Gene Gene information from NCBI Gene database.
Entrez ID 1734
Gene name Iodothyronine deiodinase 2
Gene symbol DIO2
Synonyms (NCBI Gene)
5DIID2DIOIISELENOYSelYTXDI2
Chromosome 14
Chromosome location 14q31.1
Summary The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3`,5`-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3`-triiodothyronine, T3) by outer ring 5`-deiodin
miRNA miRNA information provided by mirtarbase database.
595
miRTarBase ID miRNA Experiments Reference
MIRT668748 hsa-miR-4453 HITS-CLIP 23824327
MIRT668747 hsa-miR-4538 HITS-CLIP 23824327
MIRT668746 hsa-miR-5193 HITS-CLIP 23824327
MIRT668745 hsa-miR-130b-5p HITS-CLIP 23824327
MIRT668744 hsa-miR-3124-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0001514 Process Selenocysteine incorporation NAS 9837913
GO:0004800 Function Thyroxine 5'-deiodinase activity IBA
GO:0004800 Function Thyroxine 5'-deiodinase activity IDA 10403186, 11108274, 12586771, 19651899
GO:0004800 Function Thyroxine 5'-deiodinase activity IEA
GO:0004800 Function Thyroxine 5'-deiodinase activity TAS 9837913
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601413 2884 ENSG00000211448
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92813
Protein name Type II iodothyronine deiodinase (EC 1.21.99.4) (5DII) (DIOII) (Type 2 DI) (Type-II 5'-deiodinase)
Protein function Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:12586771, PubMed:11108274, PubMed:10403186, PubMed:18821722). Catalyzes the deiodination of L-thyrox
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00837 T4_deiodinase 4 262 Iodothyronine deiodinase Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in the lung, trachea, kidney, heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain (PubMed:11165050, PubMed:8755651). Isoform 2 is expressed in the brain, heart, kidney and trachea
Sequence
Sequence length 273
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hormone signaling
Thyroid hormone signaling pathway
  Regulation of thyroid hormone activity
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Levothyroxine response other rs225014, rs225015 RCV003317018
RCV003317019
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Inhibit 37968664
Acute Lung Injury Associate 35137147
AIDS Associated Nephropathy Associate 22259052
Autism Spectrum Disorder Associate 33449341
Bone Diseases Associate 35412619
Breast Neoplasms Associate 36077333
Carcinoma Hepatocellular Associate 26199857, 37059745
Cartilage Diseases Associate 35412619
Chemical and Drug Induced Liver Injury Associate 37059745
Cognition Disorders Associate 33449341