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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RTEL1
regulator of telomere elongation helicase 1
Chromosome 20 Β· 20q13.33
NCBI Gene: 51750Ensembl: ENSG00000258366.13HGNC: HGNC:15888UniProt: Q9NZ71
119PubMed Papers
23Diseases
0Drugs
286Pathogenic Variants
FUNCTIONAL ROLE
DNA Repair
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingnegative regulation of t-circle formationnucleusnucleoplasmdyskeratosis congenita, autosomal recessive 5dyskeratosis congenitapulmonary fibrosis and/or bone marrow failure, Telomere-related, 3idiopathic pulmonary fibrosis
✦AI Summary

RTEL1 is an ATP-dependent DNA helicase essential for maintaining telomere integrity and genomic stability 1. Primary functions include disassembling telomeric loop (T-loop) structures and resolving G4-DNA/R-loop complexes to prevent telomere fragility 2. RTEL1 acts as an anti-recombinase during meiosis, promoting noncrossover DNA repair through strand displacement and D-loop disassembly, thereby regulating crossover homeostasis 3. Beyond telomeres, RTEL1 resolves R-loops genome-wide to prevent transcription-replication collisions (TRCs), which are critical for maintaining global transcriptional and replicative fidelity 2. RTEL1 dysfunction associates with telomeropathies including dyskeratosis congenita (autosomal dominant and recessive forms) and telomere-related pulmonary fibrosis/bone marrow failure 4. Rare genetic variants in RTEL1 influence telomere length in the general population and associate with multiple malignancies including lung cancer 56, neuroblastoma 7, and familial breast cancer 8. The clinical significance of RTEL1 extends beyond inherited telomere disorders to understanding cancer predisposition and aging-associated pathologies, making it a potential target for therapeutic intervention in telomere biology diseases 1.

Sources cited
1
RTEL1 is a DNA helicase important for telomeres and genome integrity with diverse cellular functions
PMID: 37532653
2
RTEL1 unwinds G4-DNA/R-loops to prevent transcription-replication collisions and maintains global replication fidelity
PMID: 33357438
3
RTEL1 is a helicase that resolves R-loops and plays roles in telomere maintenance and DNA repair
PMID: 37778731
4
RTEL1 mutations cause telomeropathies including dyskeratosis congenita and bone marrow failure
PMID: 29146883
5
Rare RTEL1 variants are significantly associated with telomere length in large population studies
PMID: 39192095
6
RTEL1 is identified as a telomere-related gene associated with lung cancer susceptibility
PMID: 28604730
7
RTEL1 SNPs confer increased neuroblastoma risk in a gender- and site-specific manner
PMID: 38001404
8
RTEL1 variants are associated with familial breast cancer susceptibility
PMID: 30303537
Disease Associationsβ“˜23
dyskeratosis congenita, autosomal recessive 5Open Targets
0.84Strong
dyskeratosis congenitaOpen Targets
0.81Strong
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3Open Targets
0.81Strong
idiopathic pulmonary fibrosisOpen Targets
0.73Strong
pulmonary fibrosisOpen Targets
0.55Moderate
pulmonary fibrosis and/or bone marrow failure, telomere-relatedOpen Targets
0.50Moderate
Hoyeraal-Hreidarsson syndromeOpen Targets
0.46Moderate
minimally differentiated acute myeloblastic leukemiaOpen Targets
0.46Moderate
telomere syndromeOpen Targets
0.45Moderate
dyskeratosis congenita, X-linkedOpen Targets
0.42Moderate
acute myeloid leukemiaOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
Abnormality of blood and blood-forming tissuesOpen Targets
0.34Weak
Adams-Oliver syndromeOpen Targets
0.34Weak
dyskeratosis congenita, autosomal recessive 1Open Targets
0.30Weak
gliomaOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.28Weak
action myoclonus-renal failure syndromeOpen Targets
0.27Weak
Combined oxidative phosphorylation defect type 24Open Targets
0.27Weak
mitochondrial oxidative phosphorylation disorderOpen Targets
0.27Weak
Dyskeratosis congenita, autosomal dominant, 4UniProt
Dyskeratosis congenita, autosomal recessive, 5UniProt
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 3UniProt
Pathogenic Variants286
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Interstitial lung disease 2|not provided|Dyskeratosis congenita|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5|See cases|Inborn genetic diseases|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 1264
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Interstitial lung disease 2|Dyskeratosis congenita|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5|not provided|Pulmonary fibrosis|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 974
NM_001283009.2(RTEL1):c.2260C>T (p.Arg754Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2026β†’ Residue 754
NM_001283009.2(RTEL1):c.2635del (p.Arg879fs)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2026β†’ Residue 879
NM_001283009.2(RTEL1):c.3610C>T (p.Gln1204Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2026β†’ Residue 1204
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 492
NM_001283009.2(RTEL1):c.396-26C>TPathogenic
not provided|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.102+2T>CPathogenic
Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.190C>T (p.Arg64Ter)Pathogenic
not provided|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025β†’ Residue 64
NM_001283009.2(RTEL1):c.3040C>T (p.Gln1014Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025β†’ Residue 1014
NM_001283009.2(RTEL1):c.478-2A>GLikely pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.3109+1G>CPathogenic
not provided|Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.3110-2A>TPathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.2940_2956del (p.Glu981fs)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3;Dyskeratosis congenita, autosomal recessive 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 981
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)Pathogenic
Dyskeratosis congenita, autosomal dominant 4|not provided|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Pulmonary fibrosis|RTEL1-related disorder|Adams-Oliver syndrome 3
β˜…β˜…β˜†β˜†2025β†’ Residue 986
NM_001283009.2(RTEL1):c.2614C>T (p.Arg872Ter)Pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|RTEL1-related disorder|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025β†’ Residue 872
NM_001283009.2(RTEL1):c.1135+1G>APathogenic
Dyskeratosis congenita|Acute myeloid leukemia|Pulmonary fibrosis|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.1482-1G>APathogenic
Interstitial lung disease 2|Dyskeratosis congenita|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.1037+1G>TLikely pathogenic
Dyskeratosis congenita, autosomal recessive 5|Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3|Dyskeratosis congenita
β˜…β˜…β˜†β˜†2025
NM_001283009.2(RTEL1):c.320del (p.Pro107fs)Likely pathogenic
Dyskeratosis congenita|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 107
View on ClinVar β†—
Related Genes
TERF2IPProtein interaction100%ACDProtein interaction100%TOP3AProtein interaction100%RMI1Protein interaction100%SLX4Protein interaction100%MMS19Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
63%
Lung
50%
Heart
34%
Liver
29%
Brain
23%
Gene Interaction Network
Click a node to explore
RTEL1TERF2IPACDTOP3ARMI1SLX4MMS19
PROTEIN STRUCTURE
Preparing viewer…
PDB7WU8 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.66LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.55 [0.47–0.66]
RankingsWhere RTEL1 stands among ~20K protein-coding genes
  • #3,973of 20,598
    Most Researched119 Β· top quartile
  • #216of 5,498
    Most Pathogenic Variants286 Β· top 5%
  • #4,838of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedRTEL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Helicases in R-loop Formation and Resolution.
PMID: 37778731
J Biol Chem Β· 2023
1.00
2
Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.
PMID: 39192095
Nat Genet Β· 2024
0.90
3
RTEL1 Regulates G4/R-Loops to Avert Replication-Transcription Collisions.
PMID: 33357438
Cell Rep Β· 2020
0.80
4
Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.
PMID: 28604730
Nat Genet Β· 2017
0.70
5
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.
PMID: 29146883
Blood Β· 2018
0.60