Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
145282
Gene name Gene Name - the full gene name approved by the HGNC.
Mirror-image polydactyly 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MIPOL1
Synonyms (NCBI Gene) Gene synonyms aliases
CCDC193
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q13.3-q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606850 21460 ENSG00000151338
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Polydactyly Polydactyly rs1583729398, rs121917709, rs1583734240, rs121917714, rs397507422, rs398122899, rs587776959, rs386833752, rs1057518698, rs1060499558, rs755938967, rs1375768446, rs1309855392, rs1565601979, rs748321474
View all (3 more)
11954550
Unknown
Disease term Disease name Evidence References Source
Urolithiasis Urolithiasis GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 32321829
Lung Neoplasms Associate 21148747
Polydactyly Associate 28488682
Squamous Cell Carcinoma of Head and Neck Associate 35922788
Uterine Cervical Neoplasms Associate 33191407