• Gene id: 148066

Gene Summary

• Gene Symbol: ZNRF4   Gene   UCSC   Ensembl
• Aliases: RNF204, SPERIZIN, Ssrzf1, spzn
• Gene name: zinc and ring finger 4
• Alternate names: E3 ubiquitin-protein ligase ZNRF4, RING finger protein 204, RING-type E3 ubiquitin transferase ZNRF4, nixin, zinc/RING finger protein 4,
• Gene location: 19p13.3 (5455416: 5456855)     Exons: 10     NC_000019.10
• OMIM: 612063

Protein Summary

• Protein general information: Q8WWF5  
  • Name: E3 ubiquitin protein ligase ZNRF4 (EC 2.3.2.27) (Nixin) (RING finger protein 204) (RING type E3 ubiquitin transferase ZNRF4) (Zinc/RING finger protein 4)
  • Length: 429  
  • Mass: 46958
• Sequence:

  MPLCRPEHLMPRASRVPVAASLPLSHAVIPTQLPSRPGHRPPGRPRRCPKASCLPPPVGPSSTQTAKRVTMGWPR
  PGRALVAVKALLVLSLLQVPAQAVVRAVLEDNSSSVDFADLPALFGVPLAPEGIRGYLMEVKPANACHPIEAPRL
  GNRSLGAIVLIRRYDCTFDLKVLNAQRAGFEAAIVHNVHSDDLVSMTHVYEDLRGQIAIPSVFVSEAASQDLRVI
  LGCNKSAHALLLPDDPPCHDLGCHPVLTVSWVLGCTLALVVSAFFVLNHLWLWAQACCSHRRPVKTSTCQKAQVR
  TFTWHNDLCAICLDEYEEGDQLKILPCSHTYHCKCIDPWFSQAPRRSCPVCKQSVAATEDSFDSTTYSFRDEDPS
  LPGHRPPIWAIQVQLRSRRLELLGRASPHCHCSTTSLEAEYTTVSSAPPEAPGQ

• Structural information:
  • Protein Domains: (151..22-)
    (/note="PA-)
    (/evidence="ECO:0000255"-)
  • Interpro: IPR003137  IPR001841  IPR013083  
  • Prosite: PS50089
  • STRING: ENSP00000222033
• Other Databases: GeneCards:  ZNRF4  Malacards:  ZNRF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005765	lysosomal membrane	IBA	cellular component
GO:0006511	ubiquitin-dependent protein catabolic process	IBA	biological process
GO:0061630	ubiquitin protein ligase activity	IBA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0006511	ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)