• Gene id: 6038

Gene Summary

• Gene Symbol: RNASE4   Gene   UCSC   Ensembl
• Aliases: RAB1, RNS4
• Gene name: ribonuclease A family member 4
• Alternate names: ribonuclease 4, RNase 4, epididymis secretory sperm binding protein, ribonuclease A B1, ribonuclease, RNase A family, 4,
• Gene location: 14q11.2 (35745417: 35742463)     Exons: 10     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the pancreatic ribonuclease family. It plays an important role in mRNA cleavage and has marked specificity towards the 3' side of uridine nucleotides. Alternative splicing results in four transcript variants enc
• OMIM: 601030

Protein Summary

• Protein general information: P34096  
  • Name: Ribonuclease 4 (RNase 4) (EC 3.1.27. )
  • Length: 147  
  • Mass: 16840
• Sequence:

  MALQRTHSLLLLLLLTLLGLGLVQPSYGQDGMYQRFLRQHVHPEETGGSDRYCNLMMQRRKMTLYHCKRFNTFIH
  EDIWNIRSICSTTNIQCKNGKMNCHEGVVKVTDCRDTGSSRAPNCRYRAIASTRRVVIACEGNPQVPVHFDG

• Structural information:
  • Interpro: IPR001427  IPR036816  IPR023411  IPR023412  
  • Prosite: PS00127
  • PDB: 1RNF 2RNF
  • PDBsum: 1RNF 2RNF
  • STRING: ENSP00000452245
• Other Databases: GeneCards:  RNASE4  Malacards:  RNASE4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004519	endonuclease activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0004540	ribonuclease activity	IDA	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0090501	RNA phosphodiester bond hydrolysis	IDA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IEA	biological process
GO:0005576	extracellular region	IDA	cellular component
GO:0006379	mRNA cleavage	NAS	biological process
GO:0004522	ribonuclease A activity	NAS	molecular function
GO:0004540	ribonuclease activity	IBA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray