PCNT Chromosome 21
Pericentrin
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What This Gene Does
The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif called the PACT domain near its C-terminus. The protein interacts with the microtubule nucleation component gamma-tubulin and is likely important to normal functioning of the centrosomes, cytoskeleton, and cell-cycle progression. Mutations in this gene cause Seckel syndrome-4 and microcephalic osteodysplastic primordial dwarfism type II. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Associated Conditions (13)
PCNT-related disorder
Inborn genetic diseases
Microcephalic osteodysplastic primordial dwarfism type II
Intellectual disability
Global developmental delay
Microcephaly
Hepatocellular carcinoma
Familial cancer of breast
Thymoma
Cervical cancer
See cases
Sarcoma
Melanoma
Key Variants
RS1029955995
Conflicting classifications of pathogenicity
PCNT-related disorder, Inborn genetic diseases, PCNT-related disorder
Health Risk
RS1064793985
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS112231246
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS112633352
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS113208348
Conflicting classifications of pathogenicity
PCNT-related disorder, PCNT-related disorder
Health Risk
RS113342730
Conflicting classifications of pathogenicity
Inborn genetic diseases, PCNT-related disorder, Inborn genetic diseases
Health Risk
RS113591604
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Intellectual disability
Health Risk
RS113731555
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS115369710
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS1170990391
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS1229663143
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
RS1234384421
Conflicting classifications of pathogenicity
Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
Health Risk
All Variants (485)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2518083790 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518099526 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518117829 | Health Risk | Likely pathogenic | — |
| RS2518128693 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518152935 | Health Risk | Likely pathogenic | — |
| RS2518223728 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518225113 | Health Risk | Likely pathogenic | — |
| RS2518262867 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518418801 | Health Risk | Likely pathogenic | — |
| RS2518529289 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518529653 | Health Risk | Likely pathogenic | — |
| RS2518545084 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518620363 | Health Risk | Likely pathogenic | PCNT-related disorder, PCNT-related disorder |
| RS2518828818 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518829736 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518961833 | Health Risk | Likely pathogenic | — |
| RS2518971757 | Health Risk | Likely pathogenic | PCNT-related disorder, PCNT-related disorder |
| RS2518972061 | Health Risk | Likely pathogenic | — |
| RS2518995848 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS2518995993 | Health Risk | Likely pathogenic | — |
| RS2519073881 | Health Risk | Likely pathogenic | — |
| RS2519140512 | Health Risk | Likely pathogenic | — |
| RS2519159409 | Health Risk | Likely pathogenic | — |
| RS369066052 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Familial cancer of breast |
| RS747483671 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS750764149 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS756524704 | Health Risk | Likely pathogenic | — |
| RS759918881 | Health Risk | Likely pathogenic | — |
| RS759958419 | Health Risk | Likely pathogenic | — |
| RS760423461 | Health Risk | Likely pathogenic | PCNT-related disorder, PCNT-related disorder |
| RS760664460 | Health Risk | Likely pathogenic | PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II, Melanoma |
| RS770495481 | Health Risk | Likely pathogenic | — |
| RS774148938 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II |
| RS774553297 | Health Risk | Likely pathogenic | — |
| RS778163048 | Health Risk | Likely pathogenic | Inborn genetic diseases, PCNT-related disorder, Inborn genetic diseases |
| RS778234498 | Health Risk | Likely pathogenic | PCNT-related disorder, PCNT-related disorder, PCNT-related disorder |
| RS984142085 | Health Risk | Likely pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS1016587396 | Health Risk | Pathogenic | — |
| RS119479061 | Health Risk | Pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS119479063 | Health Risk | Pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS119479064 | Health Risk | Pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |
| RS1217566598 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1223965579 | Health Risk | Pathogenic | — |
| RS1236066548 | Health Risk | Pathogenic | — |
| RS1260485519 | Health Risk | Pathogenic | — |
| RS1266152010 | Health Risk | Pathogenic | PCNT-related disorder, PCNT-related disorder |
| RS1284309664 | Health Risk | Pathogenic | — |
| RS1290073918 | Health Risk | Pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II |
| RS1314660137 | Health Risk | Pathogenic | — |
| RS1315359733 | Health Risk | Pathogenic | Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II |