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Aliases for ADO Gene

Aliases for ADO Gene

  • 2-Aminoethanethiol Dioxygenase 2 3 3 5
  • Cysteamine Dioxygenase 2 3 4
  • 2-Aminoethanethiol (Cysteamine) Dioxygenase 2 3
  • C10orf22 3 4
  • Cysteamine (2-Aminoethanethiol) Dioxygenase (ADO) 3
  • Chromosome 10 Open Reading Frame 22 2
  • EC 1.13.11.19 4

External Ids for ADO Gene

Previous HGNC Symbols for ADO Gene

  • C10orf22

Previous GeneCards Identifiers for ADO Gene

  • GC10P064235
  • GC10P064564
  • GC10P058556

Summaries for ADO Gene

Entrez Gene Summary for ADO Gene

  • Human thiol dioxygenases include cysteine dioxygenase (CDO; MIM 603943) and cysteamine (2-aminoethanethiol) dioxygenase (ADO; EC 1.13.11.19). CDO adds 2 oxygen atoms to free cysteine, whereas ADO adds 2 oxygen atoms to free cysteamine to form hypotaurine (Dominy et al., 2007 [PubMed 17581819]).[supplied by OMIM, Mar 2008]

GeneCards Summary for ADO Gene

ADO (2-Aminoethanethiol Dioxygenase) is a Protein Coding gene. Diseases associated with ADO include Patent Ductus Arteriosus 1 and Heart Septal Defect. Among its related pathways are Metabolism and Sulfur amino acid metabolism. Gene Ontology (GO) annotations related to this gene include cysteamine dioxygenase activity.

Additional gene information for ADO 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 ADO Gene

Genomics for ADO Gene

GeneHancer (GH) Regulatory Elements for ADO Gene

Promoters and enhancers for ADO 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
GH10J062802 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 668.1 +0.0 16 3.7 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF213 E2F8 ADO ENSG00000238280 ZNF365
GH10J062732 Enhancer 1.3 FANTOM5 Ensembl ENCODE 23 -71.3 -71337 1.7 PKNOX1 SMAD1 RB1 BMI1 YBX1 BATF KLF5 IRF4 ZNF143 ZNF207 EGR2 ADO ENSG00000238280 NRBF2 ALDH7A1P4 LOC105378327
GH10J062635 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 18.9 -167.6 -167572 4 HDGF PKNOX1 SMAD1 RB1 STAT5A BATF KLF5 IRF4 ZNF143 ATF7 EGR2 ADO ENSG00000238280 NRBF2 LOC105378327 GC10M062430 ZNF365
GH10J062759 Enhancer 1.1 FANTOM5 Ensembl ENCODE 24.6 -44.1 -44108 1.9 RXRA JUN BACH1 MAFG NR2F2 YY1 MAFF ZNF316 NFE2 FOS EGR2 ADO ENSG00000238280 NRBF2 ALDH7A1P4 GC10P062785
GH10J062742 Enhancer 1.1 FANTOM5 Ensembl ENCODE 23.8 -62.1 -62069 0.6 TRIM22 EBF1 MEF2B DPF2 ATF2 IKZF1 EED NBN ATF7 IKZF2 ALDH7A1P4 EGR2 ADO ENSG00000238280 NRBF2 GC10P062785
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADO gene promoter:
  • CREB
  • deltaCREB
  • NF-kappaB1
  • NF-kappaB
  • Gfi-1
  • E47
  • Tal-1
  • HNF-1
  • HNF-1A

Genomic Locations for ADO Gene

Genomic Locations for ADO Gene
chr10:62,804,756-62,808,483
(GRCh38/hg38)
Size:
3,728 bases
Orientation:
Plus strand
chr10:64,564,516-64,568,239
(GRCh37/hg19)
Size:
3,724 bases
Orientation:
Plus strand

Genomic View for ADO Gene

Genes around ADO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ADO Gene

Proteins for ADO Gene

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

    Protein Symbol:
    Q96SZ5-AEDO_HUMAN
    Recommended name:
    2-aminoethanethiol dioxygenase
    Protein Accession:
    Q96SZ5
    Secondary Accessions:
    • B1AL29

    Protein attributes for ADO Gene

    Size:
    270 amino acids
    Molecular mass:
    29751 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB55123.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ADO Gene

Post-translational modifications for ADO Gene

  • Ubiquitination at posLast=5555
  • Modification sites at PhosphoSitePlus

Other Protein References for ADO Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ADO Gene

Domains & Families for ADO Gene

Gene Families for ADO Gene

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

Protein Domains for ADO Gene

Suggested Antigen Peptide Sequences for ADO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ADO: view

No data available for UniProtKB/Swiss-Prot for ADO Gene

Function for ADO Gene

Molecular function for ADO Gene

UniProtKB/Swiss-Prot CatalyticActivity:
2-aminoethanethiol + O(2) = hypotaurine.

Enzyme Numbers (IUBMB) for ADO Gene

Phenotypes From GWAS Catalog for ADO Gene

Gene Ontology (GO) - Molecular Function for ADO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA --
GO:0046872 metal ion binding IEA --
GO:0047800 cysteamine dioxygenase activity TAS --
GO:0051213 dioxygenase activity IEA --
genes like me logo Genes that share ontologies with ADO: view
genes like me logo Genes that share phenotypes with ADO: view

Animal Model Products

CRISPR Products

miRNA for ADO Gene

miRTarBase miRNAs that target ADO

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADO

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADO Gene

Localization for ADO 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 ADO gene
Compartment Confidence
cytosol 5
mitochondrion 4
extracellular 2
plasma membrane 1
peroxisome 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ADO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ADO: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for ADO Gene

Pathways & Interactions for ADO Gene

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

Pathways by source for ADO Gene

Gene Ontology (GO) - Biological Process for ADO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000098 sulfur amino acid catabolic process TAS --
GO:0055114 oxidation-reduction process IBA --
genes like me logo Genes that share ontologies with ADO: view

No data available for SIGNOR curated interactions for ADO Gene

Drugs & Compounds for ADO Gene

(3) Drugs for ADO Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteamine Approved, Investigational Pharma 27
Oxygen Approved, Vet_approved Pharma 0
Hypotaurine Pharma Non-selective endogenous glycine receptor agonist 0

(1) Additional Compounds for ADO Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
genes like me logo Genes that share compounds with ADO: view

Transcripts for ADO Gene

mRNA/cDNA for ADO Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(173) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ADO Gene

2-aminoethanethiol (cysteamine) dioxygenase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADO

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

No ASD Table

Relevant External Links for ADO Gene

GeneLoc Exon Structure for
ADO
ECgene alternative splicing isoforms for
ADO

Expression for ADO Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADO Gene

This gene is overexpressed in Uterus (9.0) and Lymph node (6.2).

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



Protein tissue co-expression partners for ADO Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADO Gene:

ADO

SOURCE GeneReport for Unigene cluster for ADO Gene:

Hs.99821

Evidence on tissue expression from TISSUES for ADO Gene

  • Nervous system(4.8)
  • Lung(3.1)
  • Heart(2.7)
  • Muscle(2.7)
  • Blood(2.3)
genes like me logo Genes that share expression patterns with ADO: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADO Gene

Orthologs for ADO Gene

This gene was present in the common ancestor of animals.

Orthologs for ADO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADO 34 33
  • 99.88 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADO 34
  • 93 (a)
OneToOne
LOC610687 33
  • 92.1 (n)
cow
(Bos Taurus)
Mammalia ADO 34 33
  • 90.74 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ado 16 34 33
  • 87.5 (n)
rat
(Rattus norvegicus)
Mammalia Ado 33
  • 85.55 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ADO 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ADO 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ado 33
  • 65.59 (n)
zebrafish
(Danio rerio)
Actinopterygii adoa 34 33
  • 60.57 (n)
OneToMany
adob 34
  • 59 (a)
OneToMany
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006807 33
  • 54.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7550 34 33
  • 47.72 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y50D4C.6 34
  • 25 (a)
OneToOne
Species where no ortholog for ADO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for ADO Gene

ENSEMBL:
Gene Tree for ADO (if available)
TreeFam:
Gene Tree for ADO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADO: view image

Paralogs for ADO Gene

No data available for Paralogs for ADO Gene

Variants for ADO Gene

Sequence variations from dbSNP and Humsavar for ADO Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000279857 -- 62,804,726(+) C/T upstream_transcript_variant
rs1000337667 -- 62,806,446(+) G/A 3_prime_UTR_variant
rs1000666380 -- 62,804,875(+) G/A 5_prime_UTR_variant
rs1000823475 -- 62,804,739(+) T/C upstream_transcript_variant
rs1001685158 -- 62,805,035(+) C/T 5_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv249e212 CNV loss 25503493

Variation tolerance for ADO Gene

Residual Variation Intolerance Score: 56.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.91; 93.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADO Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADO

SNP Genotyping and Copy Number Assay Products

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

Disorders for ADO Gene

MalaCards: The human disease database

(2) MalaCards diseases for ADO Gene - From: DISEASES

Disorder Aliases PubMed IDs
patent ductus arteriosus 1
  • pda1
heart septal defect
  • cardiac septal defects
- elite association - COSMIC cancer census association via MalaCards
Search ADO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ADO

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 ADO: view

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

Publications for ADO Gene

  1. Discovery and characterization of a second mammalian thiol dioxygenase, cysteamine dioxygenase. (PMID: 17581819) Dominy JE … Stipanuk MH (The Journal of biological chemistry 2007) 2 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ADO Gene

Sources for ADO Gene

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