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DIO2 deiodinase, iodothyronine, type II [ Homo sapiens (human) ]

Gene ID: 1734, updated on 17-Jan-2015
Official Symbol
DIO2provided by HGNC
Official Full Name
deiodinase, iodothyronine, type IIprovided by HGNC
Primary source
HGNC:HGNC:2884
See related
Ensembl:ENSG00000211448; HPRD:09027; MIM:601413; Vega:OTTHUMG00000171443
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
D2; 5DII; SelY; DIOII; TXDI2
Summary
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]
Orthologs
See DIO2 in MapViewer
Location:
14q24.2-q24.3
Exon count:
6
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (80197525..80231054, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (80663868..80697397, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene transfer RNA suppressor (CTA) 3-1 Neighboring gene ribosomal protein S26 pseudogene 48 Neighboring gene neurexin 3 Neighboring gene uncharacterized LOC102724213 Neighboring gene DIO2 antisense RNA 1 Neighboring gene centrosomal protein 128kDa Neighboring gene high mobility group nucleosomal binding domain 2 pseudogene 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
selenium binding IC
Inferred by Curator
more info
PubMed 
thyroxine 5'-deiodinase activity IDA
Inferred from Direct Assay
more info
PubMed 
thyroxine 5'-deiodinase activity TAS
Traceable Author Statement
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular nitrogen compound metabolic process TAS
Traceable Author Statement
more info
 
hormone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
selenocysteine incorporation NAS
Non-traceable Author Statement
more info
PubMed 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
thyroid hormone generation TAS
Traceable Author Statement
more info
PubMed 
thyroid hormone metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IC
Inferred by Curator
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
type II iodothyronine deiodinase
Names
type II iodothyronine deiodinase
type 2 DI
deiodinase-2
deiodonase-2
type-II 5'deiodinase
type-II 5'-deiodinase
thyroxine deiodinase, type II
type 2 iodothyronine deiodinase
NP_000784.2
NP_001007024.1
NP_001229431.1
NP_001229432.1
NP_054644.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_000793.5NP_000784.2  type II iodothyronine deiodinase isoform a

    See proteins identical to NP_000784.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AC007372, AI248279, AK292210, BC136514
    Consensus CDS
    CCDS45146.1
    UniProtKB/TrEMBL
    A8K845
    UniProtKB/Swiss-Prot
    Q92813
    Related
    ENSP00000451419, OTTHUMP00000246034, ENST00000557010, OTTHUMT00000413428
    Conserved Domains (1) summary
    pfam00837
    Location:4262
    T4_deiodinase; Iodothyronine deiodinase
  2. NM_001007023.3NP_001007024.1  type II iodothyronine deiodinase isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and includes an alternate in-frame exon in the coding region, compared to variant 1. The resulting protein (isoform b) is longer than isoform a.
    Source sequence(s)
    AB041843, AC007372, AI248279, BC136514, CD691767
    Consensus CDS
    CCDS55934.1
    UniProtKB/Swiss-Prot
    Q92813
    Conserved Domains (1) summary
    cl00388
    Location:4298
    Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold
  3. NM_001242502.1NP_001229431.1  type II iodothyronine deiodinase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and includes two alternate exons in the coding region with the latter resulting in a frameshift, compared to variant 1. It encodes isoform c, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AB041843, AB041844, AC007372, AI248279, BC136514, CD691767
    UniProtKB/Swiss-Prot
    Q92813
    UniProtKB/TrEMBL
    Q9HCP7
    Related
    ENSP00000411438, ENST00000422005
    Conserved Domains (1) summary
    pfam00837
    Location:489
    T4_deiodinase; Iodothyronine deiodinase
  4. NM_001242503.1NP_001229432.1  type II iodothyronine deiodinase isoform d

    See proteins identical to NP_001229432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and includes an alternate exon in the coding region, which results in a frameshift, compared to variant 1. It encodes isoform d, which has a shorter and distinct C-terminus, compared to isoform a.
    Source sequence(s)
    AB041843, AC007372, AI248279, AK311603, BC136514, CD691767
    UniProtKB/Swiss-Prot
    Q92813
    Conserved Domains (1) summary
    pfam00837
    Location:475
    T4_deiodinase; Iodothyronine deiodinase
  5. NM_013989.4NP_054644.1  type II iodothyronine deiodinase isoform a

    See proteins identical to NP_054644.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AC007372, AF093774, AI248279, BC136514
    Consensus CDS
    CCDS45146.1
    UniProtKB/Swiss-Prot
    Q92813
    Related
    ENSP00000405854, OTTHUMP00000246219, ENST00000438257, OTTHUMT00000413750
    Conserved Domains (1) summary
    pfam00837
    Location:4262
    T4_deiodinase; Iodothyronine deiodinase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    80197525..80231054
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    80604355..80637840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    60829594..60863130
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)