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Protein Coding Gene : Pcnt pericentrin (kendrin)

Primary Identifier  MGI:102722 Organism  mouse, laboratory
Chromosome  10 NCBI Gene Number  18541
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0)

Predicted to enable calmodulin binding activity and molecular adaptor activity. Acts upstream of or within several processes, including embryonic organ development; mitotic spindle organization; and nervous system development. Located in several cellular components, including cis-Golgi network; intercellular bridge; and microtubule organizing center. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; respiratory system; and sensory organ. Used to study microcephalic osteodysplastic primordial dwarfism type II. Human ortholog(s) of this gene implicated in microcephalic osteodysplastic primordial dwarfism type II. Orthologous to human PCNT (pericentrin).
PHENOTYPE: 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. [provided by MGI curators]
  • synonyms:
  • mKIAA0402,
  • Pcnt2,
  • m239Asp,
  • pericentrin 2,
  • mutation 239, Andrew S Peterson,
  • mutation 275, Andrew S Peterson,
  • pericentrin (kendrin),
  • C86676,
  • Pcnt,
  • m275Asp,
  • pericentrin,
  • expressed sequence AW476095,
  • MGI:3799283,
  • MGD-MRK-19626,
  • MGI:2143839,
  • AW476095,
  • MGI:3799287,
  • MGI:2143946,
  • expressed sequence C86676

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

5 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

20 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For