Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
389434
Gene name Gene Name - the full gene name approved by the HGNC.
Iodotyrosine deiodinase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IYD
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf71, DEHAL1, IYD-1, TDH4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TDH4
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004447 Function Iodide peroxidase activity IBA 21873635
GO:0005515 Function Protein binding IPI 25416956, 25910212
GO:0005654 Component Nucleoplasm IDA
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612025 21071 ENSG00000009765
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Congenital hypothyroidism Congenital Hypothyroidism rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670 18765512
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Unknown
Disease term Disease name Evidence References Source
Thyroid Dyshormonogenesis familial thyroid dyshormonogenesis GenCC
Panic Disorder Panic Disorder GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 39512680
Carcinoma Hepatocellular Associate 36582227
Cognition Disorders Associate 18434651
Congenital Hypothyroidism Associate 18434651, 34200080, 36633921
Hypothyroidism Associate 18434651, 36633921
Thyroid Dyshormonogenesis 4 Associate 18434651
Urinary Bladder Neoplasms Associate 30642841