AutismKB 2.0

Annotation Details for POLR2K


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Basic Information Top
Gene Symbol:POLR2K ( ABC10-alpha,RPABC4,RPB10alpha,RPB12,RPB7.0,hRPB7.0,hsRPB10a )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa
Band: 8q22.2
Quick LinksEntrez ID:5440; OMIM: 606033; Uniprot ID:RPAB4_HUMAN; ENSEMBL ID: ENSG00000147669; HGNC ID: 9198
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus9852112
GO:0005654TAS-nucleoplasm-
GO:0005665IDA-DNA-directed RNA polymerase II, core complex9852112
GO:0005666IBA-DNA-directed RNA polymerase III complex-
GO:0005736IBA-DNA-directed RNA polymerase I complex-
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0001054IBAcontributes_toRNA polymerase I activity-
GO:0001055IBAcontributes_toRNA polymerase II activity-
GO:0001056IBAcontributes_toRNA polymerase III activity-
GO:0003677IEA-DNA binding-
GO:0008270TAS-zinc ion binding7651387
GO ID Evidence Qualifier GO_term References
GO:0000398TAS-mRNA splicing, via spliceosome-
GO:0006283TAS-transcription-coupled nucleotide-excision repair-
GO:0006351TAS-transcription, DNA-templated-
GO:0006356TAS-regulation of transcription from RNA polymerase I promoter7651387
GO:0006361TAS-transcription initiation from RNA polymerase I promoter-
GO:0006362TAS-transcription elongation from RNA polymerase I promoter-
GO:0006363TAS-termination of RNA polymerase I transcription-
GO:0006366IDA-transcription from RNA polymerase II promoter9852112
GO:0006366TAS-transcription from RNA polymerase II promoter-
GO:0006367TAS-transcription initiation from RNA polymerase II promoter-
GO:0006368TAS-transcription elongation from RNA polymerase II promoter-
GO:0006370TAS-7-methylguanosine mRNA capping-
GO:0006383TAS-transcription from RNA polymerase III promoter7651387
GO:0008543TAS-fibroblast growth factor receptor signaling pathway-
GO:0016070TAS-RNA metabolic process-
GO:0032481TAS-positive regulation of type I interferon production-
GO:0035019TAS-somatic stem cell population maintenance-
GO:0042795TAS-snRNA transcription from RNA polymerase II promoter-
GO:0045815TAS-positive regulation of gene expression, epigenetic-
GO:0050434TAS-positive regulation of viral transcription-
GO:0060964TAS-regulation of gene silencing by miRNA-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
POLR2KPOLR2A1114369201987 Reconstituted Complex
POLR2KPOLR2A1114269201987 Reconstituted Complex
POLR2KPOLR2B1114279201987 Reconstituted Complex
POLR2KPOLR2B1114369201987 Reconstituted Complex
POLR2KPOLR2C1114289201987 Reconstituted Complex
POLR2KPOLR2C1114369201987 Reconstituted Complex
POLR2KPOLR2E1114309201987 Reconstituted Complex
POLR2KPOLR2E1114369201987 Reconstituted Complex
POLR2KPOLR2F1114369201987 Reconstituted Complex
POLR2KPOLR2F1114319201987 Reconstituted Complex
POLR2KPOLR2G1114329201987 Reconstituted Complex
POLR2KPOLR2G1114369201987 Reconstituted Complex
POLR2KPOLR2H1114369201987 Reconstituted Complex
POLR2KPOLR2H1114339201987 Reconstituted Complex
POLR2KPOLR2J1114369201987 Reconstituted Complex
POLR2KPOLR2J1114359201987 Reconstituted Complex
POLR2KPOLR2K1114369201987 Reconstituted Complex
MED10POLR2K12397415175163 Affinity Capture-MS
MED10POLR2K11143615175163 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:102725
  • Data Attributes: 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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