ADO 2-aminoethanethiol dioxygenase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADOprovided by HGNC
Official Full Name: 2-aminoethanethiol dioxygenaseprovided by HGNC
Primary source: HGNC:HGNC:23506
See related: Ensembl:ENSG00000181915 MIM:611392; AllianceGenome:HGNC:23506
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: C10orf22
Summary: 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]
Orthologs: mouse all
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Genomic context

Location:: 10q21.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (62804720..62808479)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (63662863..63666622)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (64564480..64568239)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Crystal structure of human cysteamine dioxygenase provides a structural rationale for its function as an oxygen sensor.
Title: Crystal structure of human cysteamine dioxygenase provides a structural rationale for its function as an oxygen sensor.
Characterization of the nonheme iron center of cysteamine dioxygenase and its interaction with substrates.
Title: Characterization of the nonheme iron center of cysteamine dioxygenase and its interaction with substrates.
Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.
Title: Variants in IL23R-C1orf141 and ADO-ZNF365-EGR2 are associated with susceptibility to Vogt-Koyanagi-Harada disease in Japanese population.
this study shows in human cells that ADO regulates RGS4/5 (regulator of G protein signaling) N-degron substrates, modulates G protein-coupled calcium ion signals and mitogen-activated protein kinase activity, and that its activity extends to other N-cysteine proteins including the angiogenic cytokine interleukin-32
Title: Conserved N-terminal cysteine dioxygenases transduce responses to hypoxia in animals and plants.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
when endogenous expression of the human ADO ortholog C10orf22 in HepG2/C3A cells was reduced by RNA-mediated interference, hypotaurine production decreased
Title: Discovery and characterization of a second mammalian thiol dioxygenase, cysteamine dioxygenase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants near TARDBP and EGR2 are associated with susceptibility to Ewing sarcoma. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH1566 (e-PCR)
- UniSTS:25200

SGC32008 (e-PCR)
- UniSTS:1705

SHGC-32854 (e-PCR)
- UniSTS:63441

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cysteamine dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables cysteamine dioxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables iron ion binding	IDA Inferred from Direct Assay more info	PubMed
enables iron ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to hypoxia	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: 2-aminoethanethiol dioxygenase

Names: 2-aminoethanethiol (cysteamine) dioxygenase; cysteamine (2-aminoethanethiol) dioxygenase (ADO); cysteamine dioxygenase

NP_116193.2

EC 1.13.11.19

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.