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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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HELLS
helicase, lymphoid specific
Chromosome 10 Β· 10q23.33
NCBI Gene: 3070Ensembl: ENSG00000119969.15HGNC: HGNC:4861UniProt: A0A087WSW7
145PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
FUNCTIONAL ROLE
Homologous RecombinationTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdouble-strand break repair via homologous recombinationsite of double-strand breakpericentric heterochromatinICF syndromeimmunodeficiency-centromeric instability-facial anomalies syndromeneurodegenerative diseasegenetic disorder
✦AI Summary

HELLS (helicase, lymphoid specific) is an ATP-dependent SNF2-like chr10 remodeler that regulates multiple critical cellular processes. Functionally, HELLS facilitates de novo DNA methylation and promotes transcriptional silencing of transposable elements through recruitment of DNMTs and HDACs, contributing to heterochromatin formation 1. HELLS also plays essential roles in DNA repair by recruiting damage response mediators to double-strand breaks and promoting homologous recombination via CtIP-dependent end resection in heterochromatin 2. Recently, HELLS was identified as a key regulator of single-strand break repair, with loss of HELLS sensitizing cells to DNA alkylating agents and PARP inhibitors 3. During meiosis, HELLS is recruited to recombination hotspots to facilitate chr10 opening 4. HELLS is abundantly expressed in highly proliferating lymphoid tissues, skin, and germ cells 1. Clinically, HELLS mutations cause ICF4 syndrome, characterized by immunodeficiency and centromeric instability 5. HELLS is significantly overexpressed in multiple cancer types and promotes tumor progression through epigenetic silencing of tumor suppressor genes and metabolic reprogramming 6. HELLS deficiency impairs germinal center B cell maintenance and high-affinity antibody generation, demonstrating its critical role in sustained humoral immunity 5.

Sources cited
1
HELLS is an SNF2 ATP-dependent chromatin-remodeling complex member expressed in highly proliferating lymphoid cells; mutations cause ICF syndrome; implicated in multiple cancers
PMID: 36012581
2
HELLS promotes homologous recombination by facilitating end-resection and CtIP accumulation at double-strand breaks in heterochromatin during G2
PMID: 31802118
3
HELLS regulates single-strand break repair; loss sensitizes cells to DNA alkylating agents and PARP inhibitors; upregulated in 33 cancer types
PMID: 41297801
4
HELLS is required for germinal center B cell survival and maintenance of high-affinity memory B cells through DNA methylation maintenance; HELLS deficiency causes ICF4 syndrome
PMID: 37709749
5
HELLS is overexpressed in hepatocellular carcinoma; promotes tumor progression by epigenetic silencing of tumor suppressor genes and metabolic reprogramming
PMID: 30516846
Disease Associationsβ“˜21
ICF syndromeOpen Targets
0.71Strong
immunodeficiency-centromeric instability-facial anomalies syndromeOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.32Weak
genetic disorderOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.10Suggestive
lung cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.07Suggestive
Romano-Ward syndromeOpen Targets
0.07Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
Familial progressive cardiac conduction defectOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.07Suggestive
Familial short QT syndromeOpen Targets
0.07Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
Immunodeficiency-centromeric instability-facial anomalies syndrome 4UniProt
Pathogenic Variants20
NM_018063.5(HELLS):c.370+2T>APathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4|not provided
β˜…β˜…β˜†β˜†2025
NM_018063.5(HELLS):c.1158_1159delinsTT (p.Leu386_Gln387delinsPheTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 386
NM_018063.5(HELLS):c.715del (p.Glu239fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 239
NM_018063.5(HELLS):c.385del (p.Arg129fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 129
NM_018063.5(HELLS):c.2394GTT[2] (p.Leu801del)Likely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 801
NM_018063.5(HELLS):c.1390C>T (p.Arg464Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 464
NM_018063.5(HELLS):c.31+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_018063.5(HELLS):c.1816C>T (p.Arg606Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 606
NM_018063.5(HELLS):c.276+1G>ALikely pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
β˜…β˜†β˜†β˜†2023
NM_018063.5(HELLS):c.1528C>T (p.Arg510Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 510
NM_018063.5(HELLS):c.301G>T (p.Glu101Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 101
NM_018063.5(HELLS):c.1519C>T (p.Arg507Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 507
NM_018063.5(HELLS):c.1681C>T (p.Gln561Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 561
NM_018063.5(HELLS):c.1293_1296del (p.Arg432fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 432
NM_018063.5(HELLS):c.1972-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_018063.5(HELLS):c.2007dup (p.Phe670fs)Likely pathogenic
HELLS-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 670
NM_018063.5(HELLS):c.374_381dup (p.Lys128Ter)Pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 128
NM_018063.5(HELLS):c.610A>T (p.Lys204Ter)Pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 204
NM_018063.5(HELLS):c.2283_2286del (p.Ser762fs)Pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
β˜†β˜†β˜†β˜†2017β†’ Residue 762
NM_018063.5(HELLS):c.2096A>G (p.Gln699Arg)Pathogenic
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
β˜†β˜†β˜†β˜†2011β†’ Residue 699
View on ClinVar β†—
Related Genes
MCM4Protein interaction100%MCM3Protein interaction100%HDAC1Protein interaction100%WDR76Protein interaction97%HDAC2Protein interaction97%EXO1Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
11%
Brain
10%
Lung
5%
Liver
4%
Heart
1%
Gene Interaction Network
Click a node to explore
HELLSMCM4MCM3HDAC1WDR76HDAC2EXO1
PROTEIN STRUCTURE
Preparing viewer…
PDB8SKZ Β· 3.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.63Intermediate
Observed/Expected LoF0.38 [0.25–0.59]
RankingsWhere HELLS stands among ~20K protein-coding genes
  • #3,136of 20,598
    Most Researched145 Β· top quartile
  • #2,185of 5,498
    Most Pathogenic Variants20
  • #3,962of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedHELLS
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Diagnostic, Prognostic, and Immunological Roles of HELLS in Pan-Cancer: A Bioinformatics Analysis.
PMID: 35774795
Front Immunol Β· 2022
1.00
2
Multi-Omics Analysis Reveals Translational Landscapes and Regulations in Mouse and Human Oocyte Aging.
PMID: 37401155
Adv Sci (Weinh) Β· 2023
0.90
3
The Chromatin Remodeler HELLS: A New Regulator in DNA Repair, Genome Maintenance, and Cancer.
PMID: 36012581
Int J Mol Sci Β· 2022
0.80
4
Germinal center output is sustained by HELLS-dependent DNA-methylation-maintenance in B cells.
PMID: 37709749
Nat Commun Β· 2023
0.70
5
HELLS: the transcriptional sentinel.
PMID: 39890476
Trends Cell Biol Β· 2025
0.60