MEIOB: Meiosis Specific With OB-Fold Domain
Key regulator of meiotic recombination and DNA double-strand break repair
Gene Information Card
| Symbol | MEIOB |
|---|---|
| Full Name | Meiosis Specific With OB-Fold Domain |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 254528 ncbi.nlm.nih.gov/gene/254528 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8N9N2 |
| OMIM ID | 617670 |
| HGNC ID | 26150 |
| Aliases | C16orf73, SPGF36, POF11 |
Description
MEIOB encodes a meiosis-specific protein containing an OB-fold domain that is essential for meiotic recombination. It localizes to meiotic chromosomes and interacts with SPO11 and other recombination factors to facilitate DNA double-strand break formation and repair during prophase I. Loss-of-function mutations cause meiotic arrest, leading to non-obstructive azoospermia in males and premature ovarian failure in females.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 36 | Biallelic loss-of-function mutations cause meiotic arrest and azoospermia | OMIM #618431 |
| Premature ovarian failure 11 | Biallelic mutations disrupt meiotic recombination leading to ovarian insufficiency | OMIM #618885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Fallopian tube | 0.8 | Not detected |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line TCam-2 | 8.1 | Germ cell origin |
| Embryonic stem cell line H1 | 0.2 | Low expression |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.631C>T (p.Gln211*) | Nonsense | Rare | Loss of function; truncation of OB-fold domain |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein expression |
| c.797_798del (p.Glu266Valfs*2) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause meiotic arrest and infertility
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • condensed nuclear chromosome (GO:0000794) | • nucleus (GO:0005634) |
| • double-strand break repair (GO:0006302) | • reciprocal meiotic recombination (GO:0007131) |
| • replication fork protection (GO:0048478) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
• Meiosis (KEGG: hsa04114)
Protein Summary
MEIOB is a 334-amino acid protein with a single OB-fold domain that binds single-stranded DNA. It forms a complex with SPO11 and other meiotic proteins to promote DNA double-strand break formation and repair during meiosis. The protein is essential for homologous chromosome pairing and crossover formation. Mutations in MEIOB lead to meiotic arrest and are a genetic cause of human infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MEIOB Knockout HEK293 Cell Line | EDJ-KQ11771 | Human | 254528 | Details Get a Quote |
| MEIOB Knockout A-549 Cell Line | EDJ-KQ40171 | Human | 254528 | Details Get a Quote |
| MEIOB Knockout HeLa Cell Line | EDJ-KQ59257 | Human | 254528 | Details Get a Quote |
| MEIOB Knockout HCT 116 Cell Line | EDJ-KQ76109 | Human | 254528 | Details Get a Quote |
