Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1734
Gene name Gene Name - the full gene name approved by the HGNC.
Iodothyronine deiodinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DIO2
Synonyms (NCBI Gene) Gene synonyms aliases
5DII, D2, DIOII, SELENOY, SelY, TXDI2
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q31.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601413 2884 ENSG00000211448
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in breast cancer N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease 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