• Gene id: 79703

Gene Summary

• Gene Symbol: C11orf80   Gene   UCSC   Ensembl
• Aliases: HYDM4, TOP6BL, TOPOVIBL
• Gene name: chromosome 11 open reading frame 80
• Alternate names: type 2 DNA topoisomerase 6 subunit B-like, type 2 DNA topoisomerase VI subunit B-like,
• Gene location: 11q13.2 (66744735: 66843515)     Exons: 17     NC_000011.10
• OMIM: 616109

Protein Summary

• Protein general information: Q8N6T0  
  • Name: Type 2 DNA topoisomerase 6 subunit B like (Type 2 DNA topoisomerase VI subunit B like) (TOPOVIBL)
  • Length: 577  
  • Mass: 64047
  • Tissue specificity: Detected in lung, spleen,colon and in skeletal muscle. Expressed in the ovaries, Fallopian tubes and uterus (PubMed
• Sequence:

  MEGTAVAVFEILRFLIIHWKCDIDVSKGALLEGQLVISIEGLNSKHQANALHCVTTVASAGSLFGGMVLKKFLKE
  IQSILPGISAKLTWTSEEGSYSQDMTGVTPFQMIFEVDEKPRTLMTDCLVIKHFLRKIIMVHPKVRFHFSVKVNG
  ILSTEIFGVENEPTLNLGNGIALLVDSQHYVRPNFGTIESHCSRIHPVLGHPVMLFIPEDVAGMDLLGELILTPA
  AALCPSPKVSSNQLNRISSVSIFLYGPLGLPLILSTWEQPMTTFFKDTSSLVDWKKYHLCMIPNLDLNLDRDLVL
  PDVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVD
  KVLEQHHQAAKAQQKLQASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHC
  SCEVKQQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEAT
  AAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLSPSPGP

• Structural information:
  • Interpro: IPR028040  
  • STRING: ENSP00000354227
• Other Databases: GeneCards:  C11orf80  Malacards:  C11orf80

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042138	meiotic DNA double-strand break formation	IBA	biological process
GO:0007131	reciprocal meiotic recombination	IBA	biological process
GO:0042138	meiotic DNA double-strand break formation	ISS	biological process
GO:0007131	reciprocal meiotic recombination	ISS	biological process
GO:0042138	meiotic DNA double-strand break formation	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 21412036
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21412036	Cryptorchidism			23 (4 controls, 19 cases)	Male infertility	GSE25518 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R