Aliases for PCLO Gene
Aliases for PCLO Gene
External Ids for PCLO Gene
- HGNC: 13406
- Entrez Gene: 27445
- Ensembl: ENSG00000186472
- OMIM: 604918
- UniProtKB: Q9Y6V0
Previous GeneCards Identifiers for PCLO Gene
- GC07M080985
- GC07M082048
- GC07M082061
- GC07M081999
- GC07M082094
- GC07M082266
- GC07M082383
- GC07M076984
Summaries 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 Splenic Flexure Cancer. Among its related pathways are Aldosterone synthesis and secretion. Gene Ontology (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.
Additional gene information for PCLO Gene
- Monarch Initiative
- Search for PCLO at DataMed
- Search for PCLO at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCLO Gene
Genomics for PCLO Gene
GeneHancer (GH) Regulatory Elements for PCLO 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH07I083161 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE | 557.2 | +0.3 | 305 | 1.8 | ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 ZNF143 SP3 SP5 ZHX2 | PCLO RNA5SP235 | |
GH07I083162 | Enhancer | 0.5 | ENCODE | 550.8 | +1.5 | 1530 | 0.2 | SAP130 SIN3A MIER2 REST SP7 | PCLO RNA5SP235 | |
GH07I082804 | Enhancer | 0.8 | Ensembl ENCODE | 0.1 | +357.4 | 357359 | 1.3 | JUN MAX BACH1 EP300 MAFF JUND POLR2A FOS FOSL2 RCOR1 | LOC105375376 GC07P083018 PCLO | |
GH07I082858 | Enhancer | 0.4 | ENCODE | 0.1 | +303.3 | 303304 | 1.4 | CTCF JUN | GC07P083018 LOC105375376 PCLO | |
GH07I083036 | Enhancer | 0.2 | ENCODE | 0.1 | +125.9 | 125933 | 0.6 | RNA5SP235 PCLO |
- Top Transcription factor binding sites by QIAGEN in the PCLO gene promoter:
Regulatory Element Products
Genomic Locations for PCLO Gene
- chr7:82,754,005-83,162,930
- (GRCh38/hg38)
- Size:
- 408,926 bases
- Orientation:
- Minus strand
- chr7:82,383,321-82,792,246
- (GRCh37/hg19)
Genomic View for PCLO Gene
- Cytogenetic band:
-
- 7q21.11 by Ensembl
- 7q21.11 by Entrez Gene
- 7q21.11 by HGNC


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
- 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};
Protein Expression for PCLO Gene
Post-translational modifications for PCLO Gene
Other Protein References for PCLO Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for PCLO (Piccolo)
-
Custom Antibody ServicesOriGene Antibodies for PCLO
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-
Abcam antibodies for PCLO
- Invitrogen Antibodies for PCLO
- GeneTex PCLO antibody for PCLO
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for PCLO
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-
Abcam proteins for PCLO
Assay Products
No data available for DME Specific Peptides for PCLO Gene
Domains & Families for PCLO Gene
Gene Families for PCLO Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PCLO Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PCLO Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y6V0UniProtKB/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.
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.
Phenotypes From GWAS Catalog for PCLO Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005509 | calcium ion binding | ISS | -- |
GO:0005522 | profilin binding | ISS | -- |
GO:0005544 | calcium-dependent phospholipid binding | ISS | -- |
GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for PCLO Gene
- MGI mutant phenotypes for PCLO:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for PCLO:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for PCLO gene
-
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- Search ViGene Biosciences for PCLO
CRISPR Products
-
OriGene CRISPR knockouts for PCLO
- genomics-online: gRNA clones - Search results for 84 available PCLO gene related products
- Overview of 84 available PCLO gene related products
- Applied Biological Materials CRISPR for PCLO
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCLO
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miRNA for PCLO Gene
- miRTarBase miRNAs that target PCLO
miRNA Products
- Search ViGene Biosciences for PCLO
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for PCLO
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-
ViGene Biosciences ready-to-package AAV shRNAs for PCLO gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PCLO
-
ViGene Biosciences adenoviral particle packaged cDNA for PCLO gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PCLO gene
-
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No data available for Enzyme Numbers (IUBMB) , 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}.
- Nuclear speckles (2)
- Plasma membrane (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005856 | cytoskeleton | NAS | 10508862 |
GO:0014069 | postsynaptic density | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for PCLO Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Aldosterone synthesis and secretion |
Pathways by source for PCLO Gene
1 KEGG pathway for PCLO Gene
Interacting Proteins for PCLO Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007010 | cytoskeleton organization | ISS | -- |
GO:0007416 | synapse assembly | IEA | -- |
GO:0016079 | synaptic vesicle exocytosis | NAS | 10508862 |
GO:0017157 | regulation of exocytosis | IEA | -- |
GO:0019933 | cAMP-mediated signaling | IEA | -- |
No data available for SIGNOR curated interactions for PCLO Gene
Drugs & Compounds for PCLO Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
calcium | Approved | Nutra | 0 |
Transcripts for PCLO Gene
mRNA/cDNA for PCLO Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (4) Selected AceView cDNA sequences:
- (9) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PCLO Gene
CRISPR Products
-
OriGene CRISPR knockouts for PCLO
- genomics-online: gRNA clones - Search results for 84 available PCLO gene related products
- Overview of 84 available PCLO gene related products
- Applied Biological Materials CRISPR for PCLO
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PCLO
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miRNA Products
- Search ViGene Biosciences for PCLO
Inhibitory RNA Products
- Origene RNAi, shrna, and sirna products in human, mouse, rat for PCLO
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- genomics-online: shRNA clones - Search results for 84 available PCLO gene related products
- Overview of 84 available PCLO gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PCLO gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Applied Biological Materials Clones for PCLO
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PCLO Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epidermis (Integumentary System)
- Basal Keratinocytes Embryonic Epidermis
-
Epithelial Cells
- Basal Keratinocytes Embryonic Epidermis
-
Hair
- Basal Keratinocytes Embryonic Epidermis
mRNA differential expression in normal tissues according to GTEx for PCLO Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCLO Gene
NURSA nuclear receptor signaling pathways regulating expression of PCLO Gene:
PCLOSOURCE GeneReport for Unigene cluster for PCLO Gene:
Hs.12376mRNA Expression by UniProt/SwissProt for PCLO Gene:
Q9Y6V0-PCLO_HUMANEvidence on tissue expression from TISSUES for PCLO Gene
- Nervous system(4.8)
- Blood(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PCLO Gene
- ectoderm
- mesoderm
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- brain
- cerebellum
- cheek
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- lip
- mouth
- neck
- nose
- outer ear
- skull
- chest wall
- abdominal wall
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for PCLO
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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | PCLO 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | PCLO 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Pclo 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Pclo 33 |
|
||
dog (Canis familiaris) |
Mammalia | PCLO 33 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PCLO 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | PCLO 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | PCLO 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | PCLO 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | pclo 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | si:dkey-108d22.4 33 |
|
||
pcloa 34 |
|
OneToMany | |||
pclob 34 |
|
OneToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | F45E4.3 34 |
|
OneToMany |
- Species where no ortholog for PCLO 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)
- 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)
Paralogs for PCLO Gene
(11) SIMAP similar genes for PCLO Gene using alignment to 6 proteins:
Variants for PCLO Gene
SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs746260871 | pathogenic, Pontocerebellar hypoplasia type 3 | 82,949,964(-) | G/A/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, stop_gained | |
rs149360770 | likely-benign, not specified | 82,822,584(-) | T/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
rs370030206 | uncertain-significance, not provided | 82,949,751(-) | C/A | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
rs372909168 | uncertain-significance, not provided | 82,955,559(-) | T/C | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
rs1060499888 | uncertain-significance, not specified | 82,953,681(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant |
Additional Variant Information for PCLO Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCLO Gene
Disorders for PCLO Gene

(13) MalaCards diseases for PCLO Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
pontocerebellar hypoplasia, type 3 |
|
|
splenic flexure cancer |
|
|
major depressive disorder |
|
|
vertebral artery insufficiency |
|
|
descending colon cancer |
|
|
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.
Additional Disease Information for PCLO
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for PCLO Gene
Publications for PCLO Gene
- Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo. (PMID: 19065144) Sullivan PF … Penninx BW (Molecular psychiatry 2009) 3 22 44 58
- 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
- Loss of PCLO function underlies pontocerebellar hypoplasia type III. (PMID: 25832664) Ahmed MY … Mochida GH (Neurology 2015) 3 4 58
- Genome-wide association analysis of gender differences in major depressive disorder in the Netherlands NESDA and NTR population-based samples. (PMID: 21621269) Aragam N … Pan Y (Journal of affective disorders 2011) 3 44 58
- Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 44 58
Products for PCLO Gene
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- antibodies-online: Search results for available PCLO related products ranked by validation data
- GeneTex PCLO antibody for PCLO
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- genomics-online: cdna clones - Search results for 84 available PCLO gene related products
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- Overview of 84 available PCLO gene related products
- genomics-online: gRNA clones - Search results for 84 available PCLO gene related products
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- Overview of 84 available PCLO gene related products
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- Overview of 84 available PCLO gene related products
Sources for PCLO Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
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