Gene Gene information from NCBI Gene database.
Entrez ID 389434
Gene name Iodotyrosine deiodinase
Gene symbol IYD
Synonyms (NCBI Gene)
C6orf71DEHAL1IYD-1TDH4
Chromosome 6
Chromosome location 6q25.1
Summary This gene encodes an enzyme that catalyzes the oxidative NADPH-dependent deiodination of mono- and diiodotyrosine, which are the halogenated byproducts of thyroid hormone production. The N-terminus of the protein functions as a membrane anchor. Mutations
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121918138 C>T Pathogenic Missense variant, non coding transcript variant, coding sequence variant, synonymous variant
rs121918139 T>C Pathogenic Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs121918140 G>A Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs863223276 CAT>- Pathogenic Inframe indel, coding sequence variant, intron variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
469
miRTarBase ID miRNA Experiments Reference
MIRT017241 hsa-miR-335-5p Microarray 18185580
MIRT693866 hsa-miR-4781-3p HITS-CLIP 23313552
MIRT693865 hsa-miR-4716-5p HITS-CLIP 23313552
MIRT693864 hsa-miR-3663-5p HITS-CLIP 23313552
MIRT693863 hsa-miR-4680-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 15289438
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612025 21071 ENSG00000009765
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PHW0
Protein name Iodotyrosine deiodinase 1 (IYD-1) (EC 1.21.1.1) (Iodotyrosine dehalogenase 1)
Protein function Catalyzes the dehalogenation of halotyrosines such as 3-bromo-L-tyrosine, 3-chloro-L-tyrosine, 3-iodo-L-tyrosine and 3,5-diiodo-L-tyrosine (PubMed:15289438, PubMed:18434651, PubMed:25395621, PubMed:28157283). During thyroid hormone biosynthesis,
PDB 4TTB , 4TTC , 5YAK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00881 Nitroreductase 97 267 Nitroreductase family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at a high level in thyroid gland (at protein level). Expressed at a high level in thyroid gland and at lower level in kidney and trachea. {ECO:0000269|PubMed:15289438}.
Sequence
MYFLTPILVAILCILVVWIFKNADRSMEKKKGEPRTRAEARPWVDEDLKDSSDLHQAEED
ADEWQESEENVEHIPFSHNHYPEKEMVKRSQEFYELLNKRRSVRFISNEQVPMEVIDNVI
RTAGTAPSGAHTEPWTFVVVKDPDVKHKIRKIIEEEEEINYMKRMGHRWVTDLKKLRTNW
IKEYLDTAPILILIFKQVHGFAANGKKKVHYYNEISVSIACGILLAALQNAGLVTVTTTP
LNCGPRLRVLLGRPAHEKLLMLLPVGY
PSKEATVPDLKRKPLDQIMVTV
Sequence length 289
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thyroid hormone synthesis   Thyroxine biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Iodotyrosine deiodination defect Likely pathogenic; Pathogenic rs121918138, rs121918139, rs121918140, rs1052959039 RCV000000773
RCV000000775
RCV000000776
RCV003324290
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IYD-related disorder Likely pathogenic rs121918138 RCV003430626
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital hypothyroidism Uncertain significance; Likely benign; Benign ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 17322488
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 17322488
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 39512680 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 36582227 Associate
★☆☆☆☆
Found in Text Mining only
Cognition Disorders Cognition disorder Pubtator 18434651 Associate
★☆☆☆☆
Found in Text Mining only
Congenital exomphalos Congenital Exomphalos HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital Hypothyroidism Congenital Hypothyroidism BEFREE 14671405, 18434651, 18765512, 28215547
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Congenital Hypothyroidism Congenital hypothyroidism Pubtator 18434651, 34200080, 36633921 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Congenital Hypothyroidism Congenital Hypothyroidism LHGDN 18765512
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Congenital Hypothyroidism Congenital Hypothyroidism GENOMICS_ENGLAND_DG 18765512
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)