AutismKB 2.0

Annotation Details for PCNT


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Basic Information Top
Gene Symbol:PCNT ( KEN,MOPD2,PCN,PCNT2,PCNTB,PCTN2,SCKL4 )
Gene Full Name: pericentrin
Band: 21q22.3
Quick LinksEntrez ID:5116; OMIM: 605925; Uniprot ID:PCNT_HUMAN; ENSEMBL ID: ENSG00000160299; HGNC ID: 16068
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005813IDA-centrosome18955030
GO:0005814IDA-centriole24421332
GO:0005815IDA-microtubule organizing center-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0005874IEA-microtubule-
GO:0016020IDA-membrane19946888
GO:0034451IDA-centriolar satellite22797915
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12812986
GO:0005516IEA-calmodulin binding-
GO ID Evidence Qualifier GO_term References
GO:0000086TAS-G2/M transition of mitotic cell cycle-
GO:0000226IMP-microtubule cytoskeleton organization18955030
GO:0007052IMP-mitotic spindle organization25220058
GO:0060271IDA-cilium assembly15337773
GO:0090316IMP-positive regulation of intracellular protein transport22797915
GO:0097711TAS-ciliary basal body docking-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
PCNTCALM111114610823944 Reconstituted Complex
PCNTCALM110725210823944 Reconstituted Complex
PCNTCHD311114617626165 Affinity Capture-Western; Two-hybrid
PCNTCHD310753217626165 Affinity Capture-Western; Two-hybrid
PCNTCHD411114617626165 Affinity Capture-Western; Two-hybrid
PCNTCHD410753317626165 Affinity Capture-Western; Two-hybrid
PCNTPCM111114611171385 Affinity Capture-Western
PCNTPCM111113911171385 Affinity Capture-Western
DYNC1LI1PCNT11114610893222 Affinity Capture-Western
DYNC1LI1PCNT11932710893222 Affinity Capture-Western
TUBGCP3PCNT11114612221128 Affinity Capture-Western
TUBGCP3PCNT11569512221128 Affinity Capture-Western
TUBGCP2PCNT11114612221128 Affinity Capture-Western
TUBGCP2PCNT11605512221128 Affinity Capture-Western
MBD3PCNT11114617626165 Affinity Capture-Western
MBD3PCNT11978817626165 Affinity Capture-Western
RBBP7PCNT11114617626165 Affinity Capture-Western
RBBP7PCNT11186617626165 Affinity Capture-Western
MTA2PCNT11114617626165 Affinity Capture-Western
MTA2PCNT11465217626165 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
PCNTrs1010111, rs11701058, rs11701361, rs11702684, rs13373028, rs1543756, rs2051190, rs2070426, rs2073376, rs2073378, rs2073380, rs2073382, rs2186350, rs2249057, rs2268522, rs2268524, rs2839212, rs2839215, rs2839222, rs2839224, rs2839226, rs2839231, rs2839243, rs2839251, rs2839252, rs3788265, rs6518289, rs6518291, rs743347, rs762250, rs915578, rs9981892 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:102722
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018