PCLO - piccolo presynaptic cytomatrix protein Gene

Homo sapiens

Also known as ACZ; PCH3

Gene ID: 27445 | Gene type: protein coding

About PCLO

Cytogenetic location: 7q21.11 Genomic coordinates (GRCh38): 7:82,754,012-83,162,884 (from NCBI)

This gene has 9 transcripts (splice variants), 315 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in brain (RPKM 4.9), adrenal (RPKM 1.4) and 9 other tissues.

Summary

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]

PCLO Products(2)

mRNA	Protein	Name
NM_014510.3	NP_055325.2	protein piccolo isoform 2
NM_033026.6	NP_149015.2	protein piccolo isoform 1

PCLO Protein Structure

zf-piccolo

PDZ

0
800
1600
2400
3200
4000
4800
5142 a.a.

Protein Preferred Names

Protein Names

protein piccolo

aczonin

Related Diseases

Diseases

Alias

Pontocerebellar Hypoplasia, Type 3

Pontocerebellar Hypoplasia Type 3	Cerebellar Atrophy With Progressive Microcephaly
PCH3	Clam
Pch With Optic Atrophy	Pontocerebellar Hypoplasia 3
Hypoplasia, Pontocerebellar, Type 3

Pontocerebellar Hypoplasia

Pch	Congenital Pontocerebellar Hypoplasia
Opch	Hypoplasia, Pontocerebellar
Pontoneocerebellar Hypoplasia	Nonsyndromic Pontocerebellar Hypoplasia

Major Depressive Disorder

Seasonal Affective Disorder	Unipolar Depression
Depression	MDD
Depressive Disorder	Unipolar Depression, Susceptibility To
Major Depressive Disorder 1	Major Depressive Disorder, Response To Citalopram Therapy In
Major Depressive Disorder 2	Winter Depression
Single Major Depressive Episode	Sad
Clinical Depression	Major Depression
Depressive Syndrome	Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment
Seasonal Affective Disorder, Susceptibility To	Recurrent Major Depression
Affective Disorder, Seasonal	Depression In A Seasonal Pattern
Depression	Seasonal
Major Depressive Disorder With A Seasonal Pattern	Seasonal Depression
Seasonal Mood Disorder	Mental Depression
Recurrent Major Depressive Episodes

Bipolar Disorder

Bipolar Depression	Manic Disorder
Depression, Bipolar	Bipolar Disorder Manic Phase
Depressive-Manic Psych.	Manic Bipolar Affective Disorder
Manic Bipolar I Disorder	Manic Depression
Manic Depressive Disorder	Mixed Bipolar Disorder
Bipolar Affective Disorder	Bipolar Affective Psychosis
Bipolar Spectrum Disorder	Manic Depressive Illness
Depression Bipolar	Bipolar Disorder, Mixed
Major Affective Disorder	Major Affective Disorder 1
Major Affective Disorder 2

Occupational Dermatitis

Dermatitis, Occupational	Occupational Allergic Contact Dermatitis
Occupational Eczema

N1 Diffuse Large B-Cell Lymphoma

N1 Dlbcl

Doid:0081067

Detrusor Sphincter Dyssynergia

Detrusor And Sphincter Dyssynergia

Pontocerebellar Hypoplasia, Type 1e

Pontocerebellar Hypoplasia Type 1	PCH1E
Norman Disease	Pch1
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease	Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
Pontocerebellar Hypoplasia Type 1e	Pontocerebellar Hypoplasia 1e
Doid:0112322	Doid:0112330

Peho Syndrome

Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy	Infantile Cerebellooptic Atrophy
PEHO	Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
Progressive Encephalopathy-Optic Atrophy Syndrome

Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2	Pontocerebellar Hypoplasia Type 2e
Pch2	PCH2E
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy	Pontocerebellar Hypoplasia 2e
Pcca2	Progressive Cerebello-Cerebral Atrophy Type 2
Doid:0112328	Hypoplasia, Pontocerebellar, Type 2e
Pontocerebellar Hypoplasia, Type 2d	Pontocerebellar Hypoplasia Type 2a

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10155	PCLO Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PCLO	VGNC	VGNC:75595
Felis catus	PCLO	VGNC	VGNC:80649
Rattus norvegicus	PCLO	RGD	RGD:69406
Bos taurus	PCLO	VGNC	VGNC:32633
Mus musculus	PCLO	MGD	MGI:1349390
Canis familiaris	PCLO	VGNC	VGNC:58325