• Gene id: 84942

Gene Summary

• Gene Symbol: WDR73   Gene   UCSC   Ensembl
• Aliases: GAMOS, GAMOS1, HSPC264
• Gene name: WD repeat domain 73
• Alternate names: WD repeat-containing protein 73, FLJ00296 protein,
• Gene location: 15q25.2 (84654342: 84639284)     Exons: 9     NC_000015.10
• Gene summary(Entrez): The protein encoded by this gene is thought to contain multiple WD40 repeats. WD40 repeats are motifs that contain 40-60 amino acids, and usually end with Trp-Asp (WD). This protein is found in the cytoplasm during interphase, but accumulates at the spind
• OMIM: 616144

SNPs

rs144944885

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000022.11   g.50776483del
NC_000022.10   g.51214911del
NW_004070876.1   g.11558del|SEQ=[G/-]|GENE=RABL2B
RPL23AP82   284942

Protein Summary

• Protein general information: Q6P4I2  
  • Name: WD repeat containing protein 73
  • Length: 378  
  • Mass: 41685
  • Tissue specificity: Expressed in kidney and brain. In the kidney, expressed in glomeruli, most probably in podocytes, and in tubules (at protein level). In the brain, expressed in the cerebellum, with high levels in Purkinje cells and their projecting axo
• Sequence:

  MDPGDDWLVESLRLYQDFYAFDLSGATRVLEWIDDKGVFVAGYESLKKNEILHLKLPLRLSVKENKGLFPERDFK
  VRHGGFSDRSIFDLKHVPHTRLLVTSGLPGCYLQVWQVAEDSDVIKAVSTIAVHEKEESLWPRVAVFSTLAPGVL
  HGARLRSLQVVDLESRKTTYTSDVSDSEELSSLQVLDADTFAFCCASGRLGLVDTRQKWAPLENRSPGPGSGGER
  WCAEVGSWGQGPGPSIASLGSDGRLCLLDPRDLCHPVSSVQCPVSVPSPDPELLRVTWAPGLKNCLAISGFDGTV
  QVYDATSWDGTRSQDGTRSQVEPLFTHRGHIFLDGNGMDPAPLVTTHTWHPCRPRTLLSATNDASLHVWDWVDLC
  APR

• Structural information:
  • Interpro: IPR015943  IPR001680  IPR036322  IPR042795  
  • STRING: ENSP00000387982
• Other Databases: GeneCards:  WDR73  Malacards:  WDR73

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0005829	cytosol	IBA	colocalizes with
GO:0000922	spindle pole	IBA	colocalizes with
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000922	spindle pole	IEA	cellular component
GO:0032154	cleavage furrow	IEA	cellular component
GO:0005819	spindle	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0032154	cleavage furrow	IDA	colocalizes with
GO:0000922	spindle pole	IDA	colocalizes with
GO:0005829	cytosol	IDA	colocalizes with
GO:0003674	molecular_function	ND	molecular function
GO:0006997	nucleus organization	IMP	biological process
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process

Diseases

Associated diseases	References
Galloway-Mowat syndrome	KEGG:H01722
Galloway-Mowat syndrome	KEGG:H01722
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)