TTC8 (tetratricopeptide repeat domain 8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
123016
Gene name Gene Name - the full gene name approved by the HGNC.
Tetratricopeptide repeat domain 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TTC8
Synonyms (NCBI Gene) Gene synonyms aliases
BBS8, RP51
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(10)
SNP ID Visualize variation Clinical significance Consequence
rs119103286 G>A Likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs140698625 C>T Likely-pathogenic, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs142938748 A>G Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant, non coding transcript variant
rs200113889 C>A Benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs587777806 GAGTAT>- Pathogenic Intron variant, inframe deletion, 5 prime UTR variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(186)
miRTarBase ID miRNA Experiments Reference
MIRT002556 hsa-miR-373-3p Microarray 15685193
MIRT002556 hsa-miR-373-3p Microarray;Other 15685193
MIRT022749 hsa-miR-124-3p Microarray 18668037
MIRT048124 hsa-miR-197-3p CLASH 23622248
MIRT038637 hsa-miR-125a-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(50)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0001736 Process Establishment of planar polarity IEA
GO:0005515 Function Protein binding IPI 14520415, 16327777, 17574030, 18762586, 24550735, 24939912, 25552655
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608132 20087 ENSG00000165533
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8TAM2
Protein name Tetratricopeptide repeat protein 8 (TPR repeat protein 8) (Bardet-Biedl syndrome 8 protein)
Protein function The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This cilio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13176 TPR_7 320 → 353 Tetratricopeptide repeat Repeat
PF13432 TPR_16 427 → 490 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed.
Sequence 
MSSEMEPLLLAWSYFRRRKFQLCADLCTQMLEKSPYDQEPDPELPVHQAAWILKARALTE
MVYIDEIDVDQEGIAEMMLDENAIAQVPRPGTSLKLPGTNQTGGPSQAVRPITQAGRPIT
GFLRPSTQSGRPGTMEQAIRTPRTAYTARPITSSSGRFVRLGTASMLTSPDGPFINLSRL
NLTKYSQKPKLAKALFEYIFHHENDVKTIHLEDVVLHLGIYPFLLRNKNHIEKNALDLAA
LSTEHSQYKDWWWKVQIGKCYYRLGMYREAEKQFKSALKQQEMVDTFLYLAKVYVSLDQP
VTALNLFKQGLDKFPGEVTLLCGIARIYEEMNNMSSAAEYYKEVLKQDNTHVEAIACIGS
NHFYSDQPEIALRFYRRLLQMGIYNGQLFNNLGLCCFYAQQYDMTLTSFERALSLAENEE
EAADVWYNLGHVAVGIGDTNLAHQCFRLALVNNNNHAEAYNNLAVLEMRKGHVEQARALL
QTASSLAPHMYEPHFNFATISDKIGDLQRSYVAAQKSEAAFPDHVDTQHLIKQLRQHFAM
L
Sequence length 541
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    BBSome-mediated cargo-targeting to cilium
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bardet-Biedl Syndrome bardet-biedl syndrome, bardet-biedl syndrome 8 rs119103286, rs587777808, rs587777806, rs587777807 N/A
retinal dystrophy Retinal dystrophy rs119103286, rs587777809 N/A
Retinitis Pigmentosa retinitis pigmentosa 51 rs119103286, rs587777809, rs876661403 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Hypertension Ischemic stroke in hypertension N/A N/A GWAS
Macular dystrophy macular dystrophy N/A N/A ClinVar
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bardet Biedl Syndrome Associate 20451172, 28761321
Breast Neoplasms Associate 30947698
Leber Congenital Amaurosis Associate 30416334
Neoplastic Syndromes Hereditary Associate 30416334, 30947698
Retinal Dystrophies Associate 30416334
Retinitis Pigmentosa Associate 20451172, 37322672