MAJIN (membrane anchored junction protein)

Gene

• Entrez ID: 283129
• Gene name: Membrane anchored junction protein
• Gene symbol: MAJIN
• Synonyms (NCBI Gene): C11orf85
• Chromosome: 11
• Chromosome location: 11q13.1

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0000781	Component	Chromosome, telomeric region	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IBA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005637	Component	Nuclear inner membrane	ISS
GO:0005694	Component	Chromosome	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IBA
GO:0007129	Process	Homologous chromosome pairing at meiosis	IEA
GO:0007129	Process	Homologous chromosome pairing at meiosis	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0016020	Component	Membrane	IEA
GO:0045141	Process	Meiotic telomere clustering	IEA
GO:0045141	Process	Meiotic telomere clustering	ISS
GO:0048477	Process	Oogenesis	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IBA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	IEA
GO:0070197	Process	Meiotic attachment of telomere to nuclear envelope	ISS
GO:1990918	Process	Double-strand break repair involved in meiotic recombination	IEA

Other IDs

• MIM: 617130
• HGNC: 27441
• e!Ensembl: ENSG00000168070

Protein

• UniProt ID: Q3KP22
• Protein name: Membrane-anchored junction protein
• Protein function: Meiosis-specific telomere-associated protein involved in meiotic telomere attachment to the nucleus inner membrane, a crucial step for homologous pairing and synapsis. Component of the MAJIN-TERB1-TERB2 complex, which promotes telomere cap excha
• PDB: 6GNX, 6GNY, 6J08
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15077	MAJIN	1 → 51	Membrane-anchored junction protein	Family
  PF15077	MAJIN	48 → 159	Membrane-anchored junction protein	Family

• Sequence:

  MSLKPFTYPFPETRFLHAGPNVYKFKIRYGKSIRGEEIENKEVITQELEVPVEKKAVGAV
  MRKRKHMDEPSSPSRPGLDRAKIGTSSQGPSKKKPPVETRRNRERKTQQGLQETLASDIT
  DVQKQDSEWGHSLPGRIVPPLQHNSPPPKERAATGFFGFLSSLFPFRYFFRKSSHS

• Sequence length: 176

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	33211200	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36689258	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	39323031	Associate	★☆☆☆☆ Found in Text Mining only