• Gene id: 1734

Gene Summary

• Gene Symbol: DIO2   Gene   UCSC   Ensembl
• Aliases: 5DII, D2, DIOII, SelY, TXDI2
• Gene name: iodothyronine deiodinase 2
• Alternate names: type II iodothyronine deiodinase, deiodinase, iodothyronine type II, deiodinase-2, deiodonase-2, thyroxine deiodinase, type II, type 2 DI, type 2 iodothyronine deiodinase, type-II 5'-deiodinase, type-II 5'deiodinase,
• Gene location: 14q31.1 (80231056: 80197525)     Exons: 7     NC_000014.9
• Gene summary(Entrez): 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
• OMIM: 601413

Protein Summary

• Protein general information: Q92813  
  • Name: Type II iodothyronine deiodinase (EC 1.21.99.4) (5DII) (DIOII) (Type 2 DI) (Type II 5' deiodinase)
  • Length: 273  
  • Mass: 30552
  • 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
• Sequence:

  MGILSVDLLITLQILPVFFSNCLFLALYDSVILLKHVVLLLSRSKSTRGEWRRMLTSEGLRCVWKSFLLDAYKQV
  KLGEDAPNSSVVHVSSTEGGDNSGNGTQEKIAEGATCHLLDFASPERPLVVNFGSATUPPFTSQLPAFRKLVEEF
  SSVADFLLVYIDEAHPSDGWAIPGDSSLSFEVKKHQNQEDRCAAAQQLLERFSLPPQCRVVADRMDNNANIAYGV
  AFERVCIVQRQKIAYLGGKGPFSYNLQEVRHWLEKNFSKRUKKTRLAG

• Structural information:
  • Interpro: IPR000643  IPR008261  IPR036249  
  • Prosite: PS01205
• Other Databases: GeneCards:  DIO2  Malacards:  DIO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0033798	thyroxine 5-deiodinase activity	IDA	molecular function
GO:0004800	thyroxine 5'-deiodinase activity	IBA	molecular function
GO:0042403	thyroid hormone metabolic process	IBA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0004800	thyroxine 5'-deiodinase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0042446	hormone biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008430	selenium binding	TAS	molecular function
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0004800	thyroxine 5'-deiodinase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0042404	thyroid hormone catabolic process	IEA	biological process
GO:0004800	thyroxine 5'-deiodinase activity	IEA	molecular function
GO:0120162	positive regulation of cold-induced thermogenesis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0042403	thyroid hormone metabolic process	IDA	biological process
GO:0016020	membrane	IC	cellular component
GO:0008430	selenium binding	IC	molecular function
GO:0004800	thyroxine 5'-deiodinase activity	IDA	molecular function
GO:0006590	thyroid hormone generation	TAS	biological process
GO:0004800	thyroxine 5'-deiodinase activity	TAS	molecular function
GO:0001514	selenocysteine incorporation	NAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04919	Thyroid hormone signaling pathway

Diseases

Associated diseases	References
Hypertension	PMID:17224473
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881