MAJIN: A Key Component of the Meiotic Telomere Complex
Essential for homologous chromosome pairing and meiotic recombination
Gene Information Card
| Symbol | MAJIN |
|---|---|
| Full Name | Membrane Anchored Junction Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 129668 ncbi.nlm.nih.gov/gene/129668 |
| Ensembl ID | ENSG00000187713 |
| UniProt ID | Q8N9R8 |
| OMIM ID | 617022 |
| HGNC ID | 26442 |
| Aliases | C11orf77, FLJ32915 |
Description
MAJIN (Membrane Anchored Junction Protein) is a component of the meiotic telomere complex (MAJIN-TERB1-TERB2) that anchors telomeres to the nuclear envelope during meiotic prophase I. This attachment is critical for homologous chromosome pairing, synapsis, and recombination. MAJIN is essential for fertility in mammals.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 56 | Disruption of meiotic telomere attachment leads to impaired homologous pairing and meiotic arrest | OMIM #619585; ClinVar |
| Non-obstructive azoospermia | Loss-of-function variants cause meiotic arrest and absence of sperm | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Ovary | 1.2 | Low |
| Lymph node | 0.8 | Low |
| Bone marrow | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Seminoma cell line (TCam-2) | 8.3 | Testicular germ cell tumor model |
| HEK293 | 0.1 | Low expression |
| K562 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.226C>T (p.Arg76*) | Nonsense | Rare | Premature stop, loss of function |
| c.389_390del (p.Glu130Glyfs*4) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported MAJIN mutations are loss-of-function, leading to meiotic arrest and infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Meiotic telomere attachment (MAJIN-TERB1-TERB2 complex)
• Meiotic recombination
Protein Summary
MAJIN is a 228-amino acid protein with a transmembrane domain that anchors the meiotic telomere complex to the inner nuclear membrane. It interacts directly with TERB1 and TERB2 to form a bridge between telomeres and the nuclear envelope, enabling chromosome movement and pairing during meiosis. Loss of MAJIN disrupts telomere attachment, leading to meiotic arrest and infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAJIN Knockout HEK293 Cell Line | EDJ-KQ13394 | Human | 283129 | Details Get a Quote |
| MAJIN Knockout HeLa Cell Line | EDJ-KQ59377 | Human | 283129 | Details Get a Quote |
| MAJIN Knockout A-549 Cell Line | EDJ-KQ67840 | Human | 283129 | Details Get a Quote |
| MAJIN Knockout HCT 116 Cell Line | EDJ-KQ76223 | Human | 283129 | Details Get a Quote |
