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Ttc8
Gene Detail
 Symbol
Name
ID
Ttc8
tetratricopeptide repeat domain 8
MGI:1923510
Synonyms 0610012F22Rik, BBS8
Feature Type protein coding gene
Genetic Map
Chromosome 12
49.88 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:98920574-98983238 bp, + strand
From VEGA annotation of GRCm38

  62665 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:14988  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ttc8

Human
homologs
Human Homolog TTC8, tetratricopeptide repeat domain 8
NCBI Gene ID 123016
neXtProt AC  NX_Q8TAM2
Human Synonyms  BBS8, RP51
Human Chr (Location)  14q31.3; chr14:88824153-88877996 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TTC8
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation display partial postnatal lethality with slow postnatal weight gain, age related obesity, impaired olfation, loss of cilia from the olfactory epithelium, impaired targeting of olfactory sensory neuron axons, retinal degeneration, and mild renal tubule dilation.
 
Human Diseases Modeled Using Mouse Ttc8 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ttc8 interacts with 179 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process axon guidance, camera-type eye photoreceptor cell differentiation, ...
Component BBSome, cell projection, ...
Function RNA polymerase II repressing transcription factor binding
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (48)    Tissues (14)    Images (36)
Theiler Stages: 22, 23, 24, 28
Assay TypeResults
Immunohistochemistry 12
RNA in situ 36
cDNA source data(36)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(36) cDNA(36)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000023820 (Evidence)
Ensembl Gene ModelENSMUSG00000021013 (Evidence)
Entrez Gene76260 (Evidence)
UniGene282660
DFCITC1578739, TC1627671
DoTSDT.101122085, DT.485871, DT.94261077, DT.97396704
NIA Mouse Gene IndexU014263
Consensus CDS ProjectCCDS26101.1, CCDS26102.1
International Mouse Knockout Project StatusTtc8
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000023820 VEGA Gene Model | MGI Sequence Detail 62665 C57BL/6J ±  kb
transcript OTTMUST00000058183 VEGA | MGI Sequence Detail 2270 Not Applicable 
polypeptide OTTMUSP00000028154 VEGA | MGI Sequence Detail 515 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(799 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011990 Tetratricopeptide-like helical
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR013105 Tetratricopeptide TPR2
Protein Ontology PR:000016783 tetratricopeptide repeat protein 8
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:207969 Chamling X, et al., The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014 Feb;10(2):e1004083
All references(39)
Disease annotation references (1)
Other
accession IDs
MGI:2144973

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory