• Gene id: 145645

Gene Summary

• Gene Symbol: TERB2   Gene   UCSC   Ensembl
• Aliases: C15orf43
• Gene name: telomere repeat binding bouquet formation protein 2
• Alternate names: telomere repeats-binding bouquet formation protein 2,
• Gene location: 15q21.1 (44956673: 44979228)     Exons: 8     NC_000015.10
• OMIM: 617131

Protein Summary

• Protein general information: Q8NHR7  
  • Name: Telomere repeats binding bouquet formation protein 2
  • Length: 220  
  • Mass: 25316
• Sequence:

  MFQGQRGWFCGSVSQDLRQFWVAEGGTISDPRAADFLFSCDASHPDTLRIYQSLDYIEDNATVFHAYYLSAVANA
  KIKNSVALGHFILPPACLQKEIRRKIGSFIWEQDQHFLIEKHDEVTPNEIKTLRENSELATEHKKELSKSPEKHF
  IRTPVVEKQMYFPLQNYPVNNMVTGYISIDAMKKFLGELHDFIPGTSGYLAYHVQNEINMSAIKNKLKRK

• Structural information:
  • Interpro: IPR028065  
  • PDB: 6GNX 6GNY 6J07 6J08
  • PDBsum: 6GNX 6GNY 6J07 6J08
  • STRING: ENSP00000340644
• Other Databases: GeneCards:  TERB2  Malacards:  TERB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005637	nuclear inner membrane	ISS	cellular component
GO:0070197	meiotic attachment of telomere to nuclear envelope	ISS	biological process
GO:0045141	meiotic telomere clustering	ISS	biological process
GO:0007129	synapsis	ISS	biological process
GO:0000784	nuclear chromosome, telomeric region	ISS	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0007129	synapsis	IEA	biological process
GO:0045141	meiotic telomere clustering	IEA	biological process
GO:0070197	meiotic attachment of telomere to nuclear envelope	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IEA	cellular component
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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