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Aliases for PCP2 Gene

Aliases for PCP2 Gene

  • Purkinje Cell Protein 2 2 3 5
  • Purkinje Cell-Specific Protein L7 3
  • Purkinje Cell-Specific Protein 2 3
  • Purkinje Cell Protein 2 Homolog 3
  • CTD-3214H19.6 3
  • GPSM4 3

External Ids for PCP2 Gene

Previous GeneCards Identifiers for PCP2 Gene

  • GC19M007602
  • GC19M007366
  • GC19M007696

Summaries for PCP2 Gene

GeneCards Summary for PCP2 Gene

PCP2 (Purkinje Cell Protein 2) is a Protein Coding gene. GO annotations related to this gene include guanyl-nucleotide exchange factor activity and GTPase regulator activity.

UniProtKB/Swiss-Prot for PCP2 Gene

  • May function as a cell-type specific modulator for G protein-mediated cell signaling.

Additional gene information for PCP2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCP2 Gene

Genomics for PCP2 Gene

Regulatory Elements for PCP2 Gene

Enhancers for PCP2 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
GH19H007656 1.4 FANTOM5 Ensembl ENCODE 13.7 -21.0 -21038 2 PKNOX1 BMI1 ZNF384 CEBPG RFX5 ZFHX2 POLR2A SCRT2 FOS NR2F6 XAB2 PCP2 STXBP2 MCEMP1 MCOLN1 PEX11G RPS27AP19 ENSG00000268204
GH19H007498 0.3 FANTOM5 48.1 +138.1 138143 0 TEX45 PCP2 PNPLA6 EVI5L PEX11G ENSG00000267952
GH19H007643 0.9 Ensembl ENCODE 12.8 -8.2 -8231 3 HDGF SP3 KLF1 PTBP1 SP2 SP1 ZNF366 POLR2A KLF9 ZNF600 STXBP2 PET100 PCP2 ENSG00000268204 XAB2 RPS27AP19
GH19H007617 1 ENCODE dbSUPER 10.1 +17.6 17559 2 KLF1 NFIB ZNF195 ZBTB7B YY1 HIC1 E2F1 ZNF776 GATA3 LCORL ELAVL1 HNRNPM ZNF414 XAB2 PCP2 MAP2K7 RETN MIR6792
GH19H007158 1.4 Ensembl ENCODE dbSUPER 5.2 +477.4 477431 2 PKNOX1 ATF1 INSM2 ZNF76 KLF17 ZNF121 ZNF366 ATF7 SP3 ZNF362 ARHGEF18 PCP2 GC19P007151 GC19P007214
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCP2 on UCSC Golden Path with GeneCards custom track

Promoters for PCP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000106695 -533 1001 HDGF PKNOX1 ATF1 SIN3A ARID4B YY1 TCF12 ELK1 ZNF143 ATF7

Genomic Location for PCP2 Gene

Chromosome:
19
Start:
7,631,611 bp from pter
End:
7,636,967 bp from pter
Size:
5,357 bases
Orientation:
Minus strand

Genomic View for PCP2 Gene

Genes around PCP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCP2 Gene

Proteins for PCP2 Gene

  • Protein details for PCP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IVA1-PCP2_HUMAN
    Recommended name:
    Purkinje cell protein 2 homolog
    Protein Accession:
    Q8IVA1
    Secondary Accessions:
    • M0R2R7
    • Q3KRG7

    Protein attributes for PCP2 Gene

    Size:
    136 amino acids
    Molecular mass:
    14547 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCP2 Gene

Post-translational modifications for PCP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCP2 Gene

No data available for DME Specific Peptides for PCP2 Gene

Domains & Families for PCP2 Gene

Gene Families for PCP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCP2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCP2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCP2: view

No data available for UniProtKB/Swiss-Prot for PCP2 Gene

Function for PCP2 Gene

Molecular function for PCP2 Gene

UniProtKB/Swiss-Prot Function:
May function as a cell-type specific modulator for G protein-mediated cell signaling.

