ZCCHC8 Gene - Zinc Finger CCHC-Type Containing 8
A gene encoding a zinc finger protein involved in telomerase RNA processing and telomere maintenance.
Gene Information Card
| Symbol | ZCCHC8 |
|---|---|
| Full Name | Zinc Finger CCHC-Type Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q24.31 |
| NCBI Gene ID | 55596 ncbi.nlm.nih.gov/gene/55596 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q6NZY4 |
| OMIM ID | 616381 |
| HGNC ID | 28923 |
| Aliases | FLJ12671, dJ341D10.1 |
Description
ZCCHC8 encodes a zinc finger protein containing a CCHC-type domain. It is a component of the telomerase holoenzyme complex and is involved in the processing and maturation of telomerase RNA (TERC). ZCCHC8 is essential for proper telomere maintenance and has been implicated in telomere biology disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (PFBMFT4) | Loss-of-function mutations in ZCCHC8 impair telomerase RNA processing, leading to shortened telomeres and cellular senescence. | OMIM #616381; ClinVar |
| Idiopathic pulmonary fibrosis (IPF) | ZCCHC8 variants contribute to telomere dysfunction, a known risk factor for IPF. | ClinVar; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Medium |
| Lung | 6.1 | Low |
| Heart | 4.8 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| A549 | 5.9 | Lung carcinoma cells |
| K562 | 4.3 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | <0.01% | Premature stop codon; loss of protein function |
| c.287_288del (p.Glu96Valfs*2) | Frameshift deletion | <0.01% | Frameshift leading to truncated protein |
| c.589G>A (p.Gly197Arg) | Missense | <0.01% | Likely damaging; disrupts zinc finger domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg38*, p.Glu96Valfs*2) result in truncated or absent ZCCHC8 protein, impairing telomerase RNA processing and telomere maintenance.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZCCHC8.
Dominant Negative (DN)
Some missense variants (e.g., p.Gly197Arg) may act in a dominant-negative manner by interfering with the telomerase complex assembly, though evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Telomere maintenance (Reactome: R-HSA-157579)
• Telomerase RNA processing (Reactome: R-HSA-6804756)
Protein Summary
ZCCHC8 is a 299-amino acid protein with a CCHC-type zinc finger domain. It localizes to the nucleus and is a component of the telomerase holoenzyme complex. The protein binds directly to telomerase RNA (TERC) and facilitates its processing and stability. Loss of ZCCHC8 function leads to telomere shortening and is associated with telomere biology disorders such as pulmonary fibrosis and bone marrow failure.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZCCHC8 Knockout HEK293 Cell Line | EDJ-KQ3981 | Human | 55596 | Details Get a Quote |
| ZCCHC8 Knockout A-549 Cell Line | EDJ-KQ47446 | Human | 55596 | Details Get a Quote |
| ZCCHC8 Knockout HCT 116 Cell Line | EDJ-KQ47447 | Human | 55596 | Details Get a Quote |
| ZCCHC8 Knockout HeLa Cell Line | EDJ-KQ47448 | Human | 55596 | Details Get a Quote |
