Human Gene PRICKLE2 (ENST00000638394.2) from GENCODE V44
Description: Homo sapiens prickle planar cell polarity protein 2 (PRICKLE2), transcript variant 1, mRNA. (from RefSeq NM_198859) RefSeq Summary (NM_198859): This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]. Gencode Transcript: ENST00000638394.2 Gencode Gene: ENSG00000163637.13 Transcript (Including UTRs) Position: hg38 chr3:64,092,236-64,225,466 Size: 133,231 Total Exon Count: 8 Strand: - Coding Region Position: hg38 chr3:64,099,051-64,198,927 Size: 99,877 Coding Exon Count: 7
ID:PRIC2_HUMAN DESCRIPTION: RecName: Full=Prickle-like protein 2; Flags: Precursor; SUBCELLULAR LOCATION: Nucleus membrane (Potential). TISSUE SPECIFICITY: Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors. DISEASE: Defects in PRICKLE2 are the cause of progressive myoclonic epilepsy type 5 (EPM5) [MIM:613832]. EPM5 is a neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms including cognitive decline and persistent movement abnormalities. SIMILARITY: Belongs to the prickle / espinas / testin family. SIMILARITY: Contains 3 LIM zinc-binding domains. SIMILARITY: Contains 1 PET domain.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q7Z3G6
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.