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PRICKLE2 prickle planar cell polarity protein 2 [ Homo sapiens (human) ]

Gene ID: 166336, updated on 7-Apr-2024

Summary

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Official Symbol
PRICKLE2provided by HGNC
Official Full Name
prickle planar cell polarity protein 2provided by HGNC
Primary source
HGNC:HGNC:20340
See related
Ensembl:ENSG00000163637 MIM:608501; AllianceGenome:HGNC:20340
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EPM5
Summary
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]
Expression
Broad expression in endometrium (RPKM 7.1), brain (RPKM 5.6) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
3p14.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (64092236..64268173, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (64135847..64311751, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (64077912..64253849, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene PRICKLE2 antisense RNA 1 Neighboring gene small nucleolar RNA U3 Neighboring gene long intergenic non-protein coding RNA 994 Neighboring gene PRICKLE2 antisense RNA 2 Neighboring gene Sharpr-MPRA regulatory region 15033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64142501-64143002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64143003-64143503 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:64149309-64149810 Neighboring gene PRICKLE2 antisense RNA 3 Neighboring gene peroxiredoxin 3 pseudogene 4 Neighboring gene Sharpr-MPRA regulatory region 502 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64224596-64225354 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64330481-64331062 Neighboring gene PRICKLE2 divergent transcript Neighboring gene uncharacterized LOC105377123 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64474389-64475332 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:64475333-64476276 Neighboring gene MPRA-validated peak4681 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:64493024-64494223 Neighboring gene RNA, U6 small nuclear 739, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders. Bayat A, et al. Eur J Hum Genet, 2021 Aug. PMID 34092786, Free PMC Article
  2. Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction. Sowers LP, et al. Mol Psychiatry, 2013 Oct. PMID 23711981, Free PMC Article
  3. Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle. Katoh M, et al. Int J Mol Med, 2003 Feb. PMID 12525887
  4. Towards complete sets of farnesylated and geranylgeranylated proteins. Maurer-Stroh S, et al. PLoS Comput Biol, 2007 Apr 6. PMID 17411337, Free PMC Article
  5. Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation. Daulat AM, et al. Mol Cell Biol, 2012 Jan. PMID 22037766, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
    Title: PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
  2. 2 autism-spectrum-disorder patients had distinct, paternally inherited, heterozygous, non-synonymous PRICKLE2 variants (p.E8Q and p.V153I) shared by their affected siblings. These variants had deficits in morphological and electrophysiological assays.
    Title: Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.
  3. MINK1 interacts with and phosphorylates PRICKLE1 and PRICKLE2.
    Title: Mink1 regulates β-catenin-independent Wnt signaling via Prickle phosphorylation.
  4. PRICKLE1 and PRICKLE2 mRNAs were expressed together in brain, eye and testis.
    Title: Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetics of coronary artery calcification among African Americans, a meta-analysis.
EBI GWAS Catalog
Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686D143, DKFZp686M031, DKFZp686H1748

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables zinc ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in Wnt signaling pathway, planar cell polarity pathway NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in nuclear membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
prickle-like protein 2
Names
prickle homolog 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_031930.2 RefSeqGene

    Range
    47707..180937
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001370528.1 → NP_001357457.1  prickle-like protein 2

    Status: REVIEWED

    Source sequence(s)
    AC092040, AC103557
    Consensus CDS
    CCDS2902.1
    UniProtKB/Swiss-Prot
    Q0VF44, Q7Z3G6
    UniProtKB/TrEMBL
    A0A1X7SBR1
    Related
    ENSP00000455004.2, ENST00000564377.6
    Conserved Domains (4) summary
    cd09415
    Location:130 → 188
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:193 → 248
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:253 → 311
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:26 → 122
    PET_Prickle; The PET domain of Prickle

  2. NM_198859.4 → NP_942559.1  prickle-like protein 2

    See identical proteins and their annotated locations for NP_942559.1

    Status: REVIEWED

    Source sequence(s)
    AC092040, AC136275, AL833539, BC119002
    Consensus CDS
    CCDS2902.1
    UniProtKB/Swiss-Prot
    Q0VF44, Q7Z3G6
    UniProtKB/TrEMBL
    A0A1X7SBR1
    Related
    ENSP00000492363.1, ENST00000638394.2
    Conserved Domains (4) summary
    cd09415
    Location:130 → 188
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:193 → 248
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:253 → 311
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:26 → 122
    PET_Prickle; The PET domain of Prickle

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    64092236..64268173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    64135847..64311751 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7Z3G6.2 GenPept UniProtKB/Swiss-Prot:Q7Z3G6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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