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Prickle planar cell polarity protein 2

From Wikipedia, the free encyclopedia
PRICKLE2
Identifiers
AliasesPRICKLE2, EPM5, prickle planar cell polarity protein 2
External IDsOMIM: 608501; MGI: 1925144; HomoloGene: 17889; GeneCards: PRICKLE2; OMA:PRICKLE2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198859
NM_001370528

NM_001081146
NM_001134459
NM_001134460
NM_001134461

RefSeq (protein)

NP_942559
NP_001357457

NP_001074615
NP_001127931
NP_001127932
NP_001127933
NP_001391015

Location (UCSC)Chr 3: 64.09 – 64.45 MbChr 6: 92.35 – 92.68 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Prickle planar cell polarity protein 2 is a protein that in humans is encoded by the PRICKLE2 gene. [5]

Function

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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

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163637Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030020Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Prickle planar cell polarity protein 2". Retrieved 2018-02-20.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.