• Gene id: 60492

Gene Summary

• Gene Symbol: CCDC90B   Gene   UCSC   Ensembl
• Aliases: MDS011, MDS025
• Gene name: coiled-coil domain containing 90B
• Alternate names: coiled-coil domain-containing protein 90B, mitochondrial,
• Gene location: 11q14.1 (83286406: 83259092)     Exons: 10     NC_000011.10

Protein Summary

• Protein general information: Q9GZT6  
  • Name: Coiled coil domain containing protein 90B, mitochondrial
  • Length: 254  
  • Mass: 29506
• Sequence:

  MNSRQAWRLFLSQGRGDRWVSRPRGHFSPALRREFFTTTTKEGYDRRPVDITPLEQRKLTFDTHALVQDLETHGF
  DKTQAETIVSALTALSNVSLDTIYKEMVTQAQQEITVQQLMAHLDAIRKDMVILEKSEFANLRAENEKMKIELDQ
  VKQQLMHETSRIRADNKLDINLERSRVTDMFTDQEKQLMETTTEFTKKDTQTKSIISETSNKIDAEIASLKTLME
  SNKLETIRYLAASVFTCLAIALGFYRFWK

• Structural information:
  • Interpro: IPR024461  
  • PDB: 6H9M
  • PDBsum: 6H9M
  • STRING: ENSP00000434724
• Other Databases: GeneCards:  CCDC90B  Malacards:  CCDC90B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005739	mitochondrion	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray