Protein-coding gene in the species Homo sapiens
PRICKLE2 |
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Identifiers |
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Aliases | PRICKLE2, EPM5, prickle planar cell polarity protein 2 |
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External IDs | OMIM: 608501; MGI: 1925144; HomoloGene: 17889; GeneCards: PRICKLE2; OMA:PRICKLE2 - orthologs |
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Gene location (Human) |
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![Chromosome 3 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/3/39/Ideogram_human_chromosome_3.svg/300px-Ideogram_human_chromosome_3.svg.png) | Chr. | Chromosome 3 (human)[1] |
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| Band | 3p14.1 | Start | 64,092,236 bp[1] |
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End | 64,445,476 bp[1] |
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Gene location (Mouse) |
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![Chromosome 6 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/c/c0/Ideogram_house_mouse_chromosome_6.svg/260px-Ideogram_house_mouse_chromosome_6.svg.png) | Chr. | Chromosome 6 (mouse)[2] |
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| Band | 6|6 D1 | Start | 92,347,889 bp[2] |
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End | 92,683,136 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - tail of epididymis
- epithelium of colon
- middle temporal gyrus
- entorhinal cortex
- Brodmann area 46
- postcentral gyrus
- superior frontal gyrus
- Brodmann area 23
- myometrium
- endometrium
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| Top expressed in | - piriform cortex
- subdivision of hippocampus
- Region I of hippocampus proper
- amygdala
- primary motor cortex
- anterior amygdaloid area
- subiculum
- hippocampus proper
- olfactory tubercle
- prefrontal cortex
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - zinc ion binding
- metal ion binding
| Cellular component | - cytoplasm
- nuclear membrane
- membrane
- nucleus
| Biological process | - Wnt signaling pathway, planar cell polarity pathway
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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NM_001081146 NM_001134459 NM_001134460 NM_001134461 |
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RefSeq (protein) | | |
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NP_001074615 NP_001127931 NP_001127932 NP_001127933 NP_001391015 |
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Location (UCSC) | Chr 3: 64.09 – 64.45 Mb | Chr 6: 92.35 – 92.68 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene. [5]
Function
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].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000163637 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030020 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Prickle planar cell polarity protein 2". Retrieved 2018-02-20.
Further reading
- Katoh M, Katoh M (February 2003). "Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle". Int. J. Mol. Med. 11 (2): 249–56. doi:10.3892/ijmm.11.2.249. PMID 12525887.
- Daulat AM, Luu O, Sing A, Zhang L, Wrana JL, McNeill H, Winklbauer R, Angers S (January 2012). "Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation". Mol. Cell. Biol. 32 (1): 173–85. doi:10.1128/MCB.06320-11. PMC 3255712. PMID 22037766.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.