• Gene id: 80185

Gene Summary

• Gene Symbol: TTI2   Gene   UCSC   Ensembl
• Aliases: C8orf41, MRT39
• Gene name: TELO2 interacting protein 2
• Alternate names: TELO2-interacting protein 2, Tel2 interacting protein 2 homolog,
• Gene location: 8p12 (33513134: 33498721)     Exons: 8     NC_000008.11
• Gene summary(Entrez): This gene encodes a regulator of the DNA damage response. The protein is a component of the Triple T complex (TTT) which also includes telomere length regulation protein and TELO2 interacting protein 1. The TTT complex is involved in cellular resistance t
• OMIM: 104770

Protein Summary

• Protein general information: Q6NXR4  
  • Name: TELO2 interacting protein 2
  • Length: 508  
  • Mass: 56915
• Sequence:

  MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARL
  RGMPETLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPV
  YIFAITHSLEQPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAI
  KHVFSWTLQQVTRPWLSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHL
  YTPEHHLIQAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHRLLLRRTYARNLPAFVNRLGI
  LTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESV
  KSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT

• Structural information:
  • Interpro: IPR016024  IPR018870  
  • STRING: ENSP00000478396
• Other Databases: GeneCards:  TTI2  Malacards:  TTI2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005654	nucleoplasm	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0070209	ASTRA complex	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Autosomal recessive mental retardation	KEGG:H00768
Autosomal recessive mental retardation	KEGG:H00768
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881