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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DIO2 Gene

protein-coding GIFtS: 57
GCID: GC14M080663

deiodinase, iodothyronine, type II

Explore 37 diseases affiliated with
DIO2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Deiodinase, Iodothyronine, Type II¹ ²		D2² ⁵
TXDI2¹ ² ³ ⁵		Thyroxine Deiodinase, Type II²
SelY¹ ²		Type 2 Iodothyronine Deiodinase²
Type 2 DI² ³		Type II Iodothyronine Deiodinase²
Type-II 5'-Deiodinase² ³		Type-II 5'Deiodinase²
5DII² ³		ITDI2³
DIOII² ³		EC 1.97.1⁸
EC 1.97.1.10³ ⁸

External Ids:	HGNC: 2884¹	Entrez Gene: 1734²	Ensembl: ENSG00000211448⁷	OMIM: 601413⁵	UniProtKB: Q92813³

Export aliases for DIO2 gene to outside databases

Previous GC identifers: GC14M078169 GC14M074480 GC14M078653 GC14M079733 GC14M060829

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DIO2:

The protein encoded by this gene belongs to the iodothyronine deiodinase family. It activates thyroid hormone by

converting the prohormone thyroxine (T4) by outer ring deiodination (ORD) to bioactive 3,3',5-triiodothyronine (T3).

It is highly expressed in the thyroid, and may contribute significantly to the relative increase in thyroidal T3

production in patients with Graves disease and thyroid adenomas. This protein contains selenocysteine (Sec) residues

encoded by the UGA codon, which normally signals translation termination. The 3' UTR of Sec-containing genes have a

common stem-loop structure, the sec insertion sequence (SECIS), which is necessary for the recognition of UGA as a Sec

codon rather than as a stop signal. Alternative splicing results in multiple transcript variants encoding different

isoforms. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813

Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine).

Essential for providing the brain with appropriate levels of T3 during the critical period of development

Gene Wiki entry for DIO2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DIO2 gene promoter:
AP-1 deltaCREB
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DIO2 promoter sequence

Search SABiosciences Chromatin IP Primers for DIO2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DIO2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.2-q24.3 Ensembl cytogenetic band: 14q31.1 HGNC cytogenetic band: 14q24.2-q24.3

DIO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DIO2 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M080663: view genomic region (about GC identifiers)

Start:	80,663,869 bp from pter	End:	80,854,100 bp from pter
Size:	190,232 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813 (See protein sequence)

Recommended Name: Type II iodothyronine deiodinase

Size: 273 amino acids; 30552 Da

Subunit: Interacts with USP20 and USP33. Interacts with MARCH6

Subcellular location: Membrane; Single-pass membrane protein (Potential)

Sequence caution: Sequence=AAC95470.1; Type=Erroneous initiation;

Secondary accessions: B9EGK0 G3V315 Q6B0A3 Q9HCP8 Q9P1W4 Q9UDZ1

Alternative splicing: 2 isoforms: Q92813-1 Q92813-2 (Has a Sec in positions 169 and 302)

Explore the universe of human proteins at neXtProt for DIO2: NX_Q92813

Post-translational modifications:

Ubiquitinated by MARCH6, leading to its degradation by the proteasome. Deubiquitinated by USP20 and USP33¹

View neXtProt modification sites for NX_Q92813

4/9 DME Specific Peptides for DIO2 (Q92813) (see all 9)

CHLLDFA

YLGGKGPF

ADFLLVYI

EAHPSDGW

DIO2 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins (5 alternative transcripts):

NP_000784.2 NP_001007024.1 NP_001229431.1 NP_001229432.1 NP_054644.1

ENSEMBL proteins:

ENSP00000405854 ENSP00000451419 ENSP00000451971 ENSP00000450980 ENSP00000450547

ENSP00000450781 ENSP00000451136 ENSP00000451339 ENSP00000451265 ENSP00000411438

Reactome Protein details: Q92813
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	Uscn Proteins for DIO2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0016020	membrane	IC	9837913
GO:0016021	integral to membrane	IEA	--

DIO2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DIO2 for domains About GeneDecksing

3 InterPro domains/families:

IPR000643 Iodothyronine_deiodinase

IPR008261 Iodothyronine_deiodinase_AS

IPR012336 Thioredoxin-like_fold

Graphical View of Domain Structure for InterPro Entry Q92813

ProtoNet protein and cluster: Q92813

1 Blocks protein family: IPB008261 Iodothyronine deiodinase

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813

Similarity: Belongs to the iodothyronine deiodinase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813

Function: Responsible for the deiodination of T4 (3,5,3',5'-tetraiodothyronine) into T3 (3,5,3'-triiodothyronine).

Essential for providing the brain with appropriate levels of T3 during the critical period of development

Catalytic activity: 3,5,3'-triiodo-L-thyronine + iodide + A + H(+) = L-thyroxine + AH(2)

Genatlas biochemistry entry for DIO2:

iodothyronine 5'-deiodinase type II,selenocysteine containing,expressed in thyroid,involved in the regulation of local

T4 to T3 conversion

Enzyme Numbers (IUBMB): EC 1.97.1.10¹ ² EC 1.97.1²

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DIO2

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004800	thyroxine 5'-deiodinase activity	TAS	9837913
GO:0008430	selenium binding	IC	9837913
GO:0031625	ubiquitin protein ligase binding	IPI	19651899

DIO2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Dio2^tm1Vag for DIO2
     4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Dio2):

digestive/alimentary

growth/size

homeostasis/metabolism

renal/urinary system

DIO2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Regulation of thyroid hormone activity

Regulation of thyroid hormone activity	1.00	Thyroxine biosynthesis	0.50
thyroid hormone metabolism I (via deiodination)	0.67	Amine-derived hormones	0.21
thyronamine and iodothyronamine metabolism	0.67

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Metabolism

Metabolism

1.00

thyroid hormone metabolism II (via conjugation and/or degradation)

thyroid hormone metabolism II (via conjugation and/or degradation)

1.00

Selenium Metabolism and Selenoproteins

Selenium Metabolism and Selenoproteins

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for DIO2

	Selenium Metabolism and Selenoproteins
	Selenium Pathway
	thyroid hormone metabolism I (via deiodination)
	thyroid hormone metabolism II (via conjugation and/or degradation)
	thyronamine and iodothyronamine metabolism

5 Reactome Pathways for DIO2

	Thyroxine biosynthesis
	Amine-derived hormones
	Metabolism
	Metabolism of amino acids and derivatives
	Regulation of thyroid hormone activity

DIO2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for DIO2

5/10 Interacting proteins for DIO2 (Q92813³) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
USP20	Q9Y2K6³	I2D: score=2
USP33	Q8TEY7³	I2D: score=2
CUL5	Q93034³	I2D: score=1
MARCH6	O60337³	I2D: score=1
RBX1	P62877³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001514	selenocysteine incorporation	NAS	9837913
GO:0006590	thyroid hormone generation	TAS	--
GO:0009409	response to cold	--	--
GO:0032496	response to lipopolysaccharide	--	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--

DIO2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DIO2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for DIO2

6 HMDB Compounds for DIO2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Iodide	Iodide (see all 10)	20461-54-5	--
Liothyronine	3,3',5-Triiodo-L-thyronine (see all 20)	6893-02-3	--
Selenium	selenium (see all 5)	7782-49-2	--
Selenocysteine	(2R)-2-amino-3-selanylpropanoate (see all 8)	3614-08-2	--
Thyroxine	(-)-Thyroxine (see all 33)	51-48-9	--
Thyroxine sulfate	Thyroxine sulfate (see all 8)	77074-49-8	--

10/31 Novoseek chemical compound relationships for DIO2 gene (see all 31) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-iodothyronine	84.3	2	12586771 (1), 12843166 (1)
n-bromoacetyl-3,3',5-triiodo-l-thyronine	81.1	1	8770868 (1)
thyroxine	78.9	53	11716036 (3), 16140305 (2), 8770868 (2), 12419801 (1) (see all 31)
triiodothyronine	76.2	37	20458138 (2), 14523556 (2), 11716036 (2), 15891024 (1) (see all 22)
selenocysteine	74.4	11	11897672 (3), 10698189 (1), 12746313 (1), 10403186 (1) (see all 5)
3,3'-diiodothyronine	70.1	1	15192045 (1)
propylthiouracil	67.1	6	18339710 (1), 9709961 (1), 11425850 (1), 8770868 (1) (see all 6)
iodine	51.5	7	8754756 (1), 16131334 (1), 18339710 (1), 8770868 (1) (see all 5)
mg 132	48.5	9	11075806 (2), 10698189 (1), 19651899 (1), 11425850 (1)
pgd2	34.4	2	16940740 (1), 10582659 (1)

Search CenterWatch for drugs/clinical trials and news about DIO2 / IOD2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DIO2 gene (5 alternative transcripts):

NM_000793.5 NM_001007023.3 NM_001242502.1 NM_001242503.1 NM_013989.4

Unigene Cluster for DIO2:

Deiodinase, iodothyronine, type II

Hs.202354 [show with all ESTs]

Unigene Representative Sequence: NM_000793

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000438257(uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1 uc001xut.3 uc010asx.3 uc021rxa.1 uc021rxb.1)

ENST00000557010(uc010asy.3 uc010asy.3) ENST00000557010(uc010asy.3 uc010asy.3)

ENST00000556811 ENST00000555750 ENST00000555750 ENST00000555750 ENST00000557125

ENST00000555844 ENST00000554188 ENST00000553968 ENST00000553594 ENST00000556384

ENST00000422005

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Additional cDNA sequence:

AB041843.1 AB041844.1 AF007144.1 AF093774.1 AF123661.1 AK292210.1 AK311603.1 BC063118.1

BC074882.2 BC136514.1 U53506.1

8 DOTS entries:

DT.415582 DT.100797024 DT.95339627 DT.92430647 DT.95267216 DT.100758037 DT.40260155 DT.92430644

24/159 AceView cDNA sequences (see all 159):

CD014032 AJ710532 AI681552 BE439562 AB041843 AW029226 AI681219 Z44085

AL707297 BE466333 AI341352 AI865780 BQ574883 BF197951 BE466580 AI032418

CB215551 U53506 CN480723 CD014033 BC074882 BF447911 CN479762 Z40113

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DIO2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGCTAAGAG

About this image

DIO2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Adipose

Interscapular Brown Adipose Depot

Adipose

Thoracic Perivascular Adipose

Adipose

Bone

Mandibular Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/15 LifeMap Cells (see all 15)

Name

Category

PureStem™ mesenchymal progenitor SM30 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)

Cartilage, Neural Crest

PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)

Lateral Plate Mesoderm, Neural Crest

PureStem™ progenitor W8 (Embryonic Progenitor Cell)

Primitive gut tube-like cells (A scalable, suspensi...)

HyStem+BMP4-induced SM30 cells (HyStem+BMP4 inductio...)

Adipose, Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+BMP4-induced MEL2 cells (HyStem+BMP4 inductio...)

Bone

Genevestigator expression for DIO2

SOURCE GeneReport for Unigene cluster: Hs.202354

UniProtKB/Swiss-Prot: IOD2_HUMAN, Q92813

Tissue specificity: Heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain

SABiosciences Expression via Pathway-Focused PCR Array including DIO2:

Adipogenesis in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for DIO2 gene from 5/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dio2^{1 , 5}	deiodinase, iodothyronine, type II^{1, 5}	88.68(n)¹ 91.22(a)¹		12 (44.05 cM)⁵ 13371¹ NM_010050.2¹ NP_034180.1¹ 90724554⁵
chicken (Gallus gallus)	Aves	DIO2¹	deiodinase, iodothyronine, type II	78.07(n) 84.03(a)		373903 NM_204114.2 NP_989445.2
lizard (Anolis carolinensis)	Reptilia	DIO2⁶ --	--	91(a) 36(a)	possible ortholog 1 ↔ 1	1(18488640-18488861) 1(18182921-18188230)
African clawed frog (Xenopus laevis)	Amphibia	dio2-A²	type II iodothyronine deiodinase	78.95(n)		AF354707.1
zebrafish (Danio rerio)	Actinopterygii	dio2²	deiodinase, iodothyronine, type II	76.4(n)		352937 BC059608.1

ENSEMBL Gene Tree for DIO2 (if available)
TreeFam Gene Tree for DIO2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DIO2 gene

DIO3²

2 SIMAP similar genes for DIO2 using alignment to 8 protein entries: IOD2_HUMAN (see all proteins):

DIO1 DIO3

DIO2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10136454^1,2	C,F,H,	--	80663405(+)	`GTGTTC/TAAATG`	5	--	ds500¹		12		NS EA NA	1562
rs144696064^1,2		--	80663437(+)	`CAATC-/ATAA ATAAT`	5	--	ds500¹		0	--	--	--	--
rs200899107^1,2	C	--	80663477(+)	`TGTGTA/GTGTGT`	5	--	ds500¹		0	--	--	--	--
rs140365378^1,2	C,	--	80663478(+)	`GTGTA-/TGTGTGT`	5	--	ds500¹		0	--	--	--	--
rs225020^1,2	C,	--	80663479(-)	`ACACAC/TATACA`	5	--	ds500¹		2		NA	4
rs186794219^1,2		--	80663744(+)	`CTTTGC/TCCACA`	5	--	ds500¹		0	--	--	--	--
rs76977648^1,2	F,	--	80663828(+)	`CAAGTT/GCTAGG`	5	--	ds500¹		1		WA	118
rs192334437^1,2		--	80663936(+)	`GCACTC/GAGCAC`	5	--	ut3¹		0	--	--	--	--
rs225019^1,2	C,F,H,	--	80663956(-)	`GAAAGA/GGTGTT`	5	--	ut3¹		12		MN NS EA NA WA	1490
rs1056813^1,2	C	--	80664119(-)	`ACATTA/GGTTTG`	5	--	ut3¹		3		MN NA	188

HapMap Linkage Disequilibrium report for DIO2 (80663869 - 80854100 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for DIO2: --
Human Gene Mutation Database (HGMD): DIO2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

DIO2 for disorders           About GeneDecksing

OMIM gene information: 601413    OMIM disorders: --

20/37 diseases for DIO2 (see all 37):    About MalaCards

thyroid adenoma graves' disease thyroiditis adenoma

euthyroid sick syndrome mccune albright syndrome familial partial lipodystrophy thyroid hormone metabolism

type 2 diabetes mellitus insulin resistance pendred syndrome diabetes mellitus

follicular thyroid carcinoma goiter lipodystrophy thyrotoxicosis

hyperthyroidism pituitary adenoma thyroid carcinoma hypothyroidism

2 diseases from the University of Copenhagen DISEASES database for DIO2:

Hypothyroidism Hyperthyroidism

10/22 Novoseek disease relationships for DIO2 gene (see all 22) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
euthyroid sick syndromes	75.3	1	14635503 (1)
iodine deficiency	53.2	5	16131334 (1), 8770868 (1), 19352319 (1)
hypothyroidism	46.6	8	19293265 (4), 11598378 (1), 17891232 (1)
thyroid follicular carcinoma	46.6	3	12574186 (2), 17891232 (1)
graves disease	45.5	6	12699588 (4), 8770868 (1), 19684474 (1)
thyroid carcinoma	45.1	1	20200941 (1)
thyroid adenoma	41.7	1	10614643 (1)
adenoma follicular	30.3	1	8770868 (1)
hyperthyroidism	28.8	1	17389703 (1), 17588648 (1)
insulin resistance	27.4	8	15797963 (2), 17408423 (1), 16356084 (1), 17381351 (1) (see all 6)

Genetic Association Database (GAD): DIO2
Human Genome Epidemiology (HuGE) Navigator: DIO2 (33 documents)

Export disorders for DIO2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for DIO2 gene, integrated from 9 sources (see all 211):
(articles sorted by number of sources associating them with DIO2)

Utopia: connect your pdf to the dynamic
world of online information

Cloning of the mammalian type II iodothyronine deiodinase. A selenoprotein differentially expressed and regulated in human and rat brain and other tissues. (PubMed id 8755651)^{1, 2, 3} Croteau W.... St Germain D.L. (1996)
The E3 ubiquitin ligase TEB4 mediates degradation of type 2 iodothyronine deiodinase. (PubMed id 19651899)^{1, 2, 9} Zavacki A.M....Bianco A.C. (2009)
A new polymorphism in the type II deiodinase gene is associated with circulating thyroid hormone parameters. (PubMed id 15727947)^{1, 4, 9} Peeters R.P....Visser T.J. (2005)
Positive association of the DIO2 (deiodinase type 2) gene with mental retardation in the iodine-deficient areas of China. (PubMed id 15286152)^{1, 4, 9} Guo T.W....He L. (2004)
The 3'-untranslated region of human type 2 iodothyronine deiodinase mRNA contains a functional selenocysteine insertion sequence element. (PubMed id 9837913)^{1, 2, 9} Buettner C.... Larsen P.R. (1998)
The type 2 deiodinase A/G (Thr92Ala) polymorphism is associated with decreased enzyme velocity and increased insulin resistance in patients with type 2 diabetes mellitus. (PubMed id 15797963)^{1, 4, 9} Canani L.H....Maia A.L. (2005)
Association between a novel variant of the human type 2 deiodinase gene Thr92Ala and insulin resistance: evidence of interaction with the Trp64Arg variant of the beta-3-adrenergic receptor. (PubMed id 11872697)^{1, 4, 9} Mentuccia D....Celi F.S. (2002)
The Thr92Ala deiodinase type 2 (DIO2) variant is not associated with type 2 diabetes or indices of insulin resistance in the old order of Amish. (PubMed id 16356084)^{1, 4, 9} Mentuccia D....Celi F.S. (2005)
Polymorphisms in type 2 deiodinase are not associated with well-being, neurocognitive functioning, and preference for combined thyroxine/3,5,3'-triiodothyronine therapy. (PubMed id 16144953)^{1, 4} Appelhof B.C....Fliers E. (2005)
Deubiquitination of type 2 iodothyronine deiodinase by von Hippel- Lindau protein-interacting deubiquitinating enzymes regulates thyroid hormone activation. (PubMed id 12865408)^{1, 2} Curcio-Morelli C.... Bianco A.C. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1734	HGNC: 2884	AceView: DIO2	Ensembl:ENSG00000211448	euGenes: HUgn1734
ECgene: DIO2	H-InvDB: DIO2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DIO2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for DIO2 gene
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Patent Information for DIO2 gene:
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GeneCards and IP:
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DIO2 Gene

deiodinase, iodothyronine, type II

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