IYD (iodotyrosine deiodinase)

2007-05-01  

Identity

HGNC
IYD
LOCATION
6q25.1
LOCUSID
389434
ALIAS
C6orf71,DEHAL1,IYD-1,TDH4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 389434
MIM: 612025
HGNC: 21071
Ensembl: ENSG00000009765

Variants:

dbSNP: 389434
ClinVar: 389434
TCGA: ENSG00000009765
COSMIC: IYD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000009765ENST00000229447Q6PHW0
ENSG00000009765ENST00000344419Q6PHW0
ENSG00000009765ENST00000367335Q6PHW0
ENSG00000009765ENST00000392255C9JXJ9
ENSG00000009765ENST00000392256Q6PHW0
ENSG00000009765ENST00000422583H7C0X6
ENSG00000009765ENST00000425615F5H543
ENSG00000009765ENST00000500320F6VN83

Expression (GTEx)

0
50
100
150
200
250
300
350
400
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

PathwaySourceExternal ID
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Amine-derived hormonesREACTOMER-HSA-209776
Thyroxine biosynthesisREACTOMER-HSA-209968

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
152894382004Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site.0
169108712006Cloning and characterization of a novel isoform of iodotyrosine dehalogenase 1 (DEHAL1) DEHAL1C from human thyroid: comparisons with DEHAL1 and DEHAL1B.0
173224882007Characterisation of DEHAL1 expression in thyroid pathologies.0
184346512008Mutations in the iodotyrosine deiodinase gene and hypothyroidism.0
187655122008Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism.0
202987472010Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations.0
218706042011[Biochemical characteristics of iodperoxidase activity of human saliva].0
225359722012Iodotyrosine deiodinase defect identified via genome-wide approach.0
253956212015A switch between one- and two-electron chemistry of the human flavoprotein iodotyrosine deiodinase is controlled by substrate.0
261514302015Rapid kinetics of dehalogenation promoted by iodotyrosine deiodinase from human thyroid.0

Citation

Dessen P

IYD (iodotyrosine deiodinase)

Atlas Genet Cytogenet Oncol Haematol. 2007-05-01

Online version: http://atlasgeneticsoncology.org/gene/47543/iyd