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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAJIN
membrane anchored junction protein
Chromosome 11 · 11q13.1
NCBI Gene: 283129Ensembl: ENSG00000168070.13HGNC: HGNC:27441UniProt: A0A0P0YTB5
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprotein localization to nuclear envelopenuclear membranenuclear inner membraneazoospermiapartial chromosome Y deletionspermatogenic failure 50spermatogenic failure 25
✦AI Summary

MAJIN (membrane anchored junction protein) is a meiosis-specific protein essential for telomere attachment to the nuclear inner membrane during meiotic prophase I. 1 MAJIN functions as the membrane-anchoring subunit of the tripartite meiotic telomere complex (MTC), which also includes TERB1 and TERB2. 2 The MAJIN-TERB2-TERB1 complex mediates telomere cap exchange, whereby the shelterin complex is displaced from telomeric DNA and replaced by the MTC, creating a stable link between telomeric DNA and the inner nuclear membrane. 3 This attachment is critical for meiotic chromosome 11 and homologous pairing. 1 Mutations in MAJIN cause significant reproductive pathology. Biallelic MAJIN variants have been identified in patients with androgenetic hydatidiform moles, 4 while rare homozygous and compound heterozygous variants are associated with non-obstructive azoospermia (NOA) in men, correlating with germ cell maturation arrest. 5 Computational analyses predict that missense mutations in MAJIN can destabilize protein structure and disrupt protein-protein interactions critical for the MTC function. 6 Loss of MAJIN function abolishes telomere-nuclear envelope attachment, causing aberrant homologous pairing and disordered synapsis. 1 These findings establish MAJIN as an essential gene for successful meiosis and fertility in both sexes.

Sources cited
1
MAJIN is part of the meiotic telomere complex that tethers telomeres to the nuclear envelope and promotes homologous pairing
PMID: 30718482
2
MAJIN-TERB2 hetero-tetramer binds DNA and is tethered to the inner nuclear membrane; describes the molecular architecture of telomere attachment
PMID: 30559341
3
MAJIN mediates telomere cap exchange by taking over telomeric DNA from shelterin and forming a direct link between telomeric DNA and the inner nuclear membrane
PMID: 26548954
4
Biallelic deleterious variants in MAJIN are associated with androgenetic hydatidiform moles and are essential for meiosis I
PMID: 39545410
5
Rare homozygous missense variant in MAJIN identified in non-obstructive azoospermia patient with germ cell maturation arrest
PMID: 33211200
6
Missense mutations in MAJIN can be deleterious and affect protein structure, stability, and function in the meiotic telomere complex
PMID: 35342767
Disease Associationsⓘ20
azoospermiaOpen Targets
0.10Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.07Suggestive
spermatogenic failure 71Open Targets
0.07Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.07Suggestive
spermatogenic failure 8Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
isochromosomy YpOpen Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 63Open Targets
0.07Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SUN1Protein interaction82%TERB1Protein interaction79%TERF1Protein interaction78%TERB2Protein interaction74%ANKRD31Shared pathway50%MND1Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
50%
Brain
22%
Lung
13%
Ovary
9%
Heart
0%
Gene Interaction Network
Click a node to explore
MAJINSUN1TERB1TERF1TERB2ANKRD31MND1
PROTEIN STRUCTURE
Preparing viewer…
PDB6GNY · 1.85 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.25LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.91 [0.67–1.25]
RankingsWhere MAJIN stands among ~20K protein-coding genes
  • #16,821of 20,598
    Most Researched11
  • #13,220of 17,882
    Most Constrained (LOEUF)1.25
Genes detectedMAJIN
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.
PMID: 39545410
J Clin Invest · 2024
1.00
2
Computational Analysis of the Potential Impact of MTC Complex Missenses SNPs Associated with Male Infertility.
PMID: 35342767
Biomed Res Int · 2022
0.90
3
Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia.
PMID: 33211200
Hum Genet · 2021
0.80
4
The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope.
PMID: 30718482
Nat Commun · 2019
0.70
5
Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1.
PMID: 30559341
Nat Commun · 2018
0.60