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

Aliases for PCLO Gene

Aliases for PCLO Gene

  • Piccolo Presynaptic Cytomatrix Protein 2 3 5
  • Aczonin 2 3 4
  • Piccolo (Presynaptic Cytomatrix Protein) 2 3
  • ACZ 3 4
  • KIAA0559 4
  • PCH3 3

External Ids for PCLO Gene

Previous GeneCards Identifiers for PCLO Gene

  • GC07M080985
  • GC07M082048
  • GC07M082061
  • GC07M081999
  • GC07M082094
  • GC07M082266
  • GC07M082383
  • GC07M076984

Summaries for PCLO Gene

Entrez Gene Summary for PCLO Gene

  • The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depressive disorder. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

GeneCards Summary for PCLO Gene

PCLO (Piccolo Presynaptic Cytomatrix Protein) is a Protein Coding gene. Diseases associated with PCLO include pontocerebellar hypoplasia, type 3 and vertebral artery insufficiency. Among its related pathways are Insulin secretion. GO annotations related to this gene include calcium ion binding and transporter activity. An important paralog of this gene is BSN.

UniProtKB/Swiss-Prot for PCLO Gene

  • May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.

Gene Wiki entry for PCLO Gene

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

Genomics for PCLO Gene

Regulatory Elements for PCLO Gene

Enhancers for PCLO Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCLO on UCSC Golden Path with GeneCards custom track

Promoters for PCLO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCLO on UCSC Golden Path with GeneCards custom track

Genomic Location for PCLO Gene

Chromosome:
7
Start:
82,754,005 bp from pter
End:
83,162,930 bp from pter
Size:
408,926 bases
Orientation:
Minus strand

Genomic View for PCLO Gene

Genes around PCLO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PCLO Gene

Proteins for PCLO Gene

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

    Protein Symbol:
    Q9Y6V0-PCLO_HUMAN
    Recommended name:
    Protein piccolo
    Protein Accession:
    Q9Y6V0
    Secondary Accessions:
    • A4D1A7
    • A6NNX9
    • O43373
    • O60305
    • Q08E72
    • Q9BVC8
    • Q9UIV2
    • Q9Y6U9

    Protein attributes for PCLO Gene

    Size:
    5065 amino acids
    Molecular mass:
    553277 Da
    Quaternary structure:
    • Interacts with RABAC1/PRA1, RIMS2 and profilin.
    SequenceCaution:
    • Sequence=AAB97937.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAD21789.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCLO Gene

    Alternative splice isoforms for PCLO Gene

neXtProt entry for PCLO Gene

Proteomics data for PCLO Gene at MOPED

Post-translational modifications for PCLO Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PCLO Gene

Antibody Products

No data available for DME Specific Peptides for PCLO Gene

Domains & Families for PCLO Gene

Suggested Antigen Peptide Sequences for PCLO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y6V0

UniProtKB/Swiss-Prot:

PCLO_HUMAN :
  • C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change.
Domain:
  • C2 domain 1 is involved in binding calcium and phospholipids. Calcium binds with low affinity but with high specificity and induces a large conformational change.
  • Contains 2 C2 domains.
  • Contains 1 PDZ (DHR) domain.
genes like me logo Genes that share domains with PCLO: view

Function for PCLO Gene

Molecular function for PCLO Gene

UniProtKB/Swiss-Prot Function:
May act as a scaffolding protein involved in the organization of synaptic active zones and in synaptic vesicle trafficking.
genes like me logo Genes that share phenotypes with PCLO: view

Human Phenotype Ontology for PCLO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PCLO Gene

MGI Knock Outs for PCLO:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PCLO Gene

Localization for PCLO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCLO Gene

Cell junction, synapse. Note=Concentrated at the presynaptic side of synaptic junctions. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCLO Gene COMPARTMENTS Subcellular localization image for PCLO gene
Compartment Confidence
cytoskeleton 5
extracellular 5
cytosol 3
nucleus 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PCLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005829 cytosol NAS 10508862
GO:0016021 integral component of membrane IEA --
GO:0048788 cytoskeleton of presynaptic active zone TAS 15217342
GO:0070062 extracellular exosome IDA 18570454
genes like me logo Genes that share ontologies with PCLO: view

Pathways & Interactions for PCLO Gene

SuperPathways for PCLO Gene

Superpath Contained pathways
1 Insulin secretion
genes like me logo Genes that share pathways with PCLO: view

Pathways by source for PCLO Gene

1 KEGG pathway for PCLO Gene

Gene Ontology (GO) - Biological Process for PCLO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007416 synapse assembly IEA --
GO:0030073 insulin secretion IEA --
genes like me logo Genes that share ontologies with PCLO: view

No data available for SIGNOR curated interactions for PCLO Gene

Drugs & Compounds for PCLO Gene

(1) Drugs for PCLO Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCLO: view

Transcripts for PCLO Gene

Unigene Clusters for PCLO Gene

Piccolo presynaptic cytomatrix protein:
Representative Sequences:

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

No ASD Table

Relevant External Links for PCLO Gene

GeneLoc Exon Structure for
PCLO
ECgene alternative splicing isoforms for
PCLO

Expression for PCLO Gene

mRNA expression in normal human tissues for PCLO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellum (x6.6), Brain - Cerebellar Hemisphere (x6.3), and Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for PCLO Gene

This gene is overexpressed in Frontal cortex (25.1), Fetal gut (12.3), and Spinal cord (11.1).

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



SOURCE GeneReport for Unigene cluster for PCLO Gene Hs.12376

mRNA Expression by UniProt/SwissProt for PCLO Gene

Q9Y6V0-PCLO_HUMAN
Tissue specificity: Moderately expressed in the developing cerebral cortex.
genes like me logo Genes that share expression patterns with PCLO: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for PCLO Gene

Orthologs for PCLO Gene

This gene was present in the common ancestor of animals.

Orthologs for PCLO Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PCLO 35
  • 88.47 (n)
  • 87.57 (a)
PCLO 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCLO 35
  • 82.74 (n)
  • 76.95 (a)
PCLO 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pclo 35
  • 84.46 (n)
  • 84.73 (a)
Pclo 16
Pclo 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCLO 35
  • 99.57 (n)
  • 99.46 (a)
PCLO 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pclo 35
  • 84.19 (n)
  • 84.98 (a)
oppossum
(Monodelphis domestica)
Mammalia PCLO 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCLO 36
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCLO 35
  • 71.34 (n)
  • 68.83 (a)
PCLO 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCLO 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pclo 35
  • 66.36 (n)
  • 63.91 (a)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-108d22.4 35
  • 60.73 (n)
  • 58.84 (a)
pcloa 36
  • 49 (a)
OneToMany
pclob 36
  • 43 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F45E4.3 36
  • 26 (a)
OneToMany
Species with no ortholog for PCLO:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • wheat (Triticum aestivum)

Evolution for PCLO Gene

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

Paralogs for PCLO Gene

Paralogs for PCLO Gene

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

Variants for PCLO Gene

Sequence variations from dbSNP and Humsavar for PCLO Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10261848 - 82,952,942(+) AGTAG(G/T)GAGAA reference, missense
rs976714 - 82,952,543(+) ACTTG(C/T)ACTAG reference, missense
rs886666 -- 83,006,233(+) TAAAA(A/G)ATATT intron-variant
rs886667 -- 83,006,257(+) CATAA(C/T)AGAAA intron-variant
rs929355 -- 83,108,940(+) AGTAA(C/T)TGTGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv2752186 CNV Gain 17911159
nsv524315 CNV Gain 19592680
nsv831046 CNV Gain 17160897
esv2677988 CNV Deletion 23128226
nsv5817 CNV Loss 18451855
nsv888589 CNV Loss 21882294
esv268993 CNV Insertion 20981092
esv273156 CNV Insertion 20981092
dgv7362n71 CNV Loss 21882294
dgv7363n71 CNV Loss 21882294
nsv818530 CNV Loss 17921354
esv269327 CNV Insertion 20981092
esv2641869 CNV Deletion 19546169
nsv824188 CNV Loss 20364138
esv269417 CNV Insertion 20981092
esv2675648 CNV Deletion 23128226
nsv519920 CNV Loss 19592680
nsv888594 CNV Loss 21882294
esv1579695 CNV Insertion 17803354
nsv442054 CNV CNV 18776908
nsv888595 CNV Loss 21882294
dgv7364n71 CNV Loss 21882294
nsv888599 CNV Loss 21882294
nsv464614 CNV Loss 19166990
esv1000997 CNV Deletion 20482838
nsv819983 CNV Gain 19587683
dgv7365n71 CNV Loss 21882294
nsv528771 CNV Loss 19592680

Variation tolerance for PCLO Gene

Residual Variation Intolerance Score: 1.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.90; 99.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCLO Gene

HapMap Linkage Disequilibrium report
PCLO
Human Gene Mutation Database (HGMD)
PCLO

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

Disorders for PCLO Gene

MalaCards: The human disease database

(7) MalaCards diseases for PCLO Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
pontocerebellar hypoplasia, type 3
  • pontocerebellar hypoplasia type 3
vertebral artery insufficiency
  • vertebral artery syndrome
corneal dystrophy, lisch epithelial
  • lisch epithelial corneal dystrophy
pontocerebellar hypoplasia
  • pch
cerebral arterial disease
  • cerebral arterial diseases
- elite association - COSMIC cancer census association via MalaCards
Search PCLO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PCLO_HUMAN
  • Pontocerebellar hypoplasia 3 (PCH3) [MIM:608027]: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum. Brain MRI shows an abnormally small cerebellum and brainstem, decreased cerebral white matter, and a thin corpus callosum. PCH3 features include seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay. {ECO:0000269 PubMed:25832664}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PCLO

Genetic Association Database (GAD)
PCLO
Human Genome Epidemiology (HuGE) Navigator
PCLO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCLO
genes like me logo Genes that share disorders with PCLO: view

No data available for Genatlas for PCLO Gene

Publications for PCLO Gene

  1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 2 3 4 67
  2. Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (PMID: 19065144) Sullivan P.F. … Penninx B.W. (Mol. Psychiatry 2009) 3 23
  3. Piccolo, a novel 420 kDa protein associated with the presynaptic cytomatrix. (PMID: 8900486) Cases-Langhoff C. … Garner C.C. (Eur. J. Cell Biol. 1996) 2 3
  4. Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity. (PMID: 25636086) Fujimoto A. … Nakagawa H. (Nat Commun 2015) 3
  5. The Piccolo Intronic Single Nucleotide Polymorphism rs13438494 Regulates Dopamine and Serotonin Uptake and Shows Associations with Dependence-Like Behavior in Genomic Association Study. (PMID: 25817861) Uno K. … Nitta A. (Curr. Mol. Med. 2015) 3

Products for PCLO Gene

Sources for PCLO Gene

Content