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Aliases for PCP2 Gene

Aliases for PCP2 Gene

  • Purkinje Cell Protein 2 2 3 5
  • Purkinje Cell Protein 2 Homolog 3 4
  • Purkinje Cell-Specific Protein L7 3
  • Purkinje Cell-Specific Protein 2 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. Diseases associated with PCP2 include Hemophagocytic Lymphohistiocytosis, Familial, 5. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for PCP2 Gene

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 2 EPDnew Ensembl ENCODE 600.7 -0.5 -527 2.2 SP1 CC2D1A ZFX ELF3 MNT ZNF148 MLLT1 POLR2A GTF2F1 ZNF687 STXBP2 PCP2 ENSG00000268204 PET100 ENSG00000268400 RPS27AP19
GH19J007633 Promoter 0.5 EPDnew 600.7 +3.5 3451 0.1 PCP2 STXBP2 ENSG00000268400
GH19J007634 Promoter 0.5 EPDnew 600.7 +3.2 3247 0.1 PCP2 ENSG00000268400 STXBP2
GH19J007638 Enhancer 0.3 ENCODE 600.7 -1.8 -1783 0.2 CBFA2T2 STXBP2 ENSG00000268204 PCP2 ENSG00000268400 RPS27AP19
GH19J007616 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.9 +18.5 18529 4.9 NFIB NCOA3 SP1 RXRA ZNF300 ZNF776 ZNF341 ZFX SP2 SCRT2 MIR6792 XAB2 ELAVL1 HNRNPM PET100 PCP2 CAMSAP3 ZNF414 CLEC4G MAP2K7
- 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 UCSC Golden Path with GeneCards custom track

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
chr19:7,631,611-7,636,967
(GRCh38/hg38)
Size:
5,357 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)

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:0005085 guanyl-nucleotide exchange factor activity IBA 21873635
GO:0005515 protein binding IEA --
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

  • Applied Biological Materials (abm): Clones for PCP2 - Now 50% OFF >
  • * PCP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCP2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
extracellular 1
nucleus 1
cytosol 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:0016056 rhodopsin mediated signaling pathway IBA --
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) Additional mRNA sequences :
(22) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PCP2 Gene

Purkinje cell protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

  • Applied Biological Materials (abm): Clones for PCP2 - Now 50% OFF >
  • * PCP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PCP2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
  • 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
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 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

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 35 34
  • 98.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCP2 35 34
  • 87.96 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PCP2 34 35
  • 86.76 (n)
rat
(Rattus norvegicus)
Mammalia Pcp2 34
  • 82.91 (n)
mouse
(Mus musculus)
Mammalia Pcp2 17 35 34
  • 80 (n)
oppossum
(Monodelphis domestica)
Mammalia PCP2 35
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCP2 35
  • 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)
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 from dbSNP and Humsavar for PCP2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs146165014 likely-benign, benign, not specified, Hemophagocytic lymphohistiocytosis, familial, 5 7,638,737(-) G/A upstream_transcript_variant
rs587779779 pathogenic, Congenital lactic acidosis, Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency 7,631,476(-) C/T downstream_transcript_variant
rs8104339 benign, not specified, Familial hemophagocytic lymphohistiocytosis 7,638,719(-) C/T upstream_transcript_variant
rs886054700 uncertain-significance, Familial hemophagocytic lymphohistiocytosis 7,637,163(-) G/A upstream_transcript_variant
rs1057522294 likely-benign, not specified 7,631,458(-) C/A/G/T downstream_transcript_variant

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

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

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: GeneCards

Disorder Aliases PubMed IDs
hemophagocytic lymphohistiocytosis, familial, 5
  • fhl5
- elite association - COSMIC cancer census association via MalaCards
Search PCP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PCP2

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 58
  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 58
  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 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58

Products for PCP2 Gene

Sources for PCP2 Gene

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