PCNT
Sign in to saveAlso known as KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4, pericentrin
Gen der Spezies Homo sapiens
Gene data
PCNT- Name
- pericentrin
- Type
- protein-coding
- Position
- 46,324,082–46,445,769 (+)
- Aliases
- KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4
- Ensembl
- ENSG00000160299
- RefSeq RNA
- NM_001315529.2, NM_006031.6
- RefSeq protein
- NP_001302458.1, NP_006022.3
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
pericentrin
- Symbol
- PCNT
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 21:46,324,082-46,445,769
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 86942
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/5116
- genomic end
- 47865682
- genomic start
- 46324141
- chromosome
- human chromosome 21
- cytogenetic location
- 21q22.3
- expressed in
- middle temporal gyrus
via Wikidata · CC0