• Gene id: 127002

Gene Summary

• Gene Symbol: ATXN7L2   Gene   UCSC   Ensembl
• Gene name: ataxin 7 like 2
• Alternate names: ataxin-7-like protein 2, ataxin 7-like 1,
• Gene location: 1p13.3 (109483904: 109492803)     Exons: 14     NC_000001.11

Protein Summary

• Protein general information: Q5T6C5  
  • Name: Ataxin 7 like protein 2
  • Length: 722  
  • Mass: 77181
• Sequence:

  MAVRERAAAAMAALERRVPSLDDFAGQSWSSWVERADLPAADGAELEESSKNTKKLDAMTLIKEDMSIFGHCPAH
  DDFYLVVCNHCSQVVKPQAFQKHCERRHGPLSKLYGRAPPPPPAPASSQKCHVVNGQGPACRAPGSTKTSSREKG
  QGSRSRGHQPPEKTQKDNLCQPGGLTKDSPGKPPMAPPSKEPPGRENIEIIPSEGSSHWAEGSPPEKEPSGTRLP
  PKTHRKMARKECDLNRQCGVINPETKKICTRLLTCKIHSVHQRREVQGRAKDFDVLVAELKANSRKGESPKEKSP
  GRKEQVLERPSQELPSSVQVVAAVAAPSSTFSVRAKQTYPYCALPRSRASSESELDDEGPCGGDGDPGLFPFPMP
  RGGTQASSEESEEEGTSDDLHPPPDCHYATRPPRPQAFCTFGSRLVSPGCYVFSRRLDRFCSALSSMLERHLSTH
  MWKKIPPAAEPPAHLVNSPLSAPLSPSSTGTCPRLPGPTLRPACPASMPPTKDNLVPSYPAGSPSVAAACSQAEC
  MGGSQAITSPLPANTPSPSFSKLPPSKASKSSKGKDGVEVEAPSRKRKLSPGPTTLKRTCILEPTGKGKPSGCRG
  LSAKTKTALSMGLNGTMGPRVKRAGPLDCRGSPHQLPTPVKASQLENRGAAGHPAKALPTNCLSEEEVAKKRKNL
  ATYCRPVKAKHCQAGAPADVACSVRRKKPGPALAFEEKCSTLKSKAH

• Structural information:
  • Protein Domains: (230..29-)
    (/note="SCA7-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00838"-)
  • Interpro: IPR013243  
  • Prosite: PS51505
  • STRING: ENSP00000358886
• Other Databases: GeneCards:  ATXN7L2  Malacards:  ATXN7L2

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray