Gene Gene information from NCBI Gene database.
Entrez ID 145282
Gene name Mirror-image polydactyly 1
Gene symbol MIPOL1
Synonyms (NCBI Gene)
CCDC193
Chromosome 14
Chromosome location 14q13.3-q21.1
Summary This gene encodes a coiled-coil domain-containing protein. The encoded protein may function as a tumor suppressor. A translocation that results in truncation of the protein encoded by this locus has been associated with mirror-image polydactyly, also know
miRNA miRNA information provided by mirtarbase database.
212
miRTarBase ID miRNA Experiments Reference
MIRT024688 hsa-miR-215-5p Microarray 19074876
MIRT026684 hsa-miR-192-5p Microarray 19074876
MIRT039001 hsa-let-7a-3p CLASH 23622248
MIRT723433 hsa-miR-5571-5p HITS-CLIP 19536157
MIRT723432 hsa-miR-593-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 26871637, 29892012, 31515488, 32296183
GO:0005634 Component Nucleus IDA 19667180
GO:0042802 Function Identical protein binding IPI 25416956, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606850 21460 ENSG00000151338
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TD10
Protein name Mirror-image polydactyly gene 1 protein
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed very weakly in heart, liver, skeletal muscle, kidney, pancreas and fetal kidney. Not detected in brain, placenta and lung. {ECO:0000269|PubMed:11954550}.
Sequence
MENWSKDITHSYLEQETTGINKSTQPDEQLTMNSEKSMHRKSTELVNEITCENTEWPGQR
STNFQIISSYPDDESVYCTTEKYNVMEHRHNDMHYECMTPCQVTSDSDKEKTIAFLLKEL
DILRTSNKKLQQKLAKEDKEQRKLKFKLELQEKETEAKIAEKTAALVEEVYFAQKERDEA
VMSRLQLAIEERDEAIARAKHMEMSLKVLENINPEENDMTLQELLNRINNADTGIAIQKN
GAIIVDRIYKTKECKMRITAEEMSALIEERDAALSKCKRLEQELHHVKEQNQTSANNMRH
LTAENNQERALKAKLLSMQQARETAVQQYKKLEEEIQTLRVYYSLHKSLSQEENLKDQFN
YTLSTYEEALKNRENIVSITQQQNEELATQLQQALTERANMELQLQHAREASQVANEKVQ
KLERLVDVLRKKVGTGTMRTVI
Sequence length 442
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
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
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIPOL1-related disorder Uncertain significance; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 32321829
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 21148747
★☆☆☆☆
Found in Text Mining only
Polydactyly Associate 28488682
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Squamous Cell Carcinoma of Head and Neck Associate 35922788
★☆☆☆☆
Found in Text Mining only
Uterine Cervical Neoplasms Associate 33191407
★☆☆☆☆
Found in Text Mining only