• Gene id: 90506

Gene Summary

• Gene Symbol: LRRC46   Gene   UCSC   Ensembl
• Gene name: leucine rich repeat containing 46
• Alternate names: leucine-rich repeat-containing protein 46,
• Gene location: 17q21.32 (47831669: 47837718)     Exons: 24     NC_000017.11

Protein Summary

• Protein general information: Q96FV0  
  • Name: Leucine rich repeat containing protein 46
  • Length: 321  
  • Mass: 35340
• Sequence:

  MSGGKSAQGPEEGGVCITEALITKRNLTFPEDGELSEKMFHTLDELQTVRLDREGITTIRNLEGLQNLHSLYLQG
  NKIQQIENLACIPSLRFLSLAGNQIRQVENLLDLPCLQFLDLSENLIETLKLDEFPQSLLILNLSGNSCTNQDGY
  RELVTEALPLLLDLDGQPVVERWISDEEDEASSDEEFPELSGPFCSERGFLKELEQELSRHREHRQQTALTEHLL
  RMEMQPTLTDLPLLPGVPMAGDSSPSATPAQGEETVPEAVSSPQASSPTKKPCSLIPRGHQSSFWGRKGARAATA
  PKASVAEAPSTTKTTAKRSKK

• Structural information:
  • Protein Domains: (142..18-)
    (/note="LRRCT"-)
  • Interpro: IPR001611  IPR003591  IPR032675  
  • Prosite: PS51450
  • STRING: ENSP00000269025
• Other Databases: GeneCards:  LRRC46  Malacards:  LRRC46

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq