• Gene id: 285498

Gene Summary

• Gene Symbol: RNF212   Gene   UCSC   Ensembl
• Aliases: ZHP3
• Gene name: ring finger protein 212
• Alternate names: probable E3 SUMO-protein ligase RNF212, probable E3 SUMO-protein transferase RNF212,
• Gene location: 4p16.3 (1113793: 1056247)     Exons: 17     NC_000017.11
• Gene summary(Entrez): This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombin
• OMIM: 612041

SNPs

rs4045481

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.1096837G>A
NC_000004.11   g.1090625G>A
NG_027812.2   g.21958C>T
NG_027812.1   g.21728C>T
NM_001131034.4   c.174C>T
NM_001131034.3   c.174C>T
NM_194439.4   c.174C>T
NM_001193318.3   c.174C>T
NM_001193318.2   c.174C>T
NR_159501.1   n.486C>T
NR_159498.1   n.

Diseases

Associated diseases	References
Male meiotic failure	MIK: 25342176
Azoospermia	MIK: 29277047
Azoospermia	MIK: 31125047
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 29277047
Male meiotic failure	MIK: 25342176

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
29277047	Male infertility with azoospermia	rs4045481	Chinese	468 (220 infertile patients with azoospermia, 248 fertile men)	Male infertility	RNF212 STAG3 RFX2
25342176	Male meiotic failure, Male infertility				Male infertility
31125047	Azoospermia	c.111dupT		1300 infertile patients, 33 idiopathic NOA patients were analysed in this study, including 31 unrelated men and 2 brothers from a consanguineous family	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq