• Gene id: 55696

Gene Summary

• Gene Symbol: RBM22   Gene   UCSC   Ensembl
• Aliases: Cwc2, ZC3H16, fSAP47
• Gene name: RNA binding motif protein 22
• Alternate names: pre-mRNA-splicing factor RBM22, functional spliceosome-associated protein 47, zinc finger CCCH domain-containing protein 16,
• Gene location: 5q33.1 (150701088: 150690791)     Exons: 11     NC_000005.10
• Gene summary(Entrez): This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, and X. [provided by RefSeq, Mar 2009]
• OMIM: 612430

Protein Summary

• Protein general information: Q9NW64  
  • Name: Pre mRNA splicing factor RBM22 (RNA binding motif protein 22) (Zinc finger CCCH domain containing protein 16)
  • Length: 420  
  • Mass: 46896
• Sequence:

  MATSLGSNTYNRQNWEDADFPILCQTCLGENPYIRMTKEKYGKECKICARPFTVFRWCPGVRMRFKKTEVCQTCS
  KLKNVCQTCLLDLEYGLPIQVRDAGLSFKDDMPKSDVNKEYYTQNMEREISNSDGTRPVGMLGKATSTSDMLLKL
  ARTTPYYKRNRPHICSFWVKGECKRGEECPYRHEKPTDPDDPLADQNIKDRYYGINDPVADKLLKRASTMPRLDP
  PEDKTITTLYVGGLGDTITETDLRNHFYQFGEIRTITVVQRQQCAFIQFATRQAAEVAAEKSFNKLIVNGRRLNV
  KWGRSQAARGKEKEKDGTTDSGIKLEPVPGLPGALPPPPAAEEEASANYFNLPPSGPPAVVNIALPPPPGIAPPP
  PPGFGPHMFHPMGPPPPFMRAPGPIHYPSQDPQRMGAHAGKHSSP

• Structural information:
  • Protein Domains: (232..30-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR039171  IPR012677  IPR035979  IPR000504  IPR000571   IPR036855  
  • Prosite: PS50102 PS50103
  • PDB: 2YTC 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • PDBsum: 2YTC 5MQF 5XJC 5YZG 5Z56 5Z57 6FF4 6FF7 6ICZ 6ID0 6ID1 6QDV
  • STRING: ENSP00000199814
• Other Databases: GeneCards:  RBM22  Malacards:  RBM22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071007	U2-type catalytic step 2 spliceosome	IBA	cellular component
GO:0000974	Prp19 complex	IBA	cellular component
GO:0017070	U6 snRNA binding	IBA	molecular function
GO:0036002	pre-mRNA binding	IBA	molecular function
GO:0071006	U2-type catalytic step 1 spliceosome	IBA	cellular component
GO:0046827	positive regulation of protein export from nucleus	IDA	biological process
GO:0042307	positive regulation of protein import into nucleus	IDA	biological process
GO:0071013	catalytic step 2 spliceosome	IDA	cellular component
GO:0036002	pre-mRNA binding	IDA	molecular function
GO:0033120	positive regulation of RNA splicing	IDA	biological process
GO:0017070	U6 snRNA binding	IDA	molecular function
GO:0000398	mRNA splicing, via spliceosome	IC	biological process
GO:0071007	U2-type catalytic step 2 spliceosome	IDA	cellular component
GO:0045292	mRNA cis splicing, via spliceosome	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005681	spliceosomal complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008380	RNA splicing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006397	mRNA processing	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0000398	mRNA splicing, via spliceosome	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0035690	cellular response to drug	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0048306	calcium-dependent protein binding	IPI	molecular function
GO:0003723	RNA binding	HDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa03040	Spliceosome

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray