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Pcnt Gene Detail
Summary
  • Symbol
    Pcnt
  • Name
    pericentrin (kendrin)
  • Synonyms
    m239Asp, m275Asp, mKIAA0402, Pcnt2
  • Feature Type
    protein coding gene
  • IDs
    MGI:102722
    NCBI Gene: 18541
  • Gene Overview
    MyGene.info: PCNT
Location & Maps
more
  • Sequence Map
    Chr10:76351254-76442912 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      91659 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 38.80 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    PCNT, pericentrin
  • Human Ortholog
    PCNT, pericentrin
    Orthology source: HGNC
  • Synonyms
    KEN, MOPD2, PCN, PCNT2, PCNTB, PCTN2, SCKL4
  • Links
    NCBI Gene ID: 5116
    neXtProt AC: NX_O95613

  • Chr Location
    21q22.3; chr21:46324100-46445769 (+)  GRCh38.p2

  • HCOP
    human homology predictions: PCNT
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Pcnt mouse models; 1 with human PCNT associations

Human Disease Mouse Models
       Microcephalic Osteodysplastic Primordial Dwarfism, Type II; MOPD2   OMIM: 210720 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 3 alleles in 2 genetic backgrounds
    9 phenotypes from multigenic genotypes
    28 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    85
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Gene trapped
    75
  • Targeted
    7
  • Genomic Mutations
    5 involving Pcnt
  • Incidental Mutations
Mice homozygous for a gene trapped allele display mitotic spindle misorientation, microcephaly, craniofacial developmental anomalies, such as cleft palate and eye defects, variable structural kidney and cardiovascular defects, and altered hemodynamics leading to heart failure and prenatal lethality.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000001151 Ensembl Gene Model | MGI Sequence Detail 91659 C57BL/6J ±  kb
transcript ENSMUST00000001179 Ensembl | MGI Sequence Detail 9530 Not Applicable  
polypeptide ENSMUSP00000001179 Ensembl | MGI Sequence Detail 2916 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    151 from dbSNP Build 142
Protein
Information
less
  • UniProt
    9 Sequences
  • Protein Ontology
    PR:000012423 pericentrin
  • InterPro Domains
    IPR024151 Pericentrin
    IPR019528 Pericentrin/AKAP-450 centrosomal targeting domain
Molecular
Reagents
less
  • All nucleic 149
    Genomic 3
    cDNA 143
    Primer pair 2
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-19626, MGI:2143839, MGI:2143946, MGI:3799283, MGI:3799287
References
more
  • Summaries
    All 106
    Developmental Gene Expression 51
    Diseases 3
    Gene Ontology 21
    Phenotypes 28
  • Earliest
    J:17138 Doxsey SJ, et al., Pericentrin, a highly conserved centrosome protein involved in microtubule organization [see comments]. Cell. 1994 Feb 25;76(4):639-50
  • Latest
    J:230806 Arbi M, et al., GemC1 controls multiciliogenesis in the airway epithelium. EMBO Rep. 2016 Mar;17(3):400-13

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/15/2016
MGI 6.04
The Jackson Laboratory