Hs00484101_cn

• Gene Symbol: DIO2
• Assay Reference Genome Location: Chr.14:80201883 on build GRCh38
• Cytoband: 14q31.1

Target Gene Details

• Entrez Gene ID: 1734
• Gene Name: deiodinase, iodothyronine, type II
• Gene Aliases: 5DII, D2, DIOII, SelY, TXDI2
• Location: Chr.14:80197525-80231054 on Build GRCh38
• Assay Gene Location: Within Exon 7

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DIO2	NM_000793.5	4	2014	NP_000784.2
	NM_001007023.4	3	1891	NP_001007024.1
	NM_001242502.2	4	2025	NP_001229431.1
	NM_001242503.2	3	1917	NP_001229432.1
	NM_001324462.1	3	2030	NP_001311391.1
	NM_013989.4	2	1783	NP_054644.1
	AF093774.1	2	1783	AAC95470.1
	BC063118.1	2	1666	AAH63118.1
	BC136514.1	2	1653
	U53506.1	2	1762	AAC50663.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1045241	Chr.14:79419018 - 80267858 on Build GRCh38	Gain	DIO2-AS1 DIO2 NRXN3

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

selenocysteine incorporation
thyroid hormone generation
thyroid hormone metabolic process
hormone biosynthetic process
oxidation-reduction process

Function(s)

thyroxine 5'-deiodinase activity
selenium binding
ubiquitin protein ligase binding