• Gene id: 223082

Gene Summary

• Gene Symbol: ZNRF2   Gene   UCSC   Ensembl
• Aliases: RNF202
• Gene name: zinc and ring finger 2
• Alternate names: E3 ubiquitin-protein ligase ZNRF2, RING finger protein 202, RING-type E3 ubiquitin transferase ZNRF2, protein Ells2, zinc and ring finger 2, E3 ubiquitin protein ligase, zinc finger/RING finger 2, zinc/RING finger protein 2,
• Gene location: 7p14.3 (95474151: 95515838)     Exons: 11     NC_000012.12
• OMIM: 612061

Protein Summary

• Protein general information: Q8NHG8  
  • Name: E3 ubiquitin protein ligase ZNRF2 (EC 2.3.2.27) (Protein Ells2) (RING finger protein 202) (RING type E3 ubiquitin transferase ZNRF2) (Zinc/RING finger protein 2)
  • Length: 242  
  • Mass: 24115
  • Tissue specificity: Highly expressed in the brain, with higher expression during development than in adult. Expressed also in mammary glands, testis, colon and kidney. {ECO
• Sequence:

  MGAKQSGPAAANGRTRAYSGSDLPSSSSGGANGTAGGGGGARAAAAGRFPAQVPSAHQPSASGGAAAAAAAPAAP
  AAPRSRSLGGAVGSVASGARAAQSPFSIPNSSSGPYGSQDSVHSSPEDGGGGRDRPVGGSPGGPRLVIGSLPAHL
  SPHMFGGFKCPVCSKFVSSDEMDLHLVMCLTKPRITYNEDVLSKDAGECAICLEELQQGDTIARLPCLCIYHKGC
  IDEWFEVNRSCPEHPSD

• Structural information:
  • Interpro: IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000323879
• Other Databases: GeneCards:  ZNRF2  Malacards:  ZNRF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030054	cell junction	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030659	cytoplasmic vesicle membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0000209	protein polyubiquitination	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray