Gene Report

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Basic Info

Approved Symbol	DIO2
Symbol Alias	TXDI2, SelY
Approved Name	deiodinase, iodothyronine, type II
Name Alias	thyroxine deiodinase, type II, "deiodonase-2", "deiodinase-2"
Location	14q24.2-q24.3
Position	chr14:80197527-80387757, -1
External Links	HGNC: 2884 Entrez Gene: 1734 Ensembl: ENSG00000211448 UCSC: uc021rxb.1
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
He, B.,2009	SNP: rs12885300, rs225014 Haplotype: rs12885300 - rs225014()	Data generated from this study supported our hypothesis that genetic variations of the DIO2 gene were associated with BPAD	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 13)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005886	plasma membrane	cellular component	TAS	360
GO:0016021	integral component of membrane	cellular component	IEA	219
GO:0016020	membrane	cellular component	IC[9837913]	137

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[19651899]	25
GO:0006590	thyroid hormone generation	biological process	TAS[9837913]	3
GO:0055114	oxidation-reduction process	biological process	IEA	43
GO:0042403	thyroid hormone metabolic process	biological process	IDA[19651899]	1
GO:0001514	selenocysteine incorporation	biological process	NAS[9837913]	1
GO:0008430	selenium binding	molecular function	IC[9837913]	2
GO:0004800	thyroxine 5'-deiodinase activity	molecular function	IDA[19651899]; TAS[9837913]	2
GO:0034641	cellular nitrogen compound metabolic process	biological process	TAS	20
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0042446	hormone biosynthetic process	biological process	IEA	2

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DIO2	USP33	NO	in vitro;in vivo;yeast 2-hybrid	12865408
DIO2	USP20	NO	in vitro;in vivo;yeast 2-hybrid	12865408

Related other genetic factors

Gene related SNPs (count: 6)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs12885300	chr14:80211923 - 80211923(1)	5_prime_UTR_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1(1/0/0)
rs225014	chr14:80203237 - 80203237(1)	3_prime_UTR_variant; intron_variant; missense_variant; NMD_transcript_variant	1(1/0/0)

rs_ID	Location	Functional Annotation
rs12883700	chr14:80243302 - 80243302(1)	intron_variant; non_coding_transcript_variant
rs8015989	chr14:80224803 - 80224803(1)	intron_variant; non_coding_transcript_variant
rs17766126	chr14:80220016 - 80220016(1)	intron_variant; non_coding_transcript_variant
rs225015	chr14:80201236 - 80201236(1)	3_prime_UTR_variant; downstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q24.1-q32.12	chr14:67400000-94200000	1 (0/0/1)
Chr 14	chr14:0-107043718	2 (0/2/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr14:80197527..80387757 View in gBrowse