• Gene id: 54542

Gene Summary

• Gene Symbol: RC3H2   Gene   UCSC   Ensembl
• Aliases: MNAB, RNF164
• Gene name: ring finger and CCCH-type domains 2
• Alternate names: roquin-2, RING finger protein 164, RING-type E3 ubiquitin transferase Roquin-2, membrane associated DNA binding protein, membrane-associated nucleic acid-binding protein, ring finger and CCCH-type zinc finger domain-containing protein 2, ring finger and CCCH-ty,
• Gene location: 9q33.2 (122905358: 122844555)     Exons: 22     NC_000009.12
• OMIM: 615231

Protein Summary

• Protein general information: Q9HBD1  
  • Name: Roquin 2 (EC 2.3.2.27) (Membrane associated nucleic acid binding protein) (RING finger and CCCH type zinc finger domain containing protein 2) (RING finger protein 164) (RING type E3 ubiquitin transferase Roquin 2)
  • Length: 1191  
  • Mass: 131669
  • Tissue specificity: Expressed in spleen, testis, ovary and small intestine. {ECO
• Sequence:

  MPVQAAQWTEFLSCPICYNEFDENVHKPISLGCSHTVCKTCLNKLHRKACPFDQTAINTDIDVLPVNFALLQLVG
  AQVPDHQSIKLSNLGENKHYEVAKKCVEDLALYLKPLSGGKGVASLNQSALSRPMQRKLVTLVNCQLVEEEGRVR
  AMRAARSLGERTVTELILQHQNPQQLSANLWAAVRARGCQFLGPAMQEEALKLVLLALEDGSALSRKVLVLFVVQ
  RLEPRFPQASKTSIGHVVQLLYRASCFKVTKRDEDSSLMQLKEEFRSYEALRREHDAQIVHIAMEAGLRISPEQW
  SSLLYGDLAHKSHMQSIIDKLQSPESFAKSVQELTIVLQRTGDPANLNRLRPHLELLANIDPNPDAVSPTWEQLE
  NAMVAVKTVVHGLVDFIQNYSRKGHETPQPQPNSKYKTSMCRDLRQQGGCPRGTNCTFAHSQEELEKYRLRNKKI
  NATVRTFPLLNKVGVNNTVTTTAGNVISVIGSTETTGKIVPSTNGISNAENSVSQLISRSTDSTLRALETVKKVG
  KVGANGQNAAGPSADSVTENKIGSPPKTPVSNVAATSAGPSNVGTELNSVPQKSSPFLTRVPVYPPHSENIQYFQ
  DPRTQIPFEVPQYPQTGYYPPPPTVPAGVAPCVPRFVRSNNVPESSLPPASMPYADHYSTFSPRDRMNSSPYQPP
  PPQPYGPVPPVPSGMYAPVYDSRRIWRPPMYQRDDIIRSNSLPPMDVMHSSVYQTSLRERYNSLDGYYSVACQPP
  SEPRTTVPLPREPCGHLKTSCEEQIRRKPDQWAQYHTQKAPLVSSTLPVATQSPTPPSPLFSVDFRADFSESVSG
  TKFEEDHLSHYSPWSCGTIGSCINAIDSEPKDVIANSNAVLMDLDSGDVKRRVHLFETQRRTKEEDPIIPFSDGP
  IISKWGAISRSSRTGYHTTDPVQATASQGSATKPISVSDYVPYVNAVDSRWSSYGNEATSSAHYVERDRFIVTDL
  SGHRKHSSTGDLLSLELQQAKSNSLLLQREANALAMQQKWNSLDEGRHLTLNLLSKEIELRNGELQSDYTEDATD
  TKPDRDIELELSALDTDEPDGQSEPIEEILDIQLGISSQNDQLLNGMAVENGHPVQQHQKEPPKQKKQSLGEDHV
  ILEEQKTILPVTSCFSQPLPVSISNASCLPITTSVSAGNLILKTHVMSEDKNDFLKPVANGKMVNS

• Structural information:
  • Interpro: IPR032670  IPR041523  IPR027370  IPR000571  IPR036855   IPR001841  IPR013083  IPR017907  
  • Prosite: PS50103 PS00518 PS50089
  • PDB: 4Z30 4Z31 4ZLC 4ZLD
  • PDBsum: 4Z30 4Z31 4ZLC 4ZLD
  • STRING: ENSP00000362774
• Other Databases: GeneCards:  RC3H2  Malacards:  RC3H2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0000209	protein polyubiquitination	IMP	biological process
GO:0048536	spleen development	IEA	biological process
GO:0048535	lymph node development	IEA	biological process
GO:0048286	lung alveolus development	IEA	biological process
GO:0035264	multicellular organism growth	IEA	biological process
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0001782	B cell homeostasis	IEA	biological process
GO:2000628	regulation of miRNA metabolic process	IEA	biological process
GO:2000320	negative regulation of T-helper 17 cell differentiation	IEA	biological process
GO:1901224	positive regulation of NIK/NF-kappaB signaling	IEA	biological process
GO:0061470	T follicular helper cell differentiation	IEA	biological process
GO:0060173	limb development	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0043029	T cell homeostasis	IEA	biological process
GO:0042098	T cell proliferation	IEA	biological process
GO:0009791	post-embryonic development	IEA	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0000932	P-body	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0061630	ubiquitin protein ligase activity	IDA	molecular function
GO:0035613	RNA stem-loop binding	IDA	molecular function
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0000209	protein polyubiquitination	IDA	biological process
GO:2000320	negative regulation of T-helper 17 cell differentiation	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:2000628	regulation of miRNA metabolic process	ISS	biological process
GO:0003729	mRNA binding	IEA	molecular function
GO:0004842	ubiquitin-protein transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0010608	posttranscriptional regulation of gene expression	IEA	biological process
GO:0016567	protein ubiquitination	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq