PCLO - piccolo presynaptic cytomatrix protein Gene

Also Known as ACZ; PCH3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 27445

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

zf-piccolo: Piccolo Zn-finger (586 - 646)

zf-piccolo

zf-piccolo: Piccolo Zn-finger (1057 - 1115)

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (4509 - 4583)

C2

C2: C2 domain (4709 - 4806)

C2

C2: C2 domain (5026 - 5116)

  • 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

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
Others PCLO NCBI