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mutLBSgeneDB |
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| Gene summary for IYD |
 Gene summary |
| Basic gene Info. | Gene symbol | IYD |
| Gene name | iodotyrosine deiodinase | |
| Synonyms | C6orf71|DEHAL1|TDH4|dJ422F24.1 | |
| Cytomap | UCSC genome browser: 6q25.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164694.1, NM_001164695.1,NM_203395.2, | |
| Description | IYD-1iodotyrosine dehalogenase 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612025 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000009765 | ||
| HPRD : 16668 | ||
| Vega : OTTHUMG00000016347 | ||
| Protein | UniProt: Q6PHW0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_IYD | |
| BioGPS: 389434 | ||
| Pathway | NCI Pathway Interaction Database: IYD | |
| KEGG: IYD | ||
| REACTOME: IYD | ||
| Pathway Commons: IYD | ||
| Context | iHOP: IYD | |
| ligand binding site mutation search in PubMed: IYD | ||
| UCL Cancer Institute: IYD | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for IYD |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R101 | R101W | BRCA | 1 | L173 | K174N | COAD | 1 | Y161 | M162I | COAD | 1 | K182 | E183Q | KIRC | 1 | L277 | D276N | SKCM | 1 | R101 | R101W | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for IYD |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | R101 | R101W | -1.0845201 | L173 | K174N | -1.0500199 | L277 | D276N | -1.0235463 | Y161 | M162I | -0.77889594 | K182 | E183Q | -0.71217128 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for IYD from PDB |
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| Differential gene expression and gene-gene network for IYD |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for IYD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0342195 | Thyroid Dyshormonogenesis 4 | 4 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 15776 | R101W | Pathogenic | Germline | MedGen:C0342195 OMIM:274800 Orphanet:ORPHA95716 SNOMED CT:17885001 |
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| Pharmacological information for IYD |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB03374 | 3,5-Diiodotyrosine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of IYD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FMN | FLAVIN MONONUCLEOTIDE | 4ttb | A | R101 | FMN | FLAVIN MONONUCLEOTIDE | 4ttb | B | R101 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | E | R101 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | A | R101 L277 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | B | R101 L277 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | C | R101 L277 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | D | R101 L277 | FMN | FLAVIN MONONUCLEOTIDE | 4ttc | F | R101 L277 | IYR | 3-IODO-L-TYROSINE | 4ttc | A | Y161 L173 K182 | IYR | 3-IODO-L-TYROSINE | 4ttc | B | Y161 L173 K182 | IYR | 3-IODO-L-TYROSINE | 4ttc | C | Y161 L173 K182 | IYR | 3-IODO-L-TYROSINE | 4ttc | D | Y161 L173 K182 | IYR | 3-IODO-L-TYROSINE | 4ttc | E | Y161 L173 K182 | IYR | 3-IODO-L-TYROSINE | 4ttc | F | Y161 L173 K182 |
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| Conservation information for LBS of IYD |
| Multiple alignments for Q6PHW0 in multiple species |
| LBS | AA sequence | # species | Species | A130 | TAPSGAHTEPW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E157 | IIEEEEEINYM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G129 | GTAPSGAHTEP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H131 | APSGAHTEPWT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I215 | HYYNEISVSIA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I219 | EISVSIACGIL | 2 | Homo sapiens, Rattus norvegicus | I219 | EISVSIACGLL | 1 | Mus musculus | K182 | RTNWIKEYLDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L173 | RWVTDLKKLRT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L176 | TDLKKLRTNWI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L277 | ATVPDLKRKPL | 1 | Homo sapiens | L277 | ATVPDLKRKAL | 1 | Mus musculus | L277 | ATVPDLKRKTL | 1 | Rattus norvegicus | M165 | NYMKRMGKRWV | 2 | Mus musculus, Rattus norvegicus | M165 | NYMKRMGHRWV | 1 | Homo sapiens | N179 | KKLRTNWIKEY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P127 | AAGTAPSGAHT | 2 | Mus musculus, Rattus norvegicus | P127 | TAGTAPSGAHT | 1 | Homo sapiens | R100 | ELLNKRRSVRF | 2 | Homo sapiens, Mus musculus | R100 | ELLSKRRSIRF | 1 | Rattus norvegicus | R101 | LLNKRRSVRFI | 2 | Homo sapiens, Mus musculus | R101 | LLSKRRSIRFI | 1 | Rattus norvegicus | R104 | KRRSVRFISNE | 1 | Homo sapiens | R104 | KRRSVRFISSE | 1 | Mus musculus | R104 | KRRSIRFISSE | 1 | Rattus norvegicus | R279 | VPDLKRKPLDQ | 1 | Homo sapiens | R279 | VPDLKRKALDQ | 1 | Mus musculus | R279 | VPDLKRKTLDQ | 1 | Rattus norvegicus | S102 | LNKRRSVRFIS | 2 | Homo sapiens, Mus musculus | S102 | LSKRRSIRFIS | 1 | Rattus norvegicus | S128 | AGTAPSGAHTE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S216 | YYNEISVSIAC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T178 | LKKLRTNWIKE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T237 | GLVTVTTTPLN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T238 | LVTVTTTPLNC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T239 | VTVTTTPLNCG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V236 | AGLVTVTTTPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W169 | RMGKRWVTDLK | 2 | Mus musculus, Rattus norvegicus | W169 | RMGHRWVTDLK | 1 | Homo sapiens | Y161 | EEEINYMKRMG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y211 | KKKVHYYNEIS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y212 | KKVHYYNEISV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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