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

    Gene ID: 166336, updated on 10-Dec-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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    See PRICKLE2 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (64092236..64268173, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (64135847..64311751, complement)
    RS_2024_09 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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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 (25) 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)

    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_2024_08

    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.

    Chemical Information
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