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

Gene ID: 166336, updated on 12-Oct-2019

Summary

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
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

Genomic context

See PRICKLE2 in Genome Data Viewer
Location:
3p14.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (64092236..64445476, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (64079526..64253859, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986093 Neighboring gene PRICKLE2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 994 Neighboring gene PRICKLE2 antisense RNA 2 Neighboring gene PRICKLE2 antisense RNA 3 Neighboring gene peroxiredoxin 3 pseudogene 4 Neighboring gene PRICKLE2 divergent transcript Neighboring gene uncharacterized LOC105377123 Neighboring gene RNA, U6 small nuclear 739, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp686D143, DKFZp686M031, DKFZp686H1748

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
prickle-like protein 2
Names
prickle homolog 2

NCBI Reference Sequences (RefSeq)

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_031930.1 RefSeqGene

    Range
    4990..138220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC092040, AC103557
    Related
    ENSP00000455004.2, ENST00000564377.6
  2. NM_198859.4NP_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
    Q7Z3G6
    UniProtKB/TrEMBL
    A0A024R368
    Related
    ENSP00000492363.1, ENST00000638394.2
    Conserved Domains (4) summary
    cd09415
    Location:130188
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:193248
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:253311
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:26122
    PET_Prickle; The PET domain of Prickle

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    64092236..64445476 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533433.2XP_011531735.1  prickle-like protein 2 isoform X2

    Conserved Domains (4) summary
    cd09415
    Location:222280
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:285340
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:345403
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:118214
    PET_Prickle; The PET domain of Prickle
  2. XM_011533432.2XP_011531734.1  prickle-like protein 2 isoform X1

    Conserved Domains (4) summary
    cd09415
    Location:222280
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:285340
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:345403
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:118214
    PET_Prickle; The PET domain of Prickle
  3. XM_011533440.2XP_011531742.1  prickle-like protein 2 isoform X9

    Conserved Domains (4) summary
    cd09415
    Location:222280
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:285340
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:345403
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:118214
    PET_Prickle; The PET domain of Prickle
  4. XM_011533435.2XP_011531737.1  prickle-like protein 2 isoform X4

    UniProtKB/TrEMBL
    A0A1X7SBR1
    Related
    ENSP00000295902.7, ENST00000295902.11
    Conserved Domains (4) summary
    cd09415
    Location:186244
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:249304
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:309367
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:82178
    PET_Prickle; The PET domain of Prickle
  5. XM_011533434.2XP_011531736.1  prickle-like protein 2 isoform X3

    Conserved Domains (4) summary
    cd09415
    Location:186244
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:249304
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:309367
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:82178
    PET_Prickle; The PET domain of Prickle
  6. XM_011533436.3XP_011531738.1  prickle-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_011531738.1

    Conserved Domains (4) summary
    cd09415
    Location:130188
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:193248
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:253311
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:26122
    PET_Prickle; The PET domain of Prickle
  7. XM_011533437.2XP_011531739.1  prickle-like protein 2 isoform X5

    See identical proteins and their annotated locations for XP_011531739.1

    Conserved Domains (4) summary
    cd09415
    Location:130188
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:193248
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:253311
    LIM3_Prickle; The third LIM domain of Prickle
    cd09827
    Location:26122
    PET_Prickle; The PET domain of Prickle
  8. XM_017005799.1XP_016861288.1  prickle-like protein 2 isoform X8

  9. XM_011533438.2XP_011531740.1  prickle-like protein 2 isoform X7

    Conserved Domains (3) summary
    cd09415
    Location:1371
    LIM1_Prickle; The first LIM domain of Prickle
    cd09418
    Location:76131
    LIM2_Prickle; The second LIM domain of Prickle
    cd09420
    Location:136194
    LIM3_Prickle; The third LIM domain of Prickle
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