF302 EGR1 RCOR1 ZNF263 STON1 STON1-GTF2A1L PPP1R21 FOXN2 GTF2A1L GC02P048542
GH02I048568 Promoter 0.5 EPDnew 561.8 +39.0 39044 0.1 STON1-GTF2A1L STON1 GC02M048558 GTF2A1L
GH02I048580 Promoter 0.5 EPDnew 550.2 +50.7 50688 0.1 STON1-GTF2A1L RNU6-282P PPP1R21 GC02M048558 GTF2A1L STON1
GH02I048507 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.3 -20.5 -20473 3.3 PKNOX1 ATF1 FOXA2 ARID4B ETS1 TCF12 ZNF766 CBX5 REST ZNF592 PPP1R21 STON1-GTF2A1L MSH6 STON1 GC02M048502 RNU6-282P
GH02I048572 Enhancer 0.7 ENCODE 26 +43.1 43087 0.6 SOX13 PKNOX1 FOXA2 SAP130 NFIB ZFP64 ARID4B RAD21 TEAD3 CTBP1 STON1-GTF2A1L GTF2A1L STON1 RNU6-282P PPP1R21 GC02M048558
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

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

Top Transcription factor binding sites by QIAGEN in the STON1-GTF2A1L gene promoter:

Genomic Locations for STON1-GTF2A1L Gene

Genomic Locations for STON1-GTF2A1L Gene
chr2:48,529,925-48,776,517
(GRCh38/hg38)
Size:
246,593 bases
Orientation:
Plus strand
chr2:48,757,064-49,003,656
(GRCh37/hg19)

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:
    STON1-GTF2A1L readthrough
    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

Gene Families for STON1-GTF2A1L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 UniProtKB/Swiss-Prot for STON1-GTF2A1L Gene

Function for STON1-GTF2A1L Gene

Phenotypes From GWAS Catalog 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

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

Gene Ontology (GO) - Cellular Components for STON1-GTF2A1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005672 transcription factor TFIIA complex IEA --
genes like me logo Genes that share ontologies with STON1-GTF2A1L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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:0006366 transcription by RNA polymerase II IBA --
GO:0006367 transcription initiation from RNA polymerase II promoter IEA --
GO:0006897 endocytosis IEA --
GO:0030100 regulation of endocytosis IEA --
GO:1903506 regulation of nucleic acid-templated transcription 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

Drugs & Compounds for STON1-GTF2A1L Gene

No Compound Related Data Available

Transcripts for STON1-GTF2A1L Gene

Clone 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 CGAP 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34
  • 86 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 85 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ston1 34
  • 76 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia STON1 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves STON1 34
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 60 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii gtf2a1l 34
  • 39 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta stnB 34
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-41 34
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5149 34
  • 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 Variation AA Info Type
rs10176989 benign, Leydig cell agenesis, Hypergonadotropic hypogonadism, Gonadotropin-independent familial sexual precocity 48,755,729(+) C/A genic_downstream_transcript_variant, intron_variant
rs10495956 benign, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis, Hypergonadotropic hypogonadism 48,687,337(+) C/T genic_downstream_transcript_variant, intron_variant
rs11125179 benign, not specified, Hypergonadotropic hypogonadism, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis 48,688,732(+) A/G genic_downstream_transcript_variant, intron_variant
rs111834744 uncertain-significance, Gonadotropin-independent familial sexual precocity 48,713,934(+) A/ genic_downstream_transcript_variant, intron_variant
rs114320052 likely-benign, Hypergonadotropic hypogonadism, Gonadotropin-independent familial sexual precocity, Leydig cell agenesis 48,688,437(+) C/T genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for 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 AB … DeJong J (The Journal of biological chemistry 1999) 2 3 22 58
  2. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. (PMID: 21151128) Chen ZJ … Zhao Y (Nature genetics 2011) 3 44 58
  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 SY … DeJong J (Biology of reproduction 2001) 2 3 58
  4. Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. (PMID: 24529757) Xie T … Xu R (Neurobiology of aging 2014) 3 58
  5. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. (PMID: 22885925) Shi Y … Chen ZJ (Nature genetics 2012) 3 58

Products for STON1-GTF2A1L Gene

Sources for STON1-GTF2A1L Gene

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