Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PCNT Gene

Aliases for PCNT Gene

  • Pericentrin 2 3 3 5
  • Kendrin 2 3 4
  • Pericentrin-B 3 4
  • PCNT2 3 4
  • Pericentrin 2 (Kendrin) 2
  • Seckel Syndrome 4 2
  • Pericentrin-380 3
  • Pericentrin-2 3
  • KIAA0402 4
  • MOPD2 3
  • PCNTB 3
  • PCTN2 3
  • SCKL4 3
  • KEN 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

GeneCards Summary for PCNT Gene

PCNT (Pericentrin) is a Protein Coding gene. Diseases associated with PCNT include Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii and Dwarfism. Among its related pathways are Cell Cycle, Mitotic and Organelle biogenesis and maintenance. Gene Ontology (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

Additional gene information for PCNT Gene

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

Genomics for PCNT Gene

GeneHancer (GH) Regulatory Elements for PCNT Gene

Promoters and enhancers for PCNT Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J046319 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.8 -771 6.7 CLOCK DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC ZNF610 PCNT C21orf58 ENSG00000228137 MCM3AP MCM3AP-AS1 ENSG00000227438 DIP2A SPATC1L YBEY COL6A1
GH21J046252 Enhancer 0.9 ENCODE 12.1 -70.0 -70031 2.2 HDGF PKNOX1 ARNT ZNF766 ATF7 RUNX3 SP3 NCOA1 ZNF592 SREBF1 ENSG00000239415 YBEY MCM3AP-AS1 LSS C21orf58 PCNT ENSG00000223901 FTCD DIP2A DIP2A-IT1
GH21J046348 Enhancer 0.5 dbSUPER 13.5 +30.1 30089 12.1 CTCF ZFHX2 ZNF362 ZNF341 ZNF600 BCL11B YBEY MCM3AP DIP2A SPATC1L PCNT C21orf58 ENSG00000228137 GC21M046580 PIR36884
GH21J046442 Enhancer 0.6 dbSUPER 11.1 +119.3 119344 1.7 STAT1 ZBTB6 BACH1 MAFG ZFHX2 ZNF316 NFE2 MAFK EMSY NFE2L2 S100B DIP2A C21orf58 PCNT SPATC1L MCM3AP-AS1 GC21M046494 RPL18AP2
GH21J046386 Enhancer 0.5 FANTOM5 dbSUPER 12.4 +62.7 62729 0.4 POLR2A SPATC1L YBEY PCNT C21orf58 MCM3AP FTCD PIR36884 GC21M046580
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCNT on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCNT gene promoter:
  • ATF6
  • AREB6
  • STAT5B
  • Roaz
  • POU6F1 (c2)
  • Nkx2-5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a

Genomic Locations for PCNT Gene

Genomic Locations for PCNT Gene
chr21:46,324,100-46,445,769
(GRCh38/hg38)
Size:
121,670 bases
Orientation:
Plus strand
chr21:47,744,036-47,865,682
(GRCh37/hg19)
Size:
121,647 bases
Orientation:
Plus strand

Genomic View for PCNT Gene

Genes around PCNT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCNT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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). Interacts with CEP68 (PubMed:25503564). Interacts with ATF5; the ATF5:PCNT:polyglutamylated tubulin (PGT) tripartite unites the mother centriole and the pericentriolar material (PCM) in the centrosome (PubMed:26213385).
    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

Post-translational modifications for PCNT Gene

  • Cleaved during mitotis which leads to removal of CDK5RAP2 from the centrosome and promotes centriole disengagement and subsequent centriole separation (PubMed:22722493, PubMed:25503564). The C-terminal fragment is rapidly degraded following cleavage (PubMed:22722493).
  • Ubiquitination at isoforms=23057, isoforms=22944, Lys2932, Lys788, and Lys505
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PCNT Gene

Domains & Families for PCNT Gene

Gene Families for PCNT Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

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 :
  • Composed of a coiled-coil central region flanked by non-helical N- and C-terminals.
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

Function for PCNT Gene

Molecular function for PCNT Gene

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.
GENATLAS Biochemistry:
murine pericentrin homolog (integral component of the filamentous matrix of the centrosome),>100kDa

Phenotypes From GWAS Catalog for PCNT Gene

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 --
GO:0032947 protein-containing complex scaffold activity IEA --
genes like me logo Genes that share ontologies with PCNT: view
genes like me logo Genes that share phenotypes with PCNT: view

Human Phenotype Ontology for PCNT Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCNT

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCNT gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA 18955030
GO:0005814 centriole IDA 24421332
GO:0005815 microtubule organizing center IEA,IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PCNT: view

Pathways & Interactions for PCNT Gene

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

SIGNOR curated interactions for PCNT Gene

Is activated by:

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:0007052 mitotic spindle organization IMP 25220058
GO:0007165 signal transduction IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle TAS --
genes like me logo Genes that share ontologies with PCNT: view

Drugs & Compounds for PCNT Gene

(1) Drugs for PCNT Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PCNT Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PCNT: view

Transcripts for PCNT Gene

Unigene Clusters for PCNT Gene

Pericentrin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCNT

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x16.3).

Protein differential expression in normal tissues from HIPED for PCNT Gene

This gene is overexpressed in Uterus (22.9), Cervix (12.9), Lung (7.9), and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCNT Gene



NURSA nuclear receptor signaling pathways regulating expression of PCNT Gene:

PCNT

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.

Evidence on tissue expression from TISSUES for PCNT Gene

  • Nervous system(4.6)
  • Liver(4.2)
  • Muscle(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCNT Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • urethra
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PCNT: view

No data available for Protein tissue co-expression partners for PCNT Gene

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 34 33
  • 98.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PCNT 34 33
  • 73.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PCNT 34 33
  • 72.58 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcnt 33
  • 70.97 (n)
mouse
(Mus musculus)
Mammalia Pcnt 34
  • 61 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PCNT 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCNT 34
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCNT 34 33
  • 54.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCNT 34
  • 34 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii pcnt 34
  • 22 (a)
OneToOne
Species where no ortholog for PCNT was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PCNT: view image

Paralogs for PCNT Gene

Paralogs for PCNT Gene

(1) SIMAP similar genes for PCNT Gene using alignment to 3 proteins:

  • PCNT_HUMAN
  • H7C2A3_HUMAN
  • Q8IWJ7_HUMAN

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 Variation AA Info Type
rs10222116 likely-benign, not specified, Microcephalic Osteodysplastic Primordial Dwarfism 46,413,003(+) G/A/C intron_variant
rs1023160 benign, not specified, Microcephalic Osteodysplastic Primordial Dwarfism 46,430,241(+) G/C intron_variant
rs1044998 benign, not specified, Microcephalic Osteodysplastic Primordial Dwarfism 46,416,481(+) T/G coding_sequence_variant, missense_variant
rs111389121 uncertain-significance, likely-benign, Microcephalic Osteodysplastic Primordial Dwarfism, not specified 46,444,803(+) T/C coding_sequence_variant, synonymous_variant
rs111737555 uncertain-significance, Microcephalic Osteodysplastic Primordial Dwarfism, Microcephalic osteodysplastic primordial dwarfism type 2, not specified 46,334,574(+) A/G/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
dgv2417n106 CNV deletion 24896259
dgv7930n54 CNV loss 21841781
dgv7931n54 CNV loss 21841781
dgv7932n54 CNV loss 21841781
esv1006886 CNV deletion 20482838
esv1965087 CNV deletion 18987734
esv2014405 CNV deletion 18987734
esv2292596 CNV deletion 18987734
esv23138 CNV gain 19812545
esv2518438 CNV insertion 19546169
esv26585 CNV loss 19812545
esv2673664 CNV deletion 23128226
esv3042679 CNV deletion 24192839
esv3332372 CNV duplication 20981092
esv3349572 CNV duplication 20981092
esv3557871 CNV deletion 23714750
esv3557874 CNV deletion 23714750
esv3647166 CNV loss 21293372
esv3647168 CNV loss 21293372
esv4867 CNV loss 18987735
esv991505 OTHER inversion 20482838
nsv1060978 CNV gain 25217958
nsv1072193 CNV deletion 25765185
nsv1072613 CNV deletion 25765185
nsv1112369 CNV deletion 24896259
nsv1112370 CNV deletion 24896259
nsv1119717 CNV deletion 24896259
nsv1129683 CNV tandem duplication 24896259
nsv1133693 CNV deletion 24896259
nsv1139039 CNV deletion 24896259
nsv1139040 CNV deletion 24896259
nsv1147712 CNV deletion 26484159
nsv433176 CNV loss 18776910
nsv459312 CNV gain 19166990
nsv470910 CNV gain 18288195
nsv513581 CNV insertion 21212237
nsv515801 CNV loss 19592680
nsv519904 CNV loss 19592680
nsv527355 CNV gain 19592680
nsv587975 CNV gain 21841781
nsv587981 CNV loss 21841781
nsv587982 CNV loss 21841781
nsv587993 CNV loss 21841781
nsv587994 CNV loss 21841781
nsv587995 CNV gain 21841781
nsv587996 CNV loss 21841781
nsv587997 CNV loss 21841781
nsv587998 CNV gain 21841781
nsv819608 CNV gain 19587683
nsv821371 CNV deletion 20802225
nsv953659 CNV deletion 24416366
nsv953660 CNV deletion 24416366
nsv954285 CNV deletion 24416366

Variation tolerance for PCNT Gene

Residual Variation Intolerance Score: 99.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.05; 99.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCNT Gene

Human Gene Mutation Database (HGMD)
PCNT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCNT

SNP Genotyping and Copy Number Assay Products

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

Disorders for PCNT Gene

MalaCards: The human disease database

(14) MalaCards diseases for PCNT Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PCNT in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for PCNT

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PCNT: view

No data available for Genatlas for PCNT Gene

Publications for PCNT Gene

  1. Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder. (PMID: 19191256) Anitha A … Mori N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 22 44 58
  2. Positive association of the pericentrin (PCNT) gene with major depressive disorder in the Japanese population. (PMID: 19448849) Numata S … Ohmori T (Journal of psychiatry & neuroscience : JPN 2009) 3 22 44 58
  3. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. (PMID: 18157127) Griffith E … O'Driscoll M (Nature genetics 2008) 3 4 22 58
  4. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. (PMID: 18174396) Rauch A … Reis A (Science (New York, N.Y.) 2008) 3 4 22 58
  5. Gene and expression analyses reveal enhanced expression of pericentrin 2 (PCNT2) in bipolar disorder. (PMID: 17884020) Anitha A … Mori N (Biological psychiatry 2008) 3 22 44 58

Products for PCNT Gene

Sources for PCNT Gene

Content
Loading form....