MEIOSIN

Summary

MEIOSIN (meiosis initiator, HGNC:44318) is a protein-coding gene on chromosome 19q13.32, encoding Meiosis initiator protein (C9JSJ3). Gatekeeper of meiotic initiation in both male and female germ cells.

Predicted to enable DNA binding activity and protein dimerization activity. Predicted to be involved in several processes, including activation of meiosis; cellular response to retinoic acid; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus.

Source: NCBI Gene 388553 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_001310124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:44318
Approved symbol	MEIOSIN
Name	meiosis initiator
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	HMGDC
Ensembl gene	ENSG00000237452
Ensembl biotype	protein_coding
OMIM	621203
Entrez	388553

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000457052, ENST00000926455

RefSeq mRNA: 1 — MANE Select: NM_001310124 NM_001310124

CCDS: CCDS82368

Canonical transcript exons

ENST00000457052 — 15 exons

Exon	Start	End
ENSE00001635813	45733439	45733666
ENSE00001642068	45753651	45753788
ENSE00001650309	45739626	45739730
ENSE00001666905	45735377	45735447
ENSE00001667192	45754479	45754724
ENSE00001678761	45758878	45759033
ENSE00001699226	45759414	45759490
ENSE00001757859	45761679	45761867
ENSE00001784240	45755970	45756078
ENSE00001795296	45745192	45745321
ENSE00001797771	45750675	45750786
ENSE00001800458	45757177	45757277
ENSE00002889078	45761939	45762183
ENSE00002904070	45763971	45764541
ENSE00002945739	45763338	45763427

Expression profiles

Bgee: expression breadth tissue_specific, 8 present calls, max score 73.33.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0189 / max 13.0815, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
176504	0.0189	4

Top tissues by expression

124 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	73.33	gold quality
left testis	UBERON:0004533	72.04	gold quality
testis	UBERON:0000473	71.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	52.77	gold quality
right atrium auricular region	UBERON:0006631	48.60	gold quality
cortical plate	UBERON:0005343	46.99	gold quality
ganglionic eminence	UBERON:0004023	43.83	gold quality
sural nerve	UBERON:0015488	40.34	gold quality
skeletal muscle tissue	UBERON:0001134	39.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	38.68	gold quality
lower esophagus mucosa	UBERON:0035834	38.13	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
muscle tissue	UBERON:0002385	36.56	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
placenta	UBERON:0001987	36.02	gold quality
granulocyte	CL:0000094	34.50	gold quality
monocyte	CL:0000576	34.42	gold quality
leukocyte	CL:0000738	34.29	gold quality
prefrontal cortex	UBERON:0000451	34.22	gold quality
heart	UBERON:0000948	33.96	gold quality
esophagus mucosa	UBERON:0002469	33.86	silver quality
cortex of kidney	UBERON:0001225	32.17	gold quality
mucosa of stomach	UBERON:0001199	31.81	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.58	gold quality
right adrenal gland cortex	UBERON:0035827	31.44	gold quality
right adrenal gland	UBERON:0001233	31.00	gold quality
blood	UBERON:0000178	30.58	gold quality
urinary bladder	UBERON:0001255	30.49	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting MEIOSIN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-4659B-5P	98.03	66.84	979
HSA-MIR-4659A-5P	98.03	66.42	819
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-6738-5P	96.33	63.61	815
HSA-MIR-1914-3P	95.07	63.37	762

Literature-anchored findings (GeneRIF, showing 1)

• Homozygous missense variant in MEIOSIN causes premature ovarian insufficiency. (PMID:37982418)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	meiosin	ENSDARG00000094059
mus_musculus	Meiosin	ENSMUSG00000085601
rattus_norvegicus	Meiosin	ENSRNOG00000067421

Protein

Protein identifiers

Meiosis initiator protein — C9JSJ3 (reviewed: C9JSJ3)

Alternative names: Basic helix-loop-helix and HMG box domain-containing protein 1

All UniProt accessions (1): C9JSJ3

UniProt curated annotations — full annotation on UniProt →

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. Temporal expression of MEIOSIN is required for meiotic entry decision.

Subunit / interactions. Interacts with STRA8.

Subcellular location. Nucleus.

RefSeq proteins (1): NP_001297053* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009071	HMG_box_dom	Domain
IPR011598	bHLH_dom	Domain
IPR036638	HLH_DNA-bd_sf	Homologous_superfamily
IPR036910	HMG_box_dom_sf	Homologous_superfamily

Pfam: PF00010, PF00505

UniProt features (16 total): region of interest 7, compositionally biased region 6, chain 1, domain 1, DNA-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9JSJ3-F1	52.15	0.11

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_NUCLEAR_DIVISION, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_REGULATION_OF_MEIOTIC_NUCLEAR_DIVISION, GOBP_OOGENESIS, GOBP_MALE_GAMETE_GENERATION, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_POSITIVE_REGULATION_OF_MEIOTIC_CELL_CYCLE, GOBP_CELLULAR_RESPONSE_TO_RETINOIC_ACID, GOBP_ORGANELLE_FISSION, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), spermatogenesis (GO:0007283), oogenesis (GO:0048477), meiotic cell cycle (GO:0051321), cellular response to retinoic acid (GO:0071300), activation of meiosis (GO:0090427)

GO Molecular Function (2): DNA binding (GO:0003677), protein dimerization activity (GO:0046983)

GO Cellular Component (1): nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
developmental process involved in reproduction	1
male gamete generation	1
germ cell development	1
female gamete generation	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
response to retinoic acid	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
positive regulation of meiotic nuclear division	1
nucleic acid binding	1
protein binding	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

304 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MEIOSIN	STRA8	Q7Z7C7	786
MEIOSIN	ZGLP1	P0C6A0	593
MEIOSIN	DMWD	Q09019	495
MEIOSIN	QPCTL	Q9NXS2	456
MEIOSIN	SYMPK	Q92797	454
MEIOSIN	SIX5	Q8N196	448
MEIOSIN	DAZL	Q92904	447
MEIOSIN	SYCP3	Q8IZU3	434
MEIOSIN	REC8	O95072	400
MEIOSIN	CYP26B1	Q9NR63	386
MEIOSIN	NANOS2	P60321	375
MEIOSIN	MEIOC	A2RUB1	356
MEIOSIN	RSPH6A	Q9H0K4	332
MEIOSIN	FBXO46	Q6PJ61	332
MEIOSIN	SYCP1	Q15431	322

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0A6YY25, A0A5K7RLP0, A6NMK8, A8MVX0, B2RQL2, B2RXH4, C9JSJ3, D2J0Y4, O54824, P97303, Q01954, Q05AH6, Q0VET5, Q14005, Q1W617, Q2YDE2, Q3MHT3, Q3U0P1, Q3ULM6, Q3UXL4, Q4R7L6, Q5RC05, Q5T0L3, Q68CR7, Q6GQV1, Q6NS69, Q6NZK5, Q6P1D7, Q6PG16, Q6ZVT6, Q7Z4V0, Q80W88, Q80XI1, Q811R2, Q86T90, Q86YN6, Q8BHP2, Q8BLK9, Q8BP99, Q8BW86

Diamond homologs: A0A5K7RLP0, C9JSJ3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

3 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2541 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45735372:TGCA:T	acceptor_loss	1.0000
19:45735374:CA:C	acceptor_loss	1.0000
19:45735375:A:AG	acceptor_gain	1.0000
19:45735375:AGAT:A	acceptor_gain	1.0000
19:45735376:G:GA	acceptor_gain	1.0000
19:45735376:GA:G	acceptor_gain	1.0000
19:45735376:GAT:G	acceptor_gain	1.0000
19:45735376:GATG:G	acceptor_gain	1.0000
19:45735376:GATGT:G	acceptor_gain	1.0000
19:45735445:CAGG:C	donor_loss	1.0000
19:45735447:GGTA:G	donor_loss	1.0000
19:45735448:G:C	donor_loss	1.0000
19:45735449:T:G	donor_loss	1.0000
19:45750785:GG:G	donor_gain	1.0000
19:45750786:GG:G	donor_gain	1.0000
19:45753646:TGCA:T	acceptor_loss	1.0000
19:45753647:GCA:G	acceptor_loss	1.0000
19:45753648:CA:C	acceptor_loss	1.0000
19:45753649:A:AC	acceptor_loss	1.0000
19:45753649:AG:A	acceptor_gain	1.0000
19:45753650:GG:G	acceptor_gain	1.0000
19:45753650:GGGCT:G	acceptor_gain	1.0000
19:45754566:G:GT	donor_gain	1.0000
19:45754566:G:T	donor_gain	1.0000
19:45754725:G:GG	donor_gain	1.0000
19:45759030:CAAGG:C	donor_loss	1.0000
19:45759034:GTGAG:G	donor_loss	1.0000
19:45759035:T:A	donor_loss	1.0000
19:45759412:A:AG	acceptor_gain	1.0000
19:45759413:G:GG	acceptor_gain	1.0000

AlphaMissense

4158 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45762143:T:C	F547L	1.000
19:45762144:T:C	F547S	1.000
19:45762145:C:A	F547L	1.000
19:45762145:C:G	F547L	1.000
19:45763390:T:A	W578R	1.000
19:45763390:T:C	W578R	1.000
19:45762144:T:G	F547C	0.999
19:45762147:T:A	I548N	0.999
19:45762152:T:C	F550L	0.999
19:45762153:T:C	F550S	0.999
19:45762154:C:A	F550L	0.999
19:45762154:C:G	F550L	0.999
19:45762155:T:C	C551R	0.999
19:45762168:G:C	R555P	0.999
19:45763379:T:C	L574P	0.999
19:45763391:G:C	W578S	0.999
19:45763392:G:C	W578C	0.999
19:45763392:G:T	W578C	0.999
19:45763987:T:C	F596L	0.999
19:45763989:C:A	F596L	0.999
19:45763989:C:G	F596L	0.999
19:45762140:G:C	G546R	0.998
19:45762141:G:A	G546D	0.998
19:45762147:T:C	I548T	0.998
19:45762153:T:G	F550C	0.998
19:45762156:G:A	C551Y	0.998
19:45762157:C:G	C551W	0.998
19:45762160:G:C	R552S	0.998
19:45762160:G:T	R552S	0.998
19:45762167:C:G	R555G	0.998

dbSNP variants (sampled 300 via entrez): RS1000172350 (19:45757593 T>A), RS1000267109 (19:45756171 C>T), RS1000324526 (19:45744195 T>C), RS1000328690 (19:45737524 G>A), RS1000481516 (19:45744485 G>T), RS1000573881 (19:45751149 G>A), RS1000630714 (19:45755957 A>G,T), RS1000794501 (19:45739123 G>T), RS1000941899 (19:45738768 G>A), RS1000947150 (19:45731643 A>G), RS1000985633 (19:45762882 G>A), RS1001010093 (19:45731942 C>T), RS1001047628 (19:45732594 T>C), RS1001134295 (19:45743566 G>A), RS1001187469 (19:45764362 T>C)

Disease associations

OMIM: gene MIM:621203 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
(+)-JQ1 compound	decreases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, affects response to substance	1
Methapyrilene	increases methylation	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.