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Aliases for PCNT Gene

Aliases for PCNT Gene

  • Pericentrin 2 3
  • Kendrin 2 3 4
  • PCNT2 3 4 6
  • Pericentrin-B 3 4
  • MOPD2 3 6
  • SCKL4 3 6
  • KEN 3 6
  • Pericentrin 2 (Kendrin) 2
  • Seckel Syndrome 4 2
  • Pericentrin-380 3
  • Pericentrin-2 3
  • KIAA0402 4
  • PCNTB 3
  • PCTN2 3
  • PCN 3

External Ids for PCNT Gene

Previous HGNC Symbols for PCNT Gene

  • PCNT2

Previous GeneCards Identifiers for PCNT Gene

  • GC21P046569
  • GC21P047744
  • GC21P033126

Summaries for PCNT Gene

Entrez Gene Summary for PCNT Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCNT Gene

PCNT (Pericentrin) is a Protein Coding gene. Diseases associated with PCNT include microcephalic osteodysplastic primordial dwarfism, type ii and seckel syndrome 4. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include calmodulin binding. An important paralog of this gene is AKAP9.

UniProtKB/Swiss-Prot for PCNT Gene

  • Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.

Gene Wiki entry for PCNT Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCNT Gene

Genomics for PCNT Gene

Regulatory Elements for PCNT Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for PCNT Gene

Start:
46,324,070 bp from pter
End:
46,445,769 bp from pter
Size:
121,700 bases
Orientation:
Plus strand

Genomic View for PCNT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PCNT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCNT Gene

Proteins for PCNT Gene

  • Protein details for PCNT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95613-PCNT_HUMAN
    Recommended name:
    Pericentrin
    Protein Accession:
    O95613
    Secondary Accessions:
    • O43152
    • Q7Z7C9

    Protein attributes for PCNT Gene

    Size:
    3336 amino acids
    Molecular mass:
    378037 Da
    Quaternary structure:
    • Interacts with CHD3. Interacts with CHD4; the interaction regulates centrosome integrity (By similarity). Interacts with DISC1 and PCM1. Binds calmodulin. Interacts with CDK5RAP2; the interaction is leading to centrosomal localization of PCNT and CDK5RAP2. Interacts with isoform 1 of NEK2. Interacts with CEP131. Interacts with CCDC13 (PubMed:24816561).
    SequenceCaution:
    • Sequence=AAD10838.1; Type=Frameshift; Positions=3320; Evidence={ECO:0000305}; Sequence=BAA23698.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=BAC04252.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PCNT Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCNT Gene

Proteomics data for PCNT Gene at MOPED

Post-translational modifications for PCNT Gene

  • Ubiquitination at Lys505, Lys788, Lys2932, Lys2944, and Lys3057
  • Modification sites at PhosphoSitePlus

Other Protein References for PCNT Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for PCNT Gene

Domains for PCNT Gene

Protein Domains for PCNT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PCNT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O95613

UniProtKB/Swiss-Prot:

PCNT_HUMAN :
  • O95613
Domain:
  • Composed of a coiled-coil central region flanked by non-helical N- and C-terminals
genes like me logo Genes that share domains with PCNT: view

No data available for Gene Families for PCNT Gene

Function for PCNT Gene

Molecular function for PCNT Gene

GENATLAS Biochemistry: murine pericentrin homolog (integral component of the filamentous matrix of the centrosome),>100kDa
UniProtKB/Swiss-Prot Function: Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an integral component of the pericentriolar material (PCM). May play an important role in preventing premature centrosome splitting during interphase by inhibiting NEK2 kinase activity at the centrosome.

Gene Ontology (GO) - Molecular Function for PCNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12812986
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with PCNT: view
genes like me logo Genes that share phenotypes with PCNT: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for PCNT Gene

Localization for PCNT Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCNT Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Centrosomal at all stages of the cell cycle. Remains associated with centrosomes following microtubule depolymerization. Colocalized with DISC1 at the centrosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCNT Gene COMPARTMENTS Subcellular localization image for PCNT gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3
extracellular 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PCNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000242 pericentriolar material IEA --
GO:0005737 cytoplasm IDA --
GO:0005813 centrosome IDA --
GO:0005814 centriole IDA 24421332
GO:0005815 microtubule organizing center --
genes like me logo Genes that share ontologies with PCNT: view

Pathways for PCNT Gene

genes like me logo Genes that share pathways with PCNT: view

Gene Ontology (GO) - Biological Process for PCNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle TAS --
GO:0000226 microtubule cytoskeleton organization IMP 18955030
GO:0000278 mitotic cell cycle TAS --
GO:0001701 in utero embryonic development IEA --
GO:0001764 neuron migration IEA --
genes like me logo Genes that share ontologies with PCNT: view

Compounds for PCNT Gene

(2) Novoseek inferred chemical compound relationships for PCNT Gene

Compound -log(P) Hits PubMed IDs
nocodazole 60.3 1
aspartate 0 1
genes like me logo Genes that share compounds with PCNT: view

Transcripts for PCNT Gene

Unigene Clusters for PCNT Gene

Pericentrin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PCNT

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for PCNT

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCNT Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5:
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

ExUns: 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c · 31d ^ 32a · 32b · 32c ^ 33 ^ 34 ^ 35 ^ 36a ·
SP1: - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19:

ExUns: 36b · 36c ^ 37 ^ 38 ^ 39a · 39b ^ 40 ^ 41 ^ 42 ^ 43a · 43b · 43c · 43d ^ 44a · 44b ^ 45 ^ 46a · 46b ^ 47 ^ 48a · 48b · 48c ^ 49a · 49b ^ 50 ^ 51a ·
SP1: - - - - - - -
SP2:
SP3:
SP4: - - - -
SP5: - - - -
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11: - - -
SP12:
SP13:
SP14:
SP15: -
SP16:
SP17:
SP18:
SP19:

ExUns: 51b ^ 52a · 52b · 52c ·
SP1:
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:
SP19:

Relevant External Links for PCNT Gene

GeneLoc Exon Structure for
PCNT
ECgene alternative splicing isoforms for
PCNT

Expression for PCNT Gene

mRNA expression in normal human tissues for PCNT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PCNT Gene

This gene is overexpressed in Muscle - Skeletal (16.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PCNT Gene

SOURCE GeneReport for Unigene cluster for PCNT Gene Hs.474069

mRNA Expression by UniProt/SwissProt for PCNT Gene

O95613-PCNT_HUMAN
Tissue specificity: Expressed in all tissues tested, including placenta, liver, kidney and thymus.
genes like me logo Genes that share expressions with PCNT: view

In Situ Assay Products

Orthologs for PCNT Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCNT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCNT 35
  • 98.68 (n)
  • 97.92 (a)
PCNT 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PCNT 35
  • 72.58 (n)
  • 63.4 (a)
PCNT 36
  • 61 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCNT 35
  • 73.7 (n)
  • 64.09 (a)
PCNT 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcnt 16
Pcnt 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCNT 36
  • 32 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCNT 36
  • 45 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcnt 35
  • 70.97 (n)
  • 62.93 (a)
chicken
(Gallus gallus)
Aves PCNT 35
  • 54.4 (n)
  • 43.58 (a)
PCNT 36
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCNT 36
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pcnt 36
  • 22 (a)
OneToOne
Species with no ortholog for PCNT:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCNT Gene

ENSEMBL:
Gene Tree for PCNT (if available)
TreeFam:
Gene Tree for PCNT (if available)

Paralogs for PCNT Gene

Paralogs for PCNT Gene

Selected SIMAP similar genes for PCNT Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for PCNT Gene

genes like me logo Genes that share paralogs with PCNT: view

Variants for PCNT Gene

Sequence variations from dbSNP and Humsavar for PCNT Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs734699 -- 46,331,574(+) CAACG(G/T)GGGAG intron-variant
rs743343 -- 46,424,350(-) GGCGG(C/G)TCTGC intron-variant
rs743344 -- 46,424,518(-) CTTCC(C/G)GCCAG intron-variant
rs743346 Benign, - 46,431,722(-) AGGTG(C/T)GGCTC missense, reference
rs743347 -- 46,444,543(+) GATCT(A/G)AAGGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCNT Gene

Variant ID Type Subtype PubMed ID
nsv470910 CNV Gain 18288195
nsv519904 CNV Loss 19592680
nsv527355 CNV Gain 19592680
nsv914135 CNV Loss 21882294
dgv4817n71 CNV Loss 21882294
nsv914139 CNV Gain 21882294
nsv914141 CNV Loss 21882294
nsv914142 CNV Loss 21882294
esv2673664 CNV Deletion 23128226
esv991505 OTHER Inversion 20482838
dgv4818n71 CNV Loss 21882294
esv1006886 CNV Deletion 20482838
nsv433176 CNV Loss 18776910
esv23138 CNV Gain 19812545
nsv821371 CNV Deletion 20802225
esv1965087 CNV Deletion 18987734
nsv513581 CNV Insertion 21212237
esv2518438 CNV Insertion 19546169
esv26585 CNV Loss 19812545
esv4867 CNV Deletion 18987735
esv2292596 CNV Deletion 18987734
nsv515801 CNV Loss 19592680
nsv819608 CNV Gain 19587683
nsv914146 CNV Loss 21882294
nsv459312 CNV Gain 19166990
esv2014405 CNV Deletion 18987734

Relevant External Links for PCNT Gene

HapMap Linkage Disequilibrium report
PCNT
Human Gene Mutation Database (HGMD)
PCNT
Locus Specific Mutation Databases (LSDB)
PCNT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCNT Gene

Disorders for PCNT Gene

(1) OMIM Diseases for PCNT Gene (605925)

UniProtKB/Swiss-Prot

PCNT_HUMAN
  • Microcephalic osteodysplastic primordial dwarfism 2 (MOPD2) [MIM:210720]: Adults with this rare inherited condition have an average height of 100 centimeters and a brain size comparable to that of a 3-month-old baby, but are of near-normal intelligence. {ECO:0000269 PubMed:18157127, ECO:0000269 PubMed:18174396}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for PCNT Gene

(11) Novoseek inferred disease relationships for PCNT Gene

Disease -log(P) Hits PubMed IDs
bipolar disorder 32 8
schizophrenia 16.5 10
chromosomal aberrations 8.28 1
genetic disorder 4.32 1
breast carcinoma 0 2

Relevant External Links for PCNT

Genetic Association Database (GAD)
PCNT
Human Genome Epidemiology (HuGE) Navigator
PCNT
genes like me logo Genes that share disorders with PCNT: view

Publications for PCNT Gene

  1. Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter. (PMID: 8812505) Chen H. … Antonarakis S.E. (Genomics 1996) 2 3 23
  2. Identification of a human centrosomal calmodulin-binding protein that shares homology with pericentrin. (PMID: 10823944) Flory M.R. … Davis T.N. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  3. Kendrin/pericentrin-B, a centrosome protein with homology to pericentrin that complexes with PCM-1. (PMID: 11171385) Li Q. … Balczon R. (J. Cell Sci. 2001) 3 4 23
  4. Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder. (PMID: 17884020) Anitha A. … Mori N. (Biol. Psychiatry 2008) 3 23 48
  5. Mutations in pericentrin cause Seckel syndrome with defective ATR- dependent DNA damage signaling. (PMID: 18157127) Griffith E. … O'Driscoll M. (Nat. Genet. 2008) 3 4 23

Products for PCNT Gene

Sources for PCNT Gene

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