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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 31215118
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 31570705
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 31570705
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 33449341 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder CTD_human_DG 24781735
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 23013882
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 19427350
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 19427350
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bone Diseases Bone disease Pubtator 35412619 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain Neoplasms BEFREE 11095486
★☆☆☆☆
Found in Text Mining only