HELZ Gene - Helicase With Zinc Finger Domain
Comprehensive gene card for HELZ (helicase with zinc finger domain) including genomic annotation, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | HELZ |
|---|---|
| Full Name | helicase with zinc finger domain |
| Gene Type | protein-coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 9931 ncbi.nlm.nih.gov/gene/9931 |
| Ensembl ID | ENSG00000108379 |
| UniProt ID | P42694 |
| OMIM ID | 606692 |
| HGNC ID | 16873 |
| Aliases | DRHC, HELZ1, KIAA0054 |
Description
HELZ (helicase with zinc finger domain) is a protein-coding gene located on chromosome 17q24.2. It encodes an RNA helicase that contains a zinc finger domain and is involved in RNA metabolism, including translation regulation and stress granule assembly. HELZ is ubiquitously expressed and has been implicated in various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | Dysregulation of RNA helicase activity; altered translation of oncogenic transcripts | COSMIC; literature |
| Neurodevelopmental disorders | Potential loss-of-function variants affecting RNA metabolism | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.3 | High |
| Brain | 12.1 | Medium |
| Lung | 9.8 | Medium |
| Liver | 6.5 | Low |
| Heart | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.4 | High expression |
| HeLa | 11.2 | Moderate expression |
| K562 | 8.7 | Moderate expression |
| A549 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted truncation |
| c.567G>A (p.Met189Ile) | Missense | <0.01% | Unknown; likely benign |
| c.2345_2346insA | Frameshift | <0.01% | Loss of function; frameshift |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported in HELZ.
Dominant Negative (DN)
Not reported in HELZ.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • helicase activity |
| • RNA binding | • zinc ion binding |
| • translation regulator activity | • cytoplasmic stress granule |
Pathways
• RNA metabolism
• Translation regulation
• Stress granule assembly
Protein Summary
HELZ encodes a 1,542-amino acid protein that functions as an ATP-dependent RNA helicase. It contains a DExD/H-box helicase domain and a C-terminal zinc finger domain. The protein localizes to cytoplasmic stress granules and is involved in translational control under stress conditions. HELZ interacts with components of the translation initiation complex and may regulate the expression of specific mRNAs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HELZ2 Knockout HEK293 Cell Line | EDJ-KQ2511 | Human | 85441 | Details Get a Quote |
| HELZ Knockout HEK293 Cell Line | EDJ-KQ6824 | Human | 9931 | Details Get a Quote |
| HELZ2 Knockout A-549 Cell Line | EDJ-KQ23115 | Human | 85441 | Details Get a Quote |
| HELZ2 Knockout HCT 116 Cell Line | EDJ-KQ23116 | Human | 85441 | Details Get a Quote |
| HELZ2 Knockout HeLa Cell Line | EDJ-KQ23117 | Human | 85441 | Details Get a Quote |
| HELZ Knockout A-549 Cell Line | EDJ-KQ31360 | Human | 9931 | Details Get a Quote |
| HELZ Knockout HCT 116 Cell Line | EDJ-KQ31361 | Human | 9931 | Details Get a Quote |
| HELZ Knockout HeLa Cell Line | EDJ-KQ31362 | Human | 9931 | Details Get a Quote |
