MAJIN

Chr 11

membrane anchored junction protein

Also known as: C11orf85

NCBI Gene: 283129 ENSG00000168070 UniProt: Q3KP22 OMIM: 617130

The MAJIN protein is a meiosis-specific telomere-associated protein that anchors telomeres to the nuclear inner membrane and promotes telomere cap exchange, which are crucial steps for homologous chromosome pairing during meiosis. This gene is highly tolerant to loss-of-function variants based on population data, and no specific disease associations have been established in the provided information. The protein functions as part of the MAJIN-TERB1-TERB2 complex during oogenesis and spermatogenesis.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity. Acts upstream of or within protein localization to nuclear envelope. Is active in nuclear membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.06

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.06LOEUF

pLI 0.001

Z-score 1.43

OE 0.56 (0.32–1.06)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.15Z-score

OE missense 0.96 (0.82–1.13)

112 obs / 116.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.56 (0.32–1.06)

0≤0.351.4

Missense OE?0.96 (0.82–1.13)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 7 / 12.4Missense obs/exp: 112 / 116.5Syn Z: 0.58

Background carrier burden — how many people carry a rare variant somewhere in MAJIN?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

326 rare PASS variants

Rare truncating (LoF)

1 in 1,100

76 rare PASS variants

Rare synonymous (reference)

1 in 520

85 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MAJIN. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 220	1 in 1,100
South Asian	~43k	1 in 320	1 in 1,700
Remaining (unassigned)	~30k	1 in 190	1 in 530
European (Finnish)	~27k	1 in 380	1 in 4,800
Admixed American	~22k	1 in 170	1 in 1,200
African / African American	~21k	1 in 170	1 in 910
East Asian	~20k	1 in 200	1 in 2,500
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,884	1 in 150	≈ 1 in 960

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 8 coding exons well covered in gnomAD exomes and genomes.? see exons ↓