AutismKB 2.0

Annotation Details for REC8


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Basic Information Top
Gene Symbol:REC8 ( HR21spB,MGC950,REC8L1,Rec8p )
Gene Full Name: REC8 homolog (yeast)
Band: 14q12
Quick LinksEntrez ID:9985; OMIM: 608193; Uniprot ID:REC8_HUMAN; ENSEMBL ID: ENSG00000100918; HGNC ID: 16879
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000778IEA-condensed nuclear chromosome kinetochore-
GO:0000798IBA-nuclear cohesin complex-
GO:0000800IEA-lateral element-
GO:0001673IEA-male germ cell nucleus-
GO:0005634TAS-nucleus10207075
GO:0030893IBA-meiotic cohesin complex-
GO:0034991IEA-nuclear meiotic cohesin complex-
GO ID Evidence Qualifier GO_term References
GO:0003682IBA-chromatin binding-
GO ID Evidence Qualifier GO_term References
GO:0000724IEA-double-strand break repair via homologous recombination-
GO:0001556IEA-oocyte maturation-
GO:0006302IBA-double-strand break repair-
GO:0007062TAS-sister chromatid cohesion10207075
GO:0007130IEA-synaptonemal complex assembly-
GO:0007131TAS-reciprocal meiotic recombination10207075
GO:0007141IEA-male meiosis I-
GO:0007283TAS-spermatogenesis10207075
GO:0007286IEA-spermatid development-
GO:0009566IEA-fertilization-
GO:0051321TAS-meiotic cell cycle10207075
GO:0072520IEA-seminiferous tubule development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
REC8SMC1A11530612759374 Affinity Capture-Western
REC8SMC1A11387112759374 Affinity Capture-Western
REC8SMC311530612759374 Affinity Capture-Western
REC8SMC311457412759374 Affinity Capture-Western
SYCP3REC811908112759374 Affinity Capture-Western
SYCP3REC811530612759374 Affinity Capture-Western
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1929645
  • 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


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