Aliases for PCP2 Gene

Aliases for PCP2 Gene

  • Purkinje Cell Protein 2 2 3 5
  • Purkinje Cell Protein 2 Homolog 3 4
  • GPSM4 2 3
  • Purkinje Cell-Specific Protein L7 3
  • Purkinje Cell-Specific Protein 2 3
  • CTD-3214H19.6 3
  • MGC41903 2
  • PCP2 5

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. Diseases associated with PCP2 include Atrial Tachyarrhythmia With Short Pr Interval. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity and GTPase regulator activity.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for PCP2 Gene

Genomics for PCP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J007636 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 600.7 -0.3 -339 2.3 LEF1 POLR2A JUND LARP7 MTA2 ZIC2 RBFOX2 PKNOX1 PATZ1 REST STXBP2 ENSG00000268204 PCP2 PET100 ENSG00000268400 MN297555 L13712-012 RETN
GH19J007635 Promoter 0.4 Ensembl 600.7 +1.8 1825 0.8 ZNF366 ENSG00000268204 PCP2 STXBP2 XAB2 ENSG00000268400 NONHSAG024646.2 L13712-012
GH19J007634 Promoter 0.4 EPDnew 600.7 +3.3 3306 0.1 POLR2A PCP2 ENSG00000268204 ENSG00000268400 NONHSAG024646.2 STXBP2 L13712-012
GH19J007633 Promoter 0.3 EPDnew 600.7 +3.5 3510 0.1 PCP2 ENSG00000268204 ENSG00000268400 NONHSAG024646.2 STXBP2 L13712-012
GH19J007638 Enhancer 0.3 ENCODE 600.7 -1.7 -1724 0.2 CBFA2T2 STXBP2 ENSG00000268204 PCP2 MN297555 ENSG00000268400 L13712-012 RETN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCP2

Top Transcription factor binding sites by QIAGEN in the PCP2 gene promoter:
  • AP-1
  • GR
  • GR-alpha
  • Lmo2
  • Nkx2-5
  • p300
  • SEF-1 (1)
  • Sp1
  • STAT3

Genomic Locations for PCP2 Gene

Genomic Locations for PCP2 Gene
chr19:7,631,611-7,637,026
(GRCh38/hg38)
Size:
5,416 bases
Orientation:
Minus strand
chr19:7,696,497-7,698,634
(GRCh37/hg19)
Size:
2,138 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

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

Suggested Antigen Peptide Sequences for PCP2 Gene

GenScript: Design optimal peptide antigens:
  • Purkinje cell protein 2 homolog (PCP2_HUMAN)
  • Purkinje cell-specific protein 2 long isoform A (Q8IUH7_HUMAN)
genes like me logo Genes that share domains with PCP2: view

No data available for Graphical View of Domain Structure and 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:0005085 guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005515 protein binding IPI 28514442
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCP2

Clone Products

  • Addgene plasmids for PCP2

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for PCP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043025 neuronal cell body IEA --
genes like me logo Genes that share ontologies with PCP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PCP2 Gene

Pathways & Interactions for PCP2 Gene

PathCards logo

SuperPathways 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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCP2

Clone Products

  • Addgene plasmids for PCP2

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

Expression for PCP2 Gene

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



Protein tissue co-expression partners for PCP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCP2

SOURCE GeneReport for Unigene cluster for PCP2 Gene:

Hs.591400

Evidence on tissue expression from TISSUES for PCP2 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with PCP2: view

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 30 31
  • 98.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PCP2 30 31
  • 87.96 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PCP2 30 31
  • 86.76 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pcp2 30
  • 82.91 (n)
Mouse
(Mus musculus)
Mammalia Pcp2 30 17 31
  • 80 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PCP2 31
  • 63 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PCP2 31
  • 48 (a)
OneToOne
Species where no ortholog for PCP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PCP2: view image

Paralogs for PCP2 Gene

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

  • PCP2_HUMAN
  • M0R2R7_HUMAN
  • Q8IUH7_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCP2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
770282 Benign: not provided 7,632,826(-) C/A MISSENSE_VARIANT
rs1862514 Benign: not specified 7,633,434(-) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PCP2 Gene

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)

Additional Variant Information for PCP2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PCP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
atrial tachyarrhythmia with short pr interval
  • lown-ganong-levine syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PCP2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PCP2: view

No data available for 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 23
  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
  3. Conservation of the developmentally regulated dendritic localization of a Purkinje cell-specific mRNA that encodes a G-protein modulator: comparison of rodent and human Pcp2(L7) gene structure and expression. (PMID: 12399102) Zhang X … Oberdick J (Brain research. Molecular brain research 2002) 2 3
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for PCP2 Gene

Sources for PCP2 Gene