• Gene id: 377007

Gene Summary

• Gene Symbol: KLHL30   Gene   UCSC   Ensembl
• Gene name: kelch like family member 30
• Alternate names: kelch-like protein 30, kelch-like 30,
• Gene location: 2q37.3 (238138667: 238152946)     Exons: 8     NC_000002.12

Protein Summary

• Protein general information: Q0D2K2  
  • Name: Kelch like protein 30
  • Length: 578  
  • Mass: 63976
• Sequence:

  MVRNVDDLDFHLPSHAQDMLDGLQRLRSQPKLADVTLLVGGRELPCHRGLLALSSPYFHAMFAGDFAESFSARVE
  LRDVEPAVVGQLVDFVYTGRLTITQGNVEALTRTAARLHFPSVQKVCGRYLQQQLDAANCLGICEFGEQQGLLGV
  AAKAWAFLRENFEAVAREDEFLQLPRERLVTCLAGDLLQVQPEQSRLEALMRWVRHDPQARAAHLPELLSLVHLD
  AVPRPCVQQLLASEPLIQESEACRAALSQGHDGAPLALQQKLEEVLVVVGGQALEEEEAGEEPTPGLGNFAFYNS
  KAKRWMALPDFPDYHKWGFSLAALNNNIYVTGGSRGTKTDTWSTTQAWCFPLKEASWKPVAPMLKPRTNHASAAL
  NGEIYVIGGTTLDVVEVESYDPYTDSWTPVSPALKYVSNFSAAGCRGRLYLVGSSACKYNALALQCYNPVTDAWS
  VIASPFLPKYLSSPRCAALHGELYLIGDNTKKVYVYDPGANLWQKVQSQHSLHENGALVPLGDALYVTGGRWQGM
  EGDYHVEMEAYDTVRDTWTRHGALPRLWLYHGASTVFLDVSKWTQPSGPTQEH

• Structural information:
  • Protein Domains: (33..10-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037-)
    (153..25-)
    (/note="BACK"-)
  • Interpro: IPR011705  IPR017096  IPR000210  IPR015915  IPR006652   IPR030582  IPR011333  
  • Prosite: PS50097
  • STRING: ENSP00000386389
• Other Databases: GeneCards:  KLHL30  Malacards:  KLHL30

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq