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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DICER1
dicer 1, ribonuclease III
Chromosome 14 Β· 14q32.13
NCBI Gene: 23405Ensembl: ENSG00000100697.17HGNC: HGNC:17098UniProt: H0YJZ6
650PubMed Papers
24Diseases
0Drugs
834Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly StudiedTrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RISC complex assemblyRISC-loading complexnegative regulation of gene expressionRISC complexDICER1-related tumor predispositionFamilial multinodular goiterPleuropulmonary blastomagoiter, multinodular 1, with or without Sertoli-Leydig cell tumors
✦AI Summary

DICER1 is a highly conserved RNase III endoribonuclease that plays a central role in microRNA (miRNA) biogenesis and RNA interference 1. The enzyme cleaves long double-stranded RNAs and pre-miRNA hairpins into 21-23 nucleotide fragments, generating mature miRNAs and small interfering RNAs (siRNAs) that regulate post-transcriptional gene silencing of more than half of human protein-coding genes 1. These processed RNAs direct the RNA-induced silencing complex (RISC) to complementary RNA targets for degradation or translational repression, controlling transposon activity and exogenous viral RNA 1. Germline pathogenic DICER1 variants cause DICER1 syndrome, a tumor predisposition syndrome with unusual two-hit genetics where individuals require only haploinsufficiency plus a second somatic missense mutation at specific hotspot codons 1. The syndrome exhibits incomplete penetrance and broad phenotypic heterogeneity, with up to 30 associated neoplastic conditions 2. Most prevalent are pleuropulmonary blastoma, Sertoli-Leydig cell tumors, multinodular goiter, cystic nephroma, and embryonal rhabdomyosarcoma 3. DICER1 hotspot mutations in cancer compromise RNase function, causing both loss of canonical miRNA-5p strands and paradoxical gain-of-function through selective upregulation of miRNA-3p passenger strands with increased Argonaute loading and repression capacity 4. Prevalence of germline DICER1 variants is approximately 1:30 in pediatric cancer predisposition populations, with thyroid alterations being common in adult carriers 5.

Sources cited
1
DICER1 is RNase III endoribonuclease critical for miRNA biogenesis; miRNAs control >50% of human genes; two-hit hypothesis with haploinsufficiency and somatic hotspot mutations
PMID: 33293352
2
DICER1 syndrome associated with up to 30 neoplastic lesions; includes distinct mesenchymal tumor molecular classes
PMID: 36966138
3
Most prevalent DICER1 tumors: pleuropulmonary blastoma, Sertoli-Leydig cell tumor, cystic nephroma, embryonal rhabdomyosarcoma, thyroid nodular disease
PMID: 40231379
4
DICER1 hotspot mutations cause loss of miRNA-5p and gain of miRNA-3p function with increased Argonaute loading
PMID: 41188597
5
Germline DICER1 prevalence ~1:30 in pediatric cancer predisposition; thyroid alterations common in adult carriers
PMID: 39976125
Disease Associationsβ“˜24
DICER1-related tumor predispositionOpen Targets
0.83Strong
Familial multinodular goiterOpen Targets
0.74Strong
Pleuropulmonary blastomaOpen Targets
0.74Strong
goiter, multinodular 1, with or without Sertoli-Leydig cell tumorsOpen Targets
0.74Strong
global developmental delay - lung cysts - overgrowth - Wilms tumor syndromeOpen Targets
0.73Strong
rhabdomyosarcoma, embryonal, 2Open Targets
0.66Moderate
embryonal rhabdomyosarcomaOpen Targets
0.60Moderate
PineoblastomaOpen Targets
0.58Moderate
hereditary neoplastic syndromeOpen Targets
0.57Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
rhabdomyosarcomaOpen Targets
0.42Moderate
melanomaOpen Targets
0.42Moderate
colorectal adenocarcinomaOpen Targets
0.40Moderate
ovarian cancerOpen Targets
0.40Moderate
sarcomaOpen Targets
0.38Weak
Cystic NephromaOpen Targets
0.38Weak
cutaneous melanomaOpen Targets
0.38Weak
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndromeOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
Global developmental delay, lung cysts, overgrowth, and Wilms tumorUniProt
Goiter multinodular 1, with or without Sertoli-Leydig cell tumorsUniProt
Pleuropulmonary blastomaUniProt
Rhabdomyosarcoma, embryonal, 2UniProt
Pathogenic Variants834
NM_177438.3(DICER1):c.2516C>T (p.Ser839Phe)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2026β†’ Residue 839
NM_177438.3(DICER1):c.873_877del (p.Glu292fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2026β†’ Residue 292
NM_177438.3(DICER1):c.2685dup (p.Phe896fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2026β†’ Residue 896
NM_177438.3(DICER1):c.2524del (p.Met842fs)Pathogenic
not provided|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2026β†’ Residue 842
NM_177438.3(DICER1):c.5425G>C (p.Gly1809Arg)Likely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2026β†’ Residue 1809
NM_177438.3(DICER1):c.1509+16A>GLikely pathogenic
not provided|Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.1908-3C>GLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.1752+213A>GLikely pathogenic
DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.5222ACA[1] (p.Asn1742del)Likely pathogenic
not provided|DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 1742
NM_177438.3(DICER1):c.5365-4A>GLikely pathogenic
Pleuropulmonary blastoma|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.734+3A>TLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.1753-9A>GLikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.5135dup (p.Leu1712fs)Likely pathogenic
Euthyroid goiter|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025β†’ Residue 1712
NM_177438.3(DICER1):c.2256+5G>ALikely pathogenic
DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.2523A>G (p.Gln841=)Likely pathogenic
See cases|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025β†’ Residue 841
NM_177438.3(DICER1):c.5527+3A>GLikely pathogenic
Hereditary cancer-predisposing syndrome|Pleuropulmonary blastoma|DICER1-related tumor predisposition
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.2256+5G>CLikely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.2257-7A>GLikely pathogenic
not specified|Hereditary cancer-predisposing syndrome|DICER1-related tumor predisposition|Neoplasm
β˜…β˜…β˜…β˜†2025
NM_177438.3(DICER1):c.1509G>C (p.Glu503Asp)Likely pathogenic
DICER1-related tumor predisposition|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2025β†’ Residue 503
NM_177438.3(DICER1):c.5428G>T (p.Asp1810Tyr)Pathogenic
DICER1-related tumor predisposition|Benign cystic nephroma|Hereditary cancer-predisposing syndrome|Uterine corpus endometrial carcinoma|Thyroid cancer, nonmedullary, 1|Follicular thyroid carcinoma|Embryonal rhabdomyosarcoma|Pleuropulmonary blastoma
β˜…β˜…β˜…β˜†2025β†’ Residue 1810
View on ClinVar β†—
Related Genes
DDX6Protein interaction100%DHX9Protein interaction100%EIF4EProtein interaction100%FMR1Protein interaction100%MOV10Protein interaction100%PCBP2Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
96%
Brain
78%
Bone Marrow
71%
Liver
70%
Heart
68%
Gene Interaction Network
Click a node to explore
DICER1DDX6DHX9EIF4EFMR1MOV10PCBP2
PROTEIN STRUCTURE
Preparing viewer…
PDB4NGD Β· 1.96 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.28Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.21 [0.16–0.28]
RankingsWhere DICER1 stands among ~20K protein-coding genes
  • #342of 20,598
    Most Researched650 Β· top 5%
  • #52of 5,498
    Most Pathogenic Variants834 Β· top 1%
  • #945of 17,882
    Most Constrained (LOEUF)0.28 Β· top 10%
Genes detectedDICER1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
The Histological Spectrum of DICER1-Associated Neoplasms.
PMID: 40231379
Pediatr Dev Pathol Β· 2025
1.00
2
Case 320.
PMID: 37642568
Radiology Β· 2023
0.90
3
PMID: 39283830
Thyroid Β· 2024
0.88
4
MicroRNA and Rare Human Diseases.
PMID: 39457367
Genes (Basel) Β· 2024
0.84
5
Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review.
PMID: 38599636
J Obstet Gynaecol Res Β· 2024
0.82