HORMAD2
HORMAD2 (HORMA domain containing 2) is a meiotic protein involved in chromosome synapsis and DNA double-strand break repair.
Gene Information Card
| Symbol | HORMAD2 |
|---|---|
| Full Name | HORMA domain containing 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 150280 ncbi.nlm.nih.gov/gene/150280 |
| Ensembl ID | ENSG00000100297 |
| UniProt ID | Q5VU69 |
| OMIM ID | 618452 |
| HGNC ID | 26997 |
| Aliases | CT46, HORMAD2A, HORMAD2B |
Description
HORMAD2 encodes a member of the HORMA domain protein family, which plays a critical role in meiotic chromosome synapsis and DNA double-strand break repair. The protein localizes to unsynapsed axes of meiotic chromosomes and is involved in the meiotic recombination checkpoint. HORMAD2 is expressed predominantly in testis and is essential for normal spermatogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure | Defective meiotic synapsis and DNA repair due to HORMAD2 loss-of-function variants | ClinVar, OMIM |
| Male infertility | Impaired spermatogenesis associated with HORMAD2 mutations | ClinVar, OMIM |
| Non-obstructive azoospermia | Meiotic arrest caused by HORMAD2 deficiency | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Ovary | 1.8 | Low |
| Fallopian tube | 0.9 | Low |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line | 12.5 | Testicular germ cell tumor |
| Embryonic stem cells | 2.1 | Low expression |
| HeLa | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.106C>T (p.Arg36*) | Nonsense | Rare | Loss of function; associated with spermatogenic failure |
| c.389G>A (p.Arg130Gln) | Missense | Rare | Potential loss of function; reported in male infertility |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or nonsense-mediated decay; associated with meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • meiotic chromosome synapsis | • DNA double-strand break repair |
| • meiotic recombination checkpoint | • protein binding |
| • nucleus | • chromosome |
Pathways
• Meiotic recombination
• Homologous recombination
• DNA damage response
Protein Summary
HORMAD2 is a 397-amino acid protein containing a HORMA domain. It localizes to unsynapsed meiotic chromosome axes and is required for the meiotic recombination checkpoint. The protein interacts with other meiotic factors to ensure proper chromosome pairing and DNA repair during meiosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| HORMAD2 Knockout HEK293 Cell Line | EDJ-KQ11263 | Human | 150280 | Details Get a Quote |
| HORMAD2 Knockout HeLa Cell Line | EDJ-KQ58654 | Human | 150280 | Details Get a Quote |
| HORMAD2 Knockout A-549 Cell Line | EDJ-KQ67135 | Human | 150280 | Details Get a Quote |
| HORMAD2 Knockout HCT 116 Cell Line | EDJ-KQ75541 | Human | 150280 | Details Get a Quote |
