HELLS Gene (Lymphoid-Specific Helicase)
A chromatin remodeling helicase involved in DNA methylation, genomic stability, and immune system development.
Gene Information Card
| Symbol | HELLS |
|---|---|
| Full Name | Helicase, Lymphoid Specific |
| Gene Type | Protein coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 3070 ncbi.nlm.nih.gov/gene/3070 |
| Ensembl ID | ENSG00000119969 |
| UniProt ID | Q9NRZ9 |
| OMIM ID | 603946 |
| HGNC ID | 4861 |
| Aliases | SMARCA6, LSH, PASG, Nbla10043 |
Description
The HELLS gene encodes a lymphoid-specific helicase belonging to the SNF2 family of chromatin remodeling proteins. It is essential for DNA methylation maintenance, heterochromatin formation, and genomic stability. HELLS plays a critical role in lymphocyte development, DNA repair, and silencing of repetitive elements. Mutations in HELLS cause immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome type 4.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency-centromeric instability-facial anomalies syndrome 4 (ICF4) | Loss-of-function mutations impair DNA methylation at pericentromeric repeats, leading to chromosomal instability and immune deficiency. | OMIM #616911; ClinVar |
| Acute myeloid leukemia (AML) | Somatic mutations and reduced expression contribute to aberrant DNA methylation and leukemogenesis. | COSMIC; PMID: 25398939 |
| Colorectal cancer | HELLS overexpression correlates with CpG island methylator phenotype (CIMP) and poor prognosis. | COSMIC; PMID: 29247046 |
| Breast cancer | Altered HELLS expression linked to tumor progression and metastasis. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.3 | Medium |
| Spleen | 10.8 | Medium |
| Lymph node | 9.5 | Medium |
| Thymus | 8.7 | Medium |
| Testis | 6.2 | Low |
| Brain | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 14.2 | High expression |
| HEK 293 (embryonic kidney) | 8.1 | Moderate |
| HeLa (cervical carcinoma) | 6.5 | Low |
| HepG2 (liver carcinoma) | 4.3 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1462C>T (p.Arg488*) | Nonsense | Rare (ICF4) | Loss of function; truncated protein |
| c.1993G>A (p.Glu665Lys) | Missense | Rare (ICF4) | Impaired helicase activity |
| c.2441_2442del (p.Leu814Argfs*5) | Frameshift | Rare (ICF4) | Loss of function |
| c.1123A>G (p.Thr375Ala) | Missense | Somatic (AML) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations in HELLS cause ICF4 syndrome via loss of helicase activity and defective DNA methylation.
Gain of Function (GOF)
Not reported; overexpression in some cancers may confer oncogenic properties but no activating mutations are documented.
Dominant Negative (DN)
Not established; ICF4 mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004386 (helicase activity) | • GO:0005524 (ATP binding) |
| • GO:0006338 (chromatin remodeling) | • GO:0006306 (DNA methylation) |
| • GO:0006974 (DNA damage response) | • GO:0005654 (nucleoplasm) |
| • GO:0005634 (nucleus) |
Pathways
• DNA methylation (REACT: R-HSA-5334118)
• Chromatin organization (REACT: R-HSA-4839726)
• SNF2 family chromatin remodeling
Protein Summary
HELLS (LSH) is a 838-amino acid ATP-dependent chromatin remodeling helicase. It contains a SNF2-related helicase domain and is involved in maintaining DNA methylation patterns, particularly at repetitive sequences and transposons. The protein localizes to the nucleus and interacts with DNMT3B and other epigenetic regulators. Loss of HELLS leads to hypomethylation, genomic instability, and immune defects.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HELLS Knockout HEK293 Cell Line | EDC08186 | Human | 3070 | Details Get a Quote |
| HELLS Knockout A-549 Cell Line | EDJ-KQ26202 | Human | 3070 | Details Get a Quote |
| HELLS Knockout HCT 116 Cell Line | EDJ-KQ26203 | Human | 3070 | Details Get a Quote |
| HELLS Knockout HeLa Cell Line | EDJ-KQ26204 | Human | 3070 | Details Get a Quote |
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