PCLO Chromosome 7
Piccolo presynaptic cytomatrix protein
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What This Gene Does
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]
Gene Info
Gene Group
"C2 domain containing|PDZ domain containing|Zinc fingers PCLO-type"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000186472
Associated Conditions (5)
Inborn genetic diseases
PCLO-related disorder
Pontocerebellar hypoplasia type 3
Sarcoma
Cervical cancer
Key Variants
RS115735993
Conflicting classifications of pathogenicity
Inborn genetic diseases, PCLO-related disorder, Inborn genetic diseases
Health Risk
RS1174934975
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1242031768
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
Health Risk
RS139451754
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 3, Pontocerebellar hypoplasia type 3
Health Risk
RS143064860
Conflicting classifications of pathogenicity
Inborn genetic diseases, PCLO-related disorder, Inborn genetic diseases
Health Risk
RS145077014
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 3, PCLO-related disorder, Pontocerebellar hypoplasia type 3
Health Risk
RS145768205
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149645551
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150515688
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1795765698
Conflicting classifications of pathogenicity
Health Risk
RS181317757
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 3, Inborn genetic diseases, Pontocerebellar hypoplasia type 3
Health Risk
RS182078347
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pontocerebellar hypoplasia type 3, Sarcoma
Health Risk
All Variants (102)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS865939646 | Health Risk | Pathogenic | — |
| RS2484897383 | Health Risk | Pathogenic/Likely pathogenic | PCLO-related disorder, PCLO-related disorder |