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Aliases for PCP4 Gene

Aliases for PCP4 Gene

  • Purkinje Cell Protein 4 2 3 4 5
  • Brain-Specific Polypeptide PEP-19 3 4
  • Calmodulin Regulator Protein PCP4 3
  • Brain Specific Polypeptide PEP19 3
  • Brain-Specific Antigen PCP-4 3
  • PEP-19 3
  • PEP19 4

External Ids for PCP4 Gene

Previous GeneCards Identifiers for PCP4 Gene

  • GC21P037813
  • GC21P037896
  • GC21P040160
  • GC21P040159
  • GC21P040121
  • GC21P040161
  • GC21P041239
  • GC21P026708

Summaries for PCP4 Gene

GeneCards Summary for PCP4 Gene

PCP4 (Purkinje Cell Protein 4) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for PCP4 Gene

  • Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways (PubMed:21491429).

Gene Wiki entry for PCP4 Gene

Additional gene information for PCP4 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCP4 Gene

Genomics for PCP4 Gene

GeneHancer (GH) Regulatory Elements for PCP4 Gene

Promoters and enhancers for PCP4 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
GH21J039788 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 665.3 -78.6 -78594 0.8 NFIB SIN3A RAD21 RFX5 ZNF335 HSF1 ZNF207 ZNF143 RCOR1 EGR2 PCP4 IGSF5 ENSG00000231713
GH21J039867 Promoter/Enhancer 1.1 EPDnew ENCODE 650.7 +0.0 43 0.2 CTCF PKNOX1 ZNF687 ZNF654 USF1 SIN3A REST RAD21 ZNF217 XRCC5 PCP4 PIR39394
GH21J039808 Enhancer 0.5 ENCODE 10 -61.1 -61148 0.2 SMARCE1 ZNF217 CTBP1 GATA3 TARDBP DPF2 PCP4 ENSG00000231713
GH21J039926 Enhancer 0.4 dbSUPER 12.3 +66.3 66281 14.4 MAFK HES1 GC21M039926 PCP4 B3GALT5-AS1 PIR52509
GH21J040054 Enhancer 0.6 ENCODE 6.6 +187.3 187282 0.2 CTCF PKNOX1 ZNF687 RFX1 NFIB NEUROD1 SIN3A DPF2 MNT FOXA1 PCP4 GC21M040113 GC21P039975 DSCAM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCP4 gene promoter:
  • HSF1 (long)
  • HSF1short
  • Evi-1
  • HFH-1
  • ATF-2
  • Pax-4a
  • NF-E2 p45
  • NF-E2
  • CBF-A
  • CBF(2)

Genomic Locations for PCP4 Gene

Genomic Locations for PCP4 Gene
chr21:39,867,317-39,929,397
(GRCh38/hg38)
Size:
62,081 bases
Orientation:
Plus strand
chr21:41,239,243-41,301,322
(GRCh37/hg19)
Size:
62,080 bases
Orientation:
Plus strand

Genomic View for PCP4 Gene

Genes around PCP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCP4 Gene

Proteins for PCP4 Gene

  • Protein details for PCP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P48539-PCP4_HUMAN
    Recommended name:
    Calmodulin regulator protein PCP4
    Protein Accession:
    P48539
    Secondary Accessions:
    • A6NDJ9
    • Q6ICS4
    • Q93059

    Protein attributes for PCP4 Gene

    Size:
    62 amino acids
    Molecular mass:
    6791 Da
    Quaternary structure:
    • Binds to both calcium-free and calcium-bound calmodulin. The affinity for the calcium-bound form is 50-fold greater.

    Three dimensional structures from OCA and Proteopedia for PCP4 Gene

neXtProt entry for PCP4 Gene

Post-translational modifications for PCP4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCP4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCP4 Gene

Domains & Families for PCP4 Gene

Gene Families for PCP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PCP4 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCP4 Gene

Graphical View of Domain Structure for InterPro Entry

P48539

UniProtKB/Swiss-Prot:

PCP4_HUMAN :
  • Mostly intrinsically disordered, with residual structure localized to the IQ domain which mediates the interaction with calmodulin.
  • Belongs to the PCP4 family.
Domain:
  • Mostly intrinsically disordered, with residual structure localized to the IQ domain which mediates the interaction with calmodulin.
Family:
  • Belongs to the PCP4 family.
genes like me logo Genes that share domains with PCP4: view

Function for PCP4 Gene

Molecular function for PCP4 Gene

UniProtKB/Swiss-Prot Function:
Functions as a modulator of calcium-binding by calmodulin. Thereby, regulates calmodulin activity and the different processes it controls (PubMed:19106096, PubMed:23204517, PubMed:27876793). For instance, may play a role in neuronal differentiation through activation of calmodulin-dependent kinase signaling pathways (PubMed:21491429).
GENATLAS Biochemistry:
Purkinje cell protein 4,rat PEP-19,neuron-specific polypeptide homolog gene,with homology to S100 calcium binding proteins,involved in the development of the central nervous system

Phenotypes From GWAS Catalog for PCP4 Gene

Gene Ontology (GO) - Molecular Function for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 23204517
GO:0005515 protein binding IPI 21044950
GO:0005516 calmodulin binding IPI 19106096
genes like me logo Genes that share ontologies with PCP4: view
genes like me logo Genes that share phenotypes with PCP4: view

Animal Models for PCP4 Gene

MGI Knock Outs for PCP4:
  • Pcp4 Pcp4<tm1.1Kzy>
  • Pcp4 Pcp4<tm1.1Jim>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCP4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PCP4 Gene

Localization for PCP4 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 PCP4 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 16780588
GO:0005829 cytosol HDA 16780588
GO:0032991 protein-containing complex IDA 19106096
genes like me logo Genes that share ontologies with PCP4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PCP4 Gene

Pathways & Interactions for PCP4 Gene

No Data Available

Interacting Proteins for PCP4 Gene

Gene Ontology (GO) - Biological Process for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045666 positive regulation of neuron differentiation IMP 21491429
GO:0099004 calmodulin dependent kinase signaling pathway IMP 21491429
genes like me logo Genes that share ontologies with PCP4: view

No data available for Pathways by source and SIGNOR curated interactions for PCP4 Gene

Drugs & Compounds for PCP4 Gene

(1) Drugs for PCP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PCP4: view

Transcripts for PCP4 Gene

mRNA/cDNA for PCP4 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(105) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PCP4 Gene

Purkinje cell protein 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCP4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCP4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d
SP1: - -
SP2: - -
SP3: - - -
SP4: -

Relevant External Links for PCP4 Gene

GeneLoc Exon Structure for
PCP4
ECgene alternative splicing isoforms for
PCP4

Expression for PCP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCP4 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x13.5), Brain - Caudate (basal ganglia) (x10.6), and Brain - Nucleus accumbens (basal ganglia) (x9.8).

Protein differential expression in normal tissues from HIPED for PCP4 Gene

This gene is overexpressed in Seminal vesicle (28.0) and Fetal Brain (23.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCP4 Gene



Protein tissue co-expression partners for PCP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCP4 Gene:

PCP4

SOURCE GeneReport for Unigene cluster for PCP4 Gene:

Hs.80296

Evidence on tissue expression from TISSUES for PCP4 Gene

  • Nervous system(4.7)
  • Adrenal gland(4.4)
  • Eye(4.4)
  • Kidney(2.3)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with PCP4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCP4 Gene

Orthologs for PCP4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCP4 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PCP4 34 33
  • 95.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCP4 33
  • 91.94 (n)
rat
(Rattus norvegicus)
Mammalia Pcp4 33
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Pcp4 16 34 33
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PCP4 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCP4 34 33
  • 85.48 (n)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pcp4b 34
  • 65 (a)
OneToMany
pcp4a 34
  • 59 (a)
OneToMany
Species where no ortholog for PCP4 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)

Evolution for PCP4 Gene

ENSEMBL:
Gene Tree for PCP4 (if available)
TreeFam:
Gene Tree for PCP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCP4: view image

Paralogs for PCP4 Gene

(1) SIMAP similar genes for PCP4 Gene using alignment to 2 proteins:

  • PCP4_HUMAN
  • F6SSA2_HUMAN
genes like me logo Genes that share paralogs with PCP4: view

No data available for Paralogs for PCP4 Gene

Variants for PCP4 Gene

Sequence variations from dbSNP and Humsavar for PCP4 Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000087964 -- 39,904,774(+) A/G intron_variant
rs1000105368 -- 39,881,128(+) G/A/T intron_variant
rs1000122030 -- 39,916,487(+) T/C intron_variant
rs1000134466 -- 39,891,749(+) G/T intron_variant
rs1000205757 -- 39,906,350(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCP4 Gene

Variant ID Type Subtype PubMed ID
esv3893411 CNV loss 25118596
nsv1056677 CNV gain 25217958
nsv1061454 CNV gain 25217958
nsv3523 CNV insertion 18451855
nsv474231 CNV novel sequence insertion 20440878
nsv587486 CNV loss 21841781
nsv587487 CNV loss 21841781

Variation tolerance for PCP4 Gene

Residual Variation Intolerance Score: 51.8% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCP4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCP4 Gene

Disorders for PCP4 Gene

Additional Disease Information for PCP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PCP4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCP4 Gene

Publications for PCP4 Gene

  1. Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3. (PMID: 8931698) Chen H … Antonarakis SE (Human genetics 1996) 2 3 4 22 58
  2. Molecular genetic characterization and comparative mapping of the human PCP4 gene. (PMID: 8914602) Cabin DE … Reeves RH (Somatic cell and molecular genetics 1996) 2 3 4 58
  3. The calmodulin regulator protein, PEP-19, sensitizes ATP-induced Ca2+ release. (PMID: 23204517) Wang X … Putkey JA (The Journal of biological chemistry 2013) 3 4 58
  4. PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca(2+) /calmodulin-dependent kinase II-δ activation in mouse models of Down syndrome. (PMID: 21491429) Mouton-Liger F … Créau N (The Journal of comparative neurology 2011) 3 4 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for PCP4 Gene

Sources for PCP4 Gene

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