TTC8 (tetratricopeptide repeat domain 8)

2014-11-01  

Identity

HGNC
LOCATION
14q31.3
LOCUSID
ALIAS
BBS8,RP51

Other Information

Locus ID:

NCBI: 123016
MIM: 608132
HGNC: 20087
Ensembl: ENSG00000165533

Variants:

dbSNP: 123016
ClinVar: 123016
TCGA: ENSG00000165533
COSMIC: TTC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165533ENST00000338104A0A0C4DGX9
ENSG00000165533ENST00000345383Q8TAM2
ENSG00000165533ENST00000346301A0A0C4DGH8
ENSG00000165533ENST00000354441Q8TAM2
ENSG00000165533ENST00000358622A0A0C4DFT4
ENSG00000165533ENST00000380656Q8TAM2
ENSG00000165533ENST00000536576A0A0C4DGH8
ENSG00000165533ENST00000553718G3V2W6
ENSG00000165533ENST00000554686H0YJX0
ENSG00000165533ENST00000555057G3V2Z9
ENSG00000165533ENST00000556077Q86U25
ENSG00000165533ENST00000556651G3V324
ENSG00000165533ENST00000557580H0YJQ3
ENSG00000165533ENST00000614125A0A0C4DGX9
ENSG00000165533ENST00000622513A0A0C4DGY3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Cargo trafficking to the periciliary membraneREACTOMER-HSA-5620920
BBSome-mediated cargo-targeting to ciliumREACTOMER-HSA-5620922

References

Pubmed IDYearTitleCitations
145204152003Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.220
204511722010A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.47
194021602009BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.13
194021602009BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.13
208015162011Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.11
190774382009Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.10
287613212017Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.5

Citation

Dessen P

TTC8 (tetratricopeptide repeat domain 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75301/ttc8