Hs02159456_cn

• Gene Symbol: DIO2
• Assay Reference Genome Location: Chr.14:80202952 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	945	NP_000784.2
	NM_001007023.4	3	822	NP_001007024.1
	NM_001242502.2	4	956	NP_001229431.1
	NM_001242503.2	3	848	NP_001229432.1
	NM_001324462.1	3	961	NP_001311391.1
	NM_013989.4	2	714	NP_054644.1
	AB041843.1	3	695	BAB16838.1
	AB041844.1	4	642	BAB16839.1
	AF093774.1	2	714	AAC95470.1
	AK292210.1	4	945
	AK311603.1	3	535
	BC063118.1	2	597	AAH63118.1
	BC074882.2	2	590	AAH74882.1
	BC136514.1	2	584
	JK546617.1	3	872
	U53506.1	2	693	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 NRXN3 DIO2

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