• Gene id: 55759

Gene Summary

• Gene Symbol: WDR12   Gene   UCSC   Ensembl
• Aliases: YTM1
• Gene name: WD repeat domain 12
• Alternate names: ribosome biogenesis protein WDR12, WD repeat-containing protein 12,
• Gene location: 2q33.2 (202911672: 202874260)     Exons: 13     NC_000002.12
• Gene summary(Entrez): This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein com
• OMIM: 616620

Protein Summary

• Protein general information: Q9GZL7  
  • Name: Ribosome biogenesis protein WDR12 (WD repeat containing protein 12)
  • Length: 423  
  • Mass: 47708
• Sequence:

  MAQLQTRFYTDNKKYAVDDVPFSIPAASEIADLSNIINKLLKDKNEFHKHVEFDFLIKGQFLRMPLDKHMEMENI
  SSEEVVEIEYVEKYTAPQPEQCMFHDDWISSIKGAEEWILTGSYDKTSRIWSLEGKSIMTIVGHTDVVKDVAWVK
  KDSLSCLLLSASMDQTILLWEWNVERNKVKALHCCRGHAGSVDSIAVDGSGTKFCSGSWDKMLKIWSTVPTDEED
  EMEESTNRPRKKQKTEQLGLTRTPIVTLSGHMEAVSSVLWSDAEEICSASWDHTIRVWDVESGSLKSTLTGNKVF
  NCISYSPLCKRLASGSTDRHIRLWDPRTKDGSLVSLSLTSHTGWVTSVKWSPTHEQQLISGSLDNIVKLWDTRSC
  KAPLYDLAAHEDKVLSVDWTDTGLLLSGGADNKLYSYRYSPTTSHVGA

• Structural information:
  • Interpro: IPR020472  IPR012972  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  IPR028599  
  • Prosite: PS00678 PS50082 PS50294
  • PDB: 6N31 6P0Q
  • PDBsum: 6N31 6P0Q
  • STRING: ENSP00000261015
• Other Databases: GeneCards:  WDR12  Malacards:  WDR12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000466	maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0030687	preribosome, large subunit precursor	IBA	cellular component
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IBA	biological process
GO:0070545	PeBoW complex	IBA	cellular component
GO:0070545	PeBoW complex	IDA	cellular component
GO:0070545	PeBoW complex	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:0042254	ribosome biogenesis	IEA	biological process
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0070545	PeBoW complex	IDA	cellular component
GO:0006364	rRNA processing	TAS	biological process
GO:0005654	nucleoplasm	TAS	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:0007219	Notch signaling pathway	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0030687	preribosome, large subunit precursor	IEA	cellular component
GO:0043021	ribonucleoprotein complex binding	IEA	molecular function
GO:0000466	maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0042273	ribosomal large subunit biogenesis	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IEA	biological process
GO:0042273	ribosomal large subunit biogenesis	IC	biological process
GO:0030687	preribosome, large subunit precursor	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0042273	ribosomal large subunit biogenesis	IC	biological process
GO:0051726	regulation of cell cycle	IMP	biological process
GO:0000466	maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process
GO:0000463	maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881