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DICER1

Chr 14q32.13

dicer 1, ribonuclease III

Aliases:
Dicer, KIAA0928, K12H4.8-LIKE, HERNA
MANE:
ENST00000343455.8

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Adult solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Adult solid tumours for rare disease

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood solid tumours

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Childhood solid tumours cancer susceptibility

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • COVID-19 research

    Unknown
  • DICER1-related cancer predisposition

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Embryonal tumour of possible germline origin

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Inherited non-medullary thyroid cancer

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

  • DICER1-related tumor predisposition

    0.83
  • pleuropulmonary blastoma

    0.76
  • Familial multinodular goiter

    0.76
  • goiter, multinodular 1, with or without Sertoli-Leydig cell tumors

    0.75
  • global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome

    0.73
  • rhabdomyosarcoma, embryonal, 2

    0.69
  • embryonal rhabdomyosarcoma

    0.60
  • pineoblastoma

    0.58
  • Inherited cancer-predisposing syndrome

    0.57
  • hereditary neoplastic syndrome

    0.57

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Endoribonuclease Dicer

Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes

Curated MONDO disease pages that list DICER1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.