AlphaFold predicted structure
RECQL4 · O94761
Mean pLDDT
67.4/ 100
Low
1,208 residues
Confidence breakdown
- Very high(≥ 90)32%
- Confident(70–90)27%
- Low(50–70)6%
- Very low(< 50)35%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
RECQL4
Chr 8q24.3RecQ like helicase 4
- Aliases:
- RecQ4
- MANE:
- ENST00000617875.6
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood solid tumours
BIALLELIC, autosomal or pseudoautosomalChildhood solid tumours cancer susceptibility
BIALLELIC, autosomal or pseudoautosomalCOVID-19 research
BIALLELIC, autosomal or pseudoautosomalCutaneous photosensitivity with a likely genetic cause
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalMonogenic short stature
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
Rothmund-Thomson syndrome type 2
0.83Baller-Gerold syndrome
0.81rapadilino syndrome
0.76Rothmund-Thomson syndrome
0.71osteosarcoma
0.53Inherited cancer-predisposing syndrome
0.52hereditary neoplastic syndrome
0.52hereditary disease
0.51severe combined immunodeficiency
0.46combined immunodeficiency
0.46
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
ATP-dependent DNA helicase Q4
An ATP-dependent DNA helicase which unwinds dsDNA with a 3'-overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:22730300, PubMed:28653661)
Diseases associated with RECQL4
Curated MONDO disease pages that list RECQL4 among their top associated genes.