Prickle planar cell polarity protein 2

Protein-coding gene in the species Homo sapiens
PRICKLE2
Identifiers
AliasesPRICKLE2, EPM5, prickle planar cell polarity protein 2
External IDsOMIM: 608501; MGI: 1925144; HomoloGene: 17889; GeneCards: PRICKLE2; OMA:PRICKLE2 - orthologs
Gene location (Human)
Chromosome 3 (human)
Chr.Chromosome 3 (human)[1]
Chromosome 3 (human)
Genomic location for PRICKLE2
Genomic location for PRICKLE2
Band3p14.1Start64,092,236 bp[1]
End64,445,476 bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for PRICKLE2
Genomic location for PRICKLE2
Band6|6 D1Start92,347,889 bp[2]
End92,683,136 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
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
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
More reference expression data
BioGPS
n/a
Gene ontology
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
Orthologs
SpeciesHumanMouse
Entrez

166336

243548

Ensembl

ENSG00000163637

ENSMUSG00000030020

UniProt

Q7Z3G6

Q80Y24

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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000163637 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030020 – Ensembl, 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

  • 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.


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