• Gene id: 158219

Gene Summary

• Gene Symbol: TTC39B   Gene   UCSC   Ensembl
• Aliases: C9orf52
• Gene name: tetratricopeptide repeat domain 39B
• Alternate names: tetratricopeptide repeat protein 39B, TPR repeat protein 39B,
• Gene location: 9p22.3 (15307359: 15163621)     Exons: 27     NC_000009.12
• OMIM: 613574

Protein Summary

• Protein general information: Q5VTQ0  
  • Name: Tetratricopeptide repeat protein 39B (TPR repeat protein 39B)
  • Length: 682  
  • Mass: 76956
• Sequence:

  MDAVLACRLRGRGNRVAALRPRPRPGGSAGPSPFALLCAGLSPEPRAGVGSEFPAWFLGGSSQRRNMALLGSRAE
  LEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNK
  FTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSL
  EQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGG
  VKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNV
  AEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCISVQEEWKQFHHLCYWELMWINVFQQNWMQA
  YYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSA
  SLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQR
  PLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHL
  WRKPSSD

• Structural information:
  • Interpro: IPR019412  IPR019734  IPR034305  
  • DIP: 62094
  • STRING: ENSP00000422496
• Other Databases: GeneCards:  TTC39B  Malacards:  TTC39B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090181	regulation of cholesterol metabolic process	IBA	biological process
GO:0042632	cholesterol homeostasis	IBA	biological process
GO:0010887	negative regulation of cholesterol storage	IBA	biological process
GO:0010874	regulation of cholesterol efflux	IBA	biological process
GO:0090181	regulation of cholesterol metabolic process	ISS	biological process
GO:0042632	cholesterol homeostasis	ISS	biological process
GO:0010887	negative regulation of cholesterol storage	ISS	biological process
GO:0010874	regulation of cholesterol efflux	ISS	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042632	cholesterol homeostasis	IEA	biological process
GO:0090181	regulation of cholesterol metabolic process	IEA	biological process
GO:0010874	regulation of cholesterol efflux	IEA	biological process
GO:0010887	negative regulation of cholesterol storage	IEA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq