DIO3 (iodothyronine deiodinase 3)

2003-05-01 Affiliation

Identity

HGNC

DIO3

LOCATION

14q32.31

LOCUSID

1735

ALIAS

5DIII,D3,DIOIII,TXDI3

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 1735
MIM: 601038
HGNC: 2885
Ensembl: ENSG00000197406

Variants:

dbSNP: 1735
ClinVar: 1735
TCGA: ENSG00000197406
COSMIC: DIO3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197406	ENST00000510508	P55073

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Thyroid hormone signaling pathway	KEGG	hsa04919
Metabolism	REACTOME	R-HSA-1430728
Metabolism of amino acids and derivatives	REACTOME	R-HSA-71291
Amine-derived hormones	REACTOME	R-HSA-209776
Thyroxine biosynthesis	REACTOME	R-HSA-209968
Regulation of thyroid hormone activity	REACTOME	R-HSA-350864

References

Pubmed ID	Year	Title	Citations
22825660	2013	The microRNAs within the DLK1-DIO3 genomic region: involvement in disease pathogenesis.	87
19190113	2009	Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients.	75
21737452	2011	DLK1-DIO3 genomic imprinted microRNA cluster at 14q32.2 defines a stemlike subtype of hepatocellular carcinoma associated with poor survival.	57
12847093	2003	The iodothyronine selenodeiodinases are thioredoxin-fold family proteins containing a glycoside hydrolase clan GH-A-like structure.	50
24816254	2014	The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome.	42
15240580	2004	Iodothyronine levels in the human developing brain: major regulatory roles of iodothyronine deiodinases in different areas.	41
12419801	2003	Human type 3 iodothyronine selenodeiodinase is located in the plasma membrane and undergoes rapid internalization to endosomes.	36
20566590	2010	Association of the type 2 deiodinase Thr92Ala polymorphism with type 2 diabetes: case-control study and meta-analysis.	35
12586771	2003	In vivo dimerization of types 1, 2, and 3 iodothyronine selenodeiodinases.	33
16131329	2005	Structure and function of the type 3 deiodinase gene.	31

Citation

Dessen P

DIO3 (iodothyronine deiodinase 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40309/dio3