Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1734
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Iodothyronine deiodinase 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
DIO2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
5DII, D2, DIOII, SELENOY, SelY, TXDI2 |
Chromosome
Chromosome number
|
14 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q31.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene belongs to the iodothyronine deiodinase family. It catalyzes the conversion of prohormone thyroxine (3,5,3`,5`-tetraiodothyronine, T4) to the bioactive thyroid hormone (3,5,3`-triiodothyronine, T3) by outer ring 5`-deiodin |
UniProt ID |
Q92813
|
Protein name |
Type II iodothyronine deiodinase (EC 1.21.99.4) (5DII) (DIOII) (Type 2 DI) (Type-II 5'-deiodinase) |
Protein function |
Plays a crucial role in the metabolism of thyroid hormones (TH) and has specific roles in TH activation and inactivation by deiodination (PubMed:12586771, PubMed:11108274, PubMed:10403186, PubMed:18821722). Catalyzes the deiodination of L-thyrox |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00837
|
T4_deiodinase |
4 → 262 |
Iodothyronine deiodinase |
Family |
|
Tissue specificity |
TISSUE SPECIFICITY: Isoform 1 is expressed in the lung, trachea, kidney, heart, skeletal muscle, placenta, fetal brain and several regions of the adult brain (PubMed:11165050, PubMed:8755651). Isoform 2 is expressed in the brain, heart, kidney and trachea |
Sequence |
|
Sequence length |
273 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Autism spectrum disorder |
Autism Spectrum Disorders |
rs724159978, rs75184679, rs119103221, rs9332964, rs121912562, rs1594344233, rs727504317, rs111033204, rs1801086, rs587784464, rs724159948, rs764659822, rs794727977, rs796052733, rs796052728, rs762292772, rs864321694, rs869312878, rs758432471, rs750896617, rs886039692, rs886039770, rs201037487, rs200483989, rs1057518198, rs1057517708, rs780267761, rs1555910143, rs1057519632, rs775225727, rs751037529, rs1064794848, rs1064795655, rs1131691548, rs1135401811, rs1553248081, rs1454466097, rs1554480537, rs1553578503, rs1553518509, rs774152851, rs1554481395, rs1554464807, rs1554401434, rs1561824498, rs1396313317, rs1564801388, rs1564801473, rs1564950387, rs1565527302, rs1569513495, rs1569305431, rs143944436, rs1563183492, rs1561846159, rs1565819425, rs1562957809, rs1585645641, rs1585016242, rs1595127294, rs1585667374, rs1585653028, rs1585653240, rs1592919048, rs1585645384, rs1789927813 View all (51 more) |
24781735 |
Mesothelioma |
Mesothelioma |
rs121907908, rs387906350, rs387906351 |
11425850 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Endometriosis |
Endometriosis |
|
21063030 |
ClinVar |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Breast Cancer |
Breast Cancer |
Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients |
|
GWAS, CBGDA |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abortion Spontaneous |
Inhibit
|
37968664 |
Acute Lung Injury |
Associate
|
35137147 |
AIDS Associated Nephropathy |
Associate
|
22259052 |
Autism Spectrum Disorder |
Associate
|
33449341 |
Bone Diseases |
Associate
|
35412619 |
Breast Neoplasms |
Associate
|
36077333 |
Carcinoma Hepatocellular |
Associate
|
26199857, 37059745 |
Cartilage Diseases |
Associate
|
35412619 |
Chemical and Drug Induced Liver Injury |
Associate
|
37059745 |
Cognition Disorders |
Associate
|
33449341 |
Congenital Hypothyroidism |
Associate
|
15286152 |
COVID 19 |
Associate
|
35137147 |
Death |
Associate
|
35137147 |
Diabetes Gestational |
Associate
|
33232364 |
Diabetes Mellitus Type 2 |
Associate
|
20930717, 22142372, 25105294, 35739305 |
Disease |
Associate
|
35205233 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
29321381 |
Embolism Fat |
Associate
|
22259052 |
Endometrial Neoplasms |
Associate
|
35205233 |
Fibrosis |
Associate
|
37059745 |
Gaucher Disease |
Associate
|
33049131 |
Glucose Intolerance |
Associate
|
22142372 |
Goiter |
Associate
|
17940114 |
Graves Disease |
Associate
|
23193417, 33049131 |
Hepatitis Chronic |
Associate
|
37059745 |
HIV Associated Lipodystrophy Syndrome |
Associate
|
22259052 |
HIV Infections |
Associate
|
26756119 |
Hypertension |
Associate
|
35739305, 36646987 |
Hypothyroidism |
Associate
|
29321381, 29973617, 36646987 |
Idiopathic Pulmonary Fibrosis |
Associate
|
36681777 |
Inflammation |
Stimulate
|
30978267 |
Insulin Resistance |
Associate
|
18198294, 20930717, 25105294, 35739305 |
Intellectual Disability |
Associate
|
15286152 |
Intestinal Pseudo Obstruction |
Associate
|
22259052 |
Kashin Beck Disease |
Associate
|
25072641, 33455417 |
Lipodystrophy Familial Partial |
Associate
|
20373986 |
Liver Cirrhosis |
Associate
|
37059745 |
Liver Diseases |
Associate
|
37059745 |
Metabolic Syndrome |
Associate
|
18198294, 20930717 |
Neoplasms |
Associate
|
16012517 |
Neoplasms Adipose Tissue |
Associate
|
22259052 |
Neurodegenerative Diseases |
Associate
|
33449341 |
Neurologic Manifestations |
Associate
|
26004626 |
Obesity |
Associate
|
22142372, 25622596, 30116736 |
Obesity Morbid |
Associate
|
35739305 |
Osteoarthritis |
Associate
|
21400473, 24695009, 24825461, 33455417 |
Osteoarthritis Hip |
Associate
|
21400473 |
Pendred syndrome |
Associate
|
17940114 |
Pre Eclampsia |
Associate
|
26388242 |
Pulmonary Disease Chronic Obstructive |
Stimulate
|
30978267 |
Pulmonary Fibrosis |
Associate
|
35137147 |
Thyroid Adenoma Hyperfunctioning |
Associate
|
23193417 |
Thyroid cancer medullary |
Associate
|
18514391 |
Thyroid Cancer Papillary |
Associate
|
39408960 |
Thyroid Hormone Metabolism Abnormal |
Associate
|
29973617 |
Thyroid Neoplasms |
Associate
|
24910925 |
|