• Gene id: 10137

Gene Summary

• Gene Symbol: RBM12   Gene   UCSC   Ensembl
• Aliases: HRIHFB2091, SCZD19, SWAN
• Gene name: RNA binding motif protein 12
• Alternate names: RNA-binding protein 12, SH3/WW domain anchor protein in the nucleus,
• Gene location: 20q11.22 (35664899: 35648924)     Exons: 3     NC_000020.11
• Gene summary(Entrez): This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 20q11.21. Alternative splicing in the 5' UTR results in four trans
• OMIM: 607179

Protein Summary

• Protein general information: Q9NTZ6  
  • Name: RNA binding protein 12 (RNA binding motif protein 12) (SH3/WW domain anchor protein in the nucleus) (SWAN)
  • Length: 932  
  • Mass: 97395
• Sequence:

  MAVVIRLQGLPIVAGTMDIRHFFSGLTIPDGGVHIVGGELGEAFIVFATDEDARLGMMRTGGTIKGSKVTLLLSS
  KTEMQNMIELSRRRFETANLDIPPANASRSGPPPSSGMSSRVNLPTTVSNFNNPSPSVVTATTSVHESNKNIQTF
  STASVGTAPPNMGASFGSPTFSSTVPSTASPMNTVPPPPIPPIPAMPSLPPMPSIPPIPVPPPVPTLPPVPPVPP
  IPPVPSVPPMTPLPPMSGMPPLNPPPVAPLPAGMNGSGAPMNLNNNLNPMFLGPLNPVNPIQMNSQSSVKPLPIN
  PDDLYVSVHGMPFSAMENDVRDFFHGLRVDAVHLLKDHVGRNNGNGLVKFLSPQDTFEALKRNRMLMIQRYVEVS
  PATERQWVAAGGHITFKQNMGPSGQTHPPPQTLPRSKSPSGQKRSRSRSPHEAGFCVYLKGLPFEAENKHVIDFF
  KKLDIVEDSIYIAYGPNGKATGEGFVEFRNEADYKAALCRHKQYMGNRFIQVHPITKKGMLEKIDMIRKRLQNFS
  YDQREMILNPEGDVNSAKVCAHITNIPFSITKMDVLQFLEGIPVDENAVHVLVDNNGQGLGQALVQFKNEDDARK
  SERLHRKKLNGREAFVHVVTLEDMREIEKNPPAQGKKGLKMPVPGNPAVPGMPNAGLPGVGLPSAGLPGAGLPST
  GLPGSAITSAGLPGAGMPSAGIPSAGGEEHAFLTVGSKEANNGPPFNFPGNFGGSNAFGPPIPPPGLGGGAFGDA
  RPGMPSVGNSGLPGLGLDVPGFGGGPNNLSGPSGFGGGPQNFGNGPGSLGGPPGFGSGPPGLGSAPGHLGGPPAF
  GPGPGPGPGPGPIHIGGPPGFASSSGKPGPTVIKVQNMPFTVSIDEILDFFYGYQVIPGSVCLKYNEKGMPTGEA
  MVAFESRDEATAAVIDLNDRPIGSRKVKLVLG

• Structural information:
  • Protein Domains: (304..37-)
    (/note="RRM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (430..50-)
    (/note="RRM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176-)
    (856..93-)
    (/note="RRM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR012677  IPR035979  IPR034591  IPR034594  IPR034855   IPR034856  IPR034854  IPR000504  
  • Prosite: PS50102
  • CDD: cd12745 cd12747 cd12512 cd12749 cd12751
  • PDB: 1WEL 2CPY 2DNN 2EK1 2EK6
  • PDBsum: 1WEL 2CPY 2DNN 2EK1 2EK6
  • STRING: ENSP00000363228
• Other Databases: GeneCards:  RBM12  Malacards:  RBM12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0003723	RNA binding	IBA	molecular function
GO:0043484	regulation of RNA splicing	IBA	biological process
GO:0003676	nucleic acid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)