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Aliases for PRICKLE2 Gene

Aliases for PRICKLE2 Gene

  • Prickle Planar Cell Polarity Protein 2 2 3 5
  • Prickle Homolog 2 (Drosophila) 2
  • Prickle-Like 2 (Drosophila) 2
  • Prickle-Like Protein 2 3
  • Prickle Homolog 2 3
  • EPM5 3

External Ids for PRICKLE2 Gene

Previous GeneCards Identifiers for PRICKLE2 Gene

  • GC03M063482
  • GC03M063934
  • GC03M064036
  • GC03M064054

Summaries for PRICKLE2 Gene

Entrez Gene Summary for PRICKLE2 Gene

  • 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]

GeneCards Summary for PRICKLE2 Gene

PRICKLE2 (Prickle Planar Cell Polarity Protein 2) is a Protein Coding gene. Diseases associated with PRICKLE2 include Epilepsy, Progressive Myoclonic 5 and Mitochondrial Recessive Ataxia Syndrome. Among its related pathways are Wnt Signaling Pathway and Pluripotency. An important paralog of this gene is PRICKLE1.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRICKLE2 Gene

Genomics for PRICKLE2 Gene

Regulatory Elements for PRICKLE2 Gene

Enhancers for PRICKLE2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G064460 1.1 Ensembl ENCODE 12.7 -16.3 -16295 3.5 PKNOX1 ZNF76 ZNF121 ZNF366 FOS ETV6 RELB CREM SP3 ZBTB11 PRICKLE2 LOC105377123
GH03G064444 0.7 ENCODE 15.2 +0.2 230 1.2 CTCF KLF1 ZNF76 ZFHX2 GLIS2 POLR2A ZBTB48 PATZ1 ZBTB20 EGR2 PRICKLE2 LOC101929316
GH03G064161 1.5 Ensembl ENCODE dbSUPER 7 +282.0 281950 3.7 PKNOX1 FOXA2 SIN3A FEZF1 ZNF121 GLIS2 FOS KLF7 JUNB TSHZ1 PRICKLE2-AS3 PRICKLE2-AS2 PRICKLE2 PRDX3P4
GH03G064184 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.7 +257.2 257221 7.7 PKNOX1 SIN3A FEZF1 GATA2 FOS SP3 JUNB TSHZ1 TBX21 GLIS1 PRICKLE2-AS2 PRICKLE2 PRICKLE2-AS3 GC03M064225
GH03G064156 1.1 ENCODE dbSUPER 7.1 +287.3 287329 2.5 ESRRA PKNOX1 ZNF384 NFXL1 FEZF1 ZNF324 ZNF366 POLR2A ETV6 MAFK PRICKLE2-AS2 PRICKLE2 PRDX3P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRICKLE2 on UCSC Golden Path with GeneCards custom track

Promoters for PRICKLE2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000153715 176 601 CTCF MAZ SP3 KLF1 ZNF76 SP2 GATAD2B ZNF398 ZFHX2 ZBTB48

Genomic Location for PRICKLE2 Gene

Chromosome:
3
Start:
64,092,242 bp from pter
End:
64,445,476 bp from pter
Size:
353,235 bases
Orientation:
Minus strand

Genomic View for PRICKLE2 Gene

Genes around PRICKLE2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRICKLE2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRICKLE2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRICKLE2 Gene

Proteins for PRICKLE2 Gene

  • Protein details for PRICKLE2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z3G6-PRIC2_HUMAN
    Recommended name:
    Prickle-like protein 2
    Protein Accession:
    Q7Z3G6
    Secondary Accessions:
    • Q0VF44

    Protein attributes for PRICKLE2 Gene

    Size:
    844 amino acids
    Molecular mass:
    95615 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRICKLE2 Gene

Post-translational modifications for PRICKLE2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRICKLE2 Gene

Domains & Families for PRICKLE2 Gene

Suggested Antigen Peptide Sequences for PRICKLE2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z3G6

UniProtKB/Swiss-Prot:

PRIC2_HUMAN :
  • Belongs to the prickle / espinas / testin family.
Family:
  • Belongs to the prickle / espinas / testin family.
genes like me logo Genes that share domains with PRICKLE2: view

Function for PRICKLE2 Gene

Gene Ontology (GO) - Molecular Function for PRICKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PRICKLE2: view

Phenotypes for PRICKLE2 Gene

genes like me logo Genes that share phenotypes with PRICKLE2: view

Human Phenotype Ontology for PRICKLE2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRICKLE2 Gene

MGI Knock Outs for PRICKLE2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRICKLE2 Gene

Localization for PRICKLE2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRICKLE2 Gene

Nucleus membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRICKLE2 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for PRICKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IEA --
GO:0031965 nuclear membrane IEA --
genes like me logo Genes that share ontologies with PRICKLE2: view

Pathways & Interactions for PRICKLE2 Gene

SuperPathways for PRICKLE2 Gene

SuperPathway Contained pathways
1 Wnt Signaling Pathway and Pluripotency
genes like me logo Genes that share pathways with PRICKLE2: view

Pathways by source for PRICKLE2 Gene

1 GeneTex pathway for PRICKLE2 Gene
1 KEGG pathway for PRICKLE2 Gene

Gene Ontology (GO) - Biological Process for PRICKLE2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060071 Wnt signaling pathway, planar cell polarity pathway NAS 24431302
genes like me logo Genes that share ontologies with PRICKLE2: view

No data available for SIGNOR curated interactions for PRICKLE2 Gene

Drugs & Compounds for PRICKLE2 Gene

No Compound Related Data Available

Transcripts for PRICKLE2 Gene

Unigene Clusters for PRICKLE2 Gene

Prickle homolog 2 (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRICKLE2 Gene

No ASD Table

Relevant External Links for PRICKLE2 Gene

GeneLoc Exon Structure for
PRICKLE2
ECgene alternative splicing isoforms for
PRICKLE2

Expression for PRICKLE2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRICKLE2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PRICKLE2 Gene

This gene is overexpressed in Ovary (54.8) and Fetal Brain (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRICKLE2 Gene



Protein tissue co-expression partners for PRICKLE2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRICKLE2 Gene:

PRICKLE2

SOURCE GeneReport for Unigene cluster for PRICKLE2 Gene:

Hs.148105

mRNA Expression by UniProt/SwissProt for PRICKLE2 Gene:

Q7Z3G6-PRIC2_HUMAN
Tissue specificity: Expressed in brain, eye and testis. Additionally in fetal brain, adult cartilage, pancreatic islet, gastric cancer and uterus tumors.

Evidence on tissue expression from TISSUES for PRICKLE2 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRICKLE2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • eye
  • head
Limb:
  • foot
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PRICKLE2: view

Primer Products

No data available for mRNA differential expression in normal tissues for PRICKLE2 Gene

Orthologs for PRICKLE2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRICKLE2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRICKLE2 34 35
  • 99.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRICKLE2 35
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRICKLE2 35
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PRICKLE2 34 35
  • 90.28 (n)
cow
(Bos Taurus)
Mammalia PRICKLE2 34 35
  • 89.61 (n)
mouse
(Mus musculus)
Mammalia Prickle2 34 16 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Prickle2 34
  • 89.26 (n)
chicken
(Gallus gallus)
Aves PRICKLE2 34 35
  • 80.05 (n)
lizard
(Anolis carolinensis)
Reptilia PRICKLE2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prickle2 34
  • 77.8 (n)
zebrafish
(Danio rerio)
Actinopterygii prickle2 34 35
  • 65.22 (n)
PRICKLE2 (1 of 2) 35
  • 54 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta esn 35
  • 24 (a)
ManyToMany
pk 35
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea prkl-1 35
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
Species where no ortholog for PRICKLE2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRICKLE2 Gene

ENSEMBL:
Gene Tree for PRICKLE2 (if available)
TreeFam:
Gene Tree for PRICKLE2 (if available)

Paralogs for PRICKLE2 Gene

Paralogs for PRICKLE2 Gene

(12) SIMAP similar genes for PRICKLE2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PRICKLE2: view

Variants for PRICKLE2 Gene

Sequence variations from dbSNP and Humsavar for PRICKLE2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs797045065 Pathogenic 64,159,956(-) GACAG(-/G)AGCTA upstream-variant-2KB, reference, frameshift-variant
rs116353694 Likely benign 64,146,939(+) CGACA(C/T)TGCTG reference, synonymous-codon
rs12494731 Likely benign 64,096,327(+) TGGAG(G/T)AATTA intron-variant, utr-variant-3-prime
rs14056 Likely benign 64,094,813(+) GTGGC(A/C/G/T)ATCTG intron-variant, utr-variant-3-prime
rs142388795 Likely benign 64,225,121(+) ACATT(C/G)CCTCA intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PRICKLE2 Gene

Variant ID Type Subtype PubMed ID
dgv288n21 CNV loss 19592680
esv3596400 CNV loss 21293372
nsv3851 CNV deletion 18451855
nsv476978 CNV novel sequence insertion 20440878
nsv515640 CNV gain 19592680
nsv518137 CNV loss 19592680
nsv522355 CNV loss 19592680
nsv528206 CNV loss 19592680
nsv822111 CNV loss 20364138
nsv834717 CNV gain 17160897

Variation tolerance for PRICKLE2 Gene

Residual Variation Intolerance Score: 2.31% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.10; 38.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRICKLE2 Gene

Human Gene Mutation Database (HGMD)
PRICKLE2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRICKLE2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRICKLE2 Gene

Disorders for PRICKLE2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRICKLE2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic 5
  • epilepsy, progressive myoclonic, 5
mitochondrial recessive ataxia syndrome
  • epilepsy, progressive myoclonic 5
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRIC2_HUMAN
  • Note=PRICKLE2 mutations have been found in patients with myoclonic epilepsy but involvement of this gene in pathogenesis is under debate since some of the patients also carry POLG mutations. {ECO:0000269 PubMed:21276947, ECO:0000269 PubMed:26942291, ECO:0000269 PubMed:26942292}.

Relevant External Links for PRICKLE2

Genetic Association Database (GAD)
PRICKLE2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRICKLE2
genes like me logo Genes that share disorders with PRICKLE2: view

No data available for Genatlas for PRICKLE2 Gene

Publications for PRICKLE2 Gene

  1. Identification and characterization of human PRICKLE1 and PRICKLE2 genes as well as mouse Prickle1 and Prickle2 genes homologous to Drosophila tissue polarity gene prickle. (PMID: 12525887) Katoh M. … Katoh M. (Int. J. Mol. Med. 2003) 2 3 4 22 64
  2. Towards complete sets of farnesylated and geranylgeranylated proteins. (PMID: 17411337) Maurer-Stroh S. … Eisenhaber F. (PLoS Comput. Biol. 2007) 3 4 22 64
  3. Genome-wide association study of vitamin B6, vitamin B12, folate, and homocysteine blood concentrations. (PMID: 19303062) Tanaka T. … Ferrucci L. (Am. J. Hum. Genet. 2009) 3 46 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Response to Sandford et al.: PRICKLE2 variants in epilepsy: A call for precision medicine. (PMID: 26942292) Mahajan V.B. … Bassuk A.G. (Am. J. Hum. Genet. 2016) 4 64

Products for PRICKLE2 Gene

Sources for PRICKLE2 Gene

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