MEIOSIN (meiosis initiator)

Gene

• Entrez ID: 388553
• Gene name: Meiosis initiator
• Gene symbol: MEIOSIN
• Synonyms (NCBI Gene): BHMG1, HMGDC
• Chromosome: 19
• Chromosome location: 19q13.32

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007283	Process	Spermatogenesis	ISS
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048477	Process	Oogenesis	ISS
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	ISS
GO:0071300	Process	Cellular response to retinoic acid	ISS
GO:0090427	Process	Activation of meiosis	ISS

Other IDs

• MIM: 621203
• HGNC: 44318
• e!Ensembl: ENSG00000237452

Protein

• UniProt ID: C9JSJ3
• Protein name: Meiosis initiator protein (Basic helix-loop-helix and HMG box domain-containing protein 1)
• Protein function: Gatekeeper of meiotic initiation in both male and female germ cells. In complex with STRA8, directly activates the transcription of a subset of critical meiotic genes playing a central role in cell-cycle switching from mitosis to meiosis. Tempor
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00010	HLH	71 → 117	Helix-loop-helix DNA-binding domain	Domain
  PF00505	HMG_box	540 → 606	HMG (high mobility group) box	Domain

• Sequence:

  MFGSSRYLGSSEQPRANSLGPSDRTLVLCSLVEGEDKVNPSEPHGLRMEEKWLLKGKLRN
  QRNQNKLLSPNKKQRKNHTSKLQELALLLPIALKTGTKKLTKKEILVHVLQYIQYLQRNI
  DAAKALFKCHITTGEGGLAGLGQKPAWGPARRRRHSTPSSSPSSQKSCLQGACQKPRKKK
  LTQASESQTRTPKPRRSLALNKPEKLVAPSPDQKGSGTGGTTTPPRCPDSCGHPRPASSS
  PPGDRKGGQSQLTLLDLAEDTIHCDISSCWCQGSVQDDAPFPALLAQEDVARIHFLNKTQ
  PHPRQKLVFYDSSEDVDKGSLDADPWLPAWTPENSPQGSPLFLGPPQIDVWSGTGHPSEI
  LGLSPSLFSSPGKLLPDEILEDDMEYLTQAAFFEEVCLDLESSPSAYTQEAPQEKDTASK
  APKDPPESHSLHRSSVSLDHCYLSLSGNSKAPSSSSSSSSSSSSSEDSDSEPLWKQREDM
  QANPVGTPGSSEEDEDTTWTPTRLASPLLAAEKKATKGQVARAPVKPKEKKKGPCPPQMK
  KKCVNGFIMFCRMNRKQYIRSCPGTASTAATKELAQLWRVMTQQERRPYCTKARRFSRQH
  NRIVKQDGSSSEAEDWETPKPFYQLLAEKALPLPPHLQ

• Sequence length: 638

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	30617256		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	31361310	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	GWASDB_DG	21211798		★☆☆☆☆ Found in Text Mining only