Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PCP4 Gene

Aliases for PCP4 Gene

  • Purkinje Cell Protein 4 2 3 5
  • Brain-Specific Polypeptide PEP-19 3 4
  • Brain-Specific Antigen PCP-4 3 4
  • Brain Specific Polypeptide PEP19 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. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot for PCP4 Gene

  • Probable regulator of calmodulin signaling.

Gene Wiki entry for PCP4 Gene

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

Genomics for PCP4 Gene

Regulatory Elements for PCP4 Gene

Enhancers for PCP4 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
GH21F039894 0.9 FANTOM5 17.2 +27.0 27012 0.4 PCP4 SH3BGR PIR52509 GC21M039926
GH21F039788 1.1 Ensembl ENCODE 15.3 -78.6 -78594 0.8 SIN3A RAD21 ZNF143 ZNF207 EGR2 ZNF654 HCFC1 USF2 REST ZNF518A PCP4 IGSF5 ENSG00000231713
GH21F039808 0.2 ENCODE 10 -61.1 -61149 0.2 GATA3 CTBP1 DPF2 PCP4 ENSG00000231713
GH21F040054 0.8 ENCODE 6.6 +187.3 187282 0.2 CTCF PKNOX1 SIN3A RAD21 YY1 GATA3 CTBP1 POLR2A TCF7L2 RFX1 PCP4 GC21M040113 GC21P039975
GH21F040049 0.5 ENCODE 5.3 +182.8 182752 0.2 CTCF TEAD4 PCP4 GC21M040113 GC21P039975
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PCP4 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCP4 Gene

Chromosome:
21
Start:
39,867,317 bp from pter
End:
39,929,397 bp from pter
Size:
62,081 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:
    Purkinje cell protein 4
    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 activated calmodulin, affinity for calcium-bound form is 50-fold greater.

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

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 intrisically disordered, with residual structure localized to the IQ motif.
  • Belongs to the PCP4 family.
Domain:
  • Mostly intrisically disordered, with residual structure localized to the IQ motif.
  • Contains 1 IQ domain.
Family:
  • Belongs to the PCP4 family.
genes like me logo Genes that share domains with PCP4: view

No data available for Gene Families for PCP4 Gene

Function for PCP4 Gene

Molecular function for PCP4 Gene

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
UniProtKB/Swiss-Prot Function:
Probable regulator of calmodulin signaling.

Gene Ontology (GO) - Molecular Function for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
GO:0005516 calmodulin binding IEA --
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:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for PCP4 Gene COMPARTMENTS Subcellular localization image for PCP4 gene
Compartment Confidence
cytosol 5
nucleus 5
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 16780588
GO:0005829 cytosol IDA 16780588
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

SuperPathways for PCP4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007417 central nervous system development TAS 8914602
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

Unigene Clusters for PCP4 Gene

Purkinje cell protein 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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 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, PaxDb, 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
genes like me logo Genes that share expression patterns with PCP4: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt 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 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia PCP4 34 35
  • 95.7 (n)
cow
(Bos Taurus)
Mammalia PCP4 34
  • 91.94 (n)
rat
(Rattus norvegicus)
Mammalia Pcp4 34
  • 90.32 (n)
mouse
(Mus musculus)
Mammalia Pcp4 34 16 35
  • 89.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PCP4 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCP4 34 35
  • 85.48 (n)
zebrafish
(Danio rerio)
Actinopterygii pcp4b 35
  • 65 (a)
OneToMany
pcp4a 35
  • 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)

Paralogs for PCP4 Gene

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

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 Sequence Context AA Info Type
rs1006890 -- 39,893,479(-) CGAGG(C/T)TTCCA intron-variant
rs1006891 -- 39,893,172(-) CACTA(C/T)GGTTT intron-variant
rs1011037 -- 39,896,813(-) TTGAC(A/G)TTCAA intron-variant
rs1034129 -- 39,880,479(+) tgtgc(A/G)tgcgt intron-variant
rs1034130 -- 39,880,721(+) TTTCA(A/G)TTAAA 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)

Relevant External Links for PCP4 Gene

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

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

Disorders for PCP4 Gene

Relevant External Links for PCP4

Genetic Association Database (GAD)
PCP4
Human Genome Epidemiology (HuGE) Navigator
PCP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCP4

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.M. … Antonarakis S.E. (Hum. Genet. 1996) 2 3 4 22 64
  2. Molecular genetic characterization and comparative mapping of the human PCP4 gene. (PMID: 8914602) Cabin D.E. … Reeves R.H. (Somat. Cell Mol. Genet. 1996) 2 3 4 64
  3. PCP4 (PEP19) overexpression induces premature neuronal differentiation associated with Ca(2+) /calmodulin-dependent kinase II-o activation in mouse models of Down syndrome. (PMID: 21491429) Mouton-Liger F. … Creau N. (J. Comp. Neurol. 2011) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. 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

Products for PCP4 Gene

Sources for PCP4 Gene

Content
Loading form....