Phenotypes From GWAS Catalog for PCP2 Gene

Gene Ontology (GO) - Molecular Function for PCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030695 GTPase regulator activity IEA --
genes like me logo Genes that share ontologies with PCP2: view
genes like me logo Genes that share phenotypes with PCP2: view

Animal Models for PCP2 Gene

MGI Knock Outs for PCP2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCP2
  • Applied Biological Materials Clones for PCP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PCP2 Gene

Localization for PCP2 Gene

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 PCP2 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PCP2 Gene

Pathways & Interactions for PCP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with PCP2: view

No data available for Pathways by source and SIGNOR curated interactions for PCP2 Gene

Drugs & Compounds for PCP2 Gene

No Compound Related Data Available

Transcripts for PCP2 Gene

mRNA/cDNA for PCP2 Gene

Unigene Clusters for PCP2 Gene

Purkinje cell protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PCP2
  • Applied Biological Materials Clones for PCP2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2:

Relevant External Links for PCP2 Gene

GeneLoc Exon Structure for
PCP2
ECgene alternative splicing isoforms for
PCP2

Expression for PCP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCP2 Gene

This gene is overexpressed in Testis (x21.9), Brain - Cerebellum (x7.8), and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for PCP2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCP2 Gene



Protein tissue co-expression partners for PCP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCP2 Gene:

PCP2

SOURCE GeneReport for Unigene cluster for PCP2 Gene:

Hs.591400

Evidence on tissue expression from TISSUES for PCP2 Gene

  • Nervous system(2.9)
genes like me logo Genes that share expression patterns with PCP2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCP2 Gene

Orthologs for PCP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCP2 33 34
  • 98.53 (n)
cow
(Bos Taurus)
Mammalia PCP2 33 34
  • 87.96 (n)
dog
(Canis familiaris)
Mammalia PCP2 33 34
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Pcp2 33
  • 82.91 (n)
mouse
(Mus musculus)
Mammalia Pcp2 33 16 34
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia PCP2 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCP2 34
  • 48 (a)
OneToOne
Species where no ortholog for PCP2 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PCP2 Gene

ENSEMBL:
Gene Tree for PCP2 (if available)
TreeFam:
Gene Tree for PCP2 (if available)

Paralogs for PCP2 Gene

(2) SIMAP similar genes for PCP2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PCP2: view

No data available for Paralogs for PCP2 Gene

Variants for PCP2 Gene

Sequence variations from dbSNP and Humsavar for PCP2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs587779779 Pathogenic 7,631,476(+) AGCTT(C/T)AAGAG intron-variant, nc-transcript-variant, downstream-variant-500B, upstream-variant-2KB, reference, stop-gained
rs146165014 Likely benign 7,638,737(+) TGAGC(A/G)GAGTT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs886038578 Likely benign 7,637,112(+) CTTGG(-/G)ACACA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs886054700 Uncertain significance 7,637,163(+) CTCGG(A/G)GCTGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs115668246 Benign 7,638,696(+) CCAGC(A/C)TTCTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PCP2 Gene

Variant ID Type Subtype PubMed ID
esv2751809 CNV gain 17911159
nsv1060887 CNV gain 25217958
nsv833730 CNV loss 17160897
nsv833731 CNV loss 17160897
nsv953958 CNV deletion 24416366

Variation tolerance for PCP2 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.38; 54.07% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCP2 Gene

Disorders for PCP2 Gene

Relevant External Links for PCP2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCP2

No disorders were found for PCP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCP2 Gene

Publications for PCP2 Gene

  1. G-protein alpha subunit interaction and guanine nucleotide dissociation inhibitor activity of the dual GoLoco motif protein PCP-2 (Purkinje cell protein-2). (PMID: 16298104) Willard FS … Siderovski DP (Cellular signalling 2006) 3 22 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 60

Products for PCP2 Gene

  • Addgene plasmids for PCP2

Sources for PCP2 Gene

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