HMCES Gene: Role in DNA Repair and Genome Stability
Explore the HMCES gene, its protein product, expression patterns, associated diseases, and mutations.
Gene Information Card
| Symbol | HMCES |
|---|---|
| Full Name | 5-hydroxymethylcytosine binding, ES cell specific |
| Gene Type | Protein coding |
| Chromosomal Location | 3q21.3 |
| NCBI Gene ID | 201255 ncbi.nlm.nih.gov/gene/201255 |
| Ensembl ID | ENSG00000183617 |
| UniProt ID | Q96FZ7 |
| OMIM ID | 618435 |
| HGNC ID | 27505 |
| Aliases | C3orf37, DC6, FLJ22457 |
Description
The HMCES gene encodes a protein that binds to 5-hydroxymethylcytosine (5hmC) and plays a critical role in DNA repair, specifically at abasic (AP) sites. It is involved in protecting genome stability by forming a covalent crosslink to AP sites in single-stranded DNA, preventing DNA strand breaks and mutagenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | HMCES mutations may impair DNA repair, leading to increased mutagenesis and genomic instability, contributing to tumorigenesis. | COSMIC; PubMed studies (e.g., PMID: 31235913) |
| Immunodeficiency (potential) | Loss of HMCES function may affect immune cell development or function due to DNA repair defects, but direct evidence is limited. | Inferred from function; not yet clinically confirmed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.4 | Medium |
| Spleen | 8.7 | Low |
| Lung | 6.2 | Low |
| Brain | 5.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 10.5 | Myelogenous leukemia cell line; moderate expression |
| HeLa | 8.2 | Cervical adenocarcinoma; moderate expression |
| A549 | 6.8 | Lung carcinoma; low expression |
| MCF7 | 5.9 | Breast adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, leading to truncated protein |
| c.250C>T (p.Arg84Ter) | Nonsense | Rare | Premature stop codon, likely loss of function |
| c.400_401insA (p.Thr134AsnfsTer2) | Frameshift | Rare | Frameshift leading to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense, frameshift) are expected to impair HMCES's ability to protect AP sites, leading to increased DNA damage and genomic instability.
Gain of Function (GOF)
No evidence of gain-of-function mutations in HMCES.
Dominant Negative (DN)
No evidence of dominant-negative mutations; HMCES functions as a monomer, and haploinsufficiency may be relevant.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • DNA repair |
| • protein homodimerization activity | • 5-hydroxymethylcytosine binding |
| • abasic site binding | • covalent chromatin modification |
| • response to DNA damage stimulus |
Pathways
• Base Excision Repair (BER) - AP site processing
• DNA Damage Response
Protein Summary
The HMCES protein is a 5-hydroxymethylcytosine (5hmC) binding protein that localizes to chromatin and is involved in DNA repair. It specifically recognizes abasic (AP) sites in single-stranded DNA and forms a covalent thiazolidine linkage via its N-terminal cysteine, thereby protecting the AP site from cleavage and preventing DNA strand breaks. This activity is crucial for maintaining genome stability, especially during replication and transcription. HMCES is conserved across species and is expressed in various tissues, with higher expression in testis and spleen.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HMCES Knockout HEK293 Cell Line | EDJ-KQ3482 | Human | 56941 | Details Get a Quote |
| HMCES Knockout HeLa Cell Line | EDJ-KQ23878 | Human | 56941 | Details Get a Quote |
| HMCES Knockout A-549 Cell Line | EDJ-KQ25254 | Human | 56941 | Details Get a Quote |
| HMCES Knockout HCT 116 Cell Line | EDJ-KQ25255 | Human | 56941 | Details Get a Quote |
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