MEIOSIN (meiosis initiator)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
388553
Gene name Gene Name - the full gene name approved by the HGNC.
Meiosis initiator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MEIOSIN
Synonyms (NCBI Gene) Gene synonyms aliases
BHMG1, HMGDC
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
621203 44318 ENSG00000237452
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS