• Gene id: 123016

Gene Summary

• Gene Symbol: TTC8   Gene   UCSC   Ensembl
• Aliases: BBS8, RP51
• Gene name: tetratricopeptide repeat domain 8
• Alternate names: tetratricopeptide repeat protein 8, Bardet-Biedl syndrome type 8, TPR repeat protein 8,
• Gene location: 14q31.3 (17523300: 17556754)     Exons: 19     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryot
• OMIM: 608132

Protein Summary

• Protein general information: Q8TAM2  
  • Name: Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet Biedl syndrome 8 protein)
  • Length: 541  
  • Mass: 61534
  • Tissue specificity: Widely expressed.
• Sequence:

  MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTEMVYIDEIDVDQEGIA
  EMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPITGFLRPSTQSGRPGTMEQAIRTPRTAYTARP
  ITSSSGRFVRLGTASMLTSPDGPFINLSRLNLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLL
  RNKNHIEKNALDLAALSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQP
  VTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGSNHFYSDQPEIALRFY
  RRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEEEAADVWYNLGHVAVGIGDTNLAHQCFRLAL
  VNNNNHAEAYNNLAVLEMRKGHVEQARALLQTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHV
  DTQHLIKQLRQHFAML

• Structural information:
  • Interpro: IPR028796  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • DIP: 60359
  • STRING: ENSP00000482306
• Other Databases: GeneCards:  TTC8  Malacards:  TTC8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IBA	cellular component
GO:1905515	non-motile cilium assembly	IBA	biological process
GO:0036064	ciliary basal body	IBA	cellular component
GO:0097730	non-motile cilium	IBA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034464	BBSome	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0034464	BBSome	IDA	cellular component
GO:0001103	RNA polymerase II repressing transcription factor binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0036064	ciliary basal body	IDA	cellular component
GO:0005929	cilium	IDA	cellular component
GO:0034464	BBSome	IDA	cellular component
GO:0060271	cilium assembly	TAS	biological process
GO:0048560	establishment of anatomical structure orientation	IMP	biological process
GO:0050893	sensory processing	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0060170	ciliary membrane	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component

Diseases

Associated diseases	References
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	KEGG:H00418
Bardet-Biedl syndrome	PMID:14520415
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			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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