PCLO (piccolo presynaptic cytomatrix protein)

2017-10-01  

Identity

HGNC
PCLO
LOCATION
7q21.11
LOCUSID
27445
ALIAS
ACZ,PCH3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 27445
MIM: 604918
HGNC: 13406
Ensembl: ENSG00000186472

Variants:

dbSNP: 27445
ClinVar: 27445
TCGA: ENSG00000186472
COSMIC: PCLO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186472ENST00000333891Q9Y6V0
ENSG00000186472ENST00000413807H7C261
ENSG00000186472ENST00000423517Q9Y6V0
ENSG00000186472ENST00000437081E9PE96
ENSG00000186472ENST00000456006H7C114
ENSG00000186472ENST00000618073Q9Y6V0

Expression (GTEx)

0
5
10
15
20
25
30
35
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Insulin secretionKEGGhsa04911

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
324934912020No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.4
324934912020No symphony without bassoon and piccolo: changes in synaptic active zone proteins in Huntington's disease.4
282404122017A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.2
282639812017Piccolo mediates EGFR signaling and acts as a prognostic biomarker in esophageal squamous cell carcinoma.20
285408432017Genome-Wide Significance for PCLO as a Gene for Major Depressive Disorder.14
282404122017A 7q21.11 microdeletion presenting with apparent intellectual disability without epilepsy.2
282639812017Piccolo mediates EGFR signaling and acts as a prognostic biomarker in esophageal squamous cell carcinoma.20
285408432017Genome-Wide Significance for PCLO as a Gene for Major Depressive Disorder.14
263914932016GWAS-identified risk variants for major depressive disorder: Preliminary support for an association with late-life depressive symptoms and brain structural alterations.9
277763452016Quantitative proteomics reveals Piccolo as a candidate serological correlate of recovery from Guillain-Barré syndrome.4
263914932016GWAS-identified risk variants for major depressive disorder: Preliminary support for an association with late-life depressive symptoms and brain structural alterations.9
277763452016Quantitative proteomics reveals Piccolo as a candidate serological correlate of recovery from Guillain-Barré syndrome.4
256360862015Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity.87
258178612015The Piccolo Intronic Single Nucleotide Polymorphism rs13438494 Regulates Dopamine and Serotonin Uptake and Shows Associations with Dependence-Like Behavior in Genomic Association Study.4
258326642015Loss of PCLO function underlies pontocerebellar hypoplasia type III.21

Citation

Dessen P

PCLO (piccolo presynaptic cytomatrix protein)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57175/pclo-(piccolo-presynaptic-cytomatrix-protein)