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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: TTC8
Gene Tree: Ttc8

Human
homologs
TTC8, tetratricopeptide repeat domain 8
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 123016
neXtProt AC: NX_Q8TAM2

Human Synonyms: BBS8, RP51

Human Chr (Location): 14q31.3; chr14:88824153-88877996 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human TTC8

Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Ttc8 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ttc8 interacts with 179 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 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: (3 records)
Data Summary: Results (48)    Tissues (14)    Images (36)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 12
RNA in situ 36
cDNA source data(36)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ttc8 ; ZFIN ttc8    NEW 
Molecular
reagents
All nucleic(36) cDNA(36)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000023820 (Evidence)
Ensembl Gene Model ENSMUSG00000021013 (Evidence)
Entrez Gene 76260 (Evidence)
UniGene 282660
DFCI TC1578739, TC1627671
DoTS DT.101122085, DT.485871, DT.94261077, DT.97396704
NIA Mouse Gene Index U014263
Consensus CDS Project CCDS26101.1, CCDS26102.1
International Mouse Phenotyping Consortium Status Ttc8
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(44) RefSeq(6) UniProt(2)
Polymorphisms
SNPs within 2kb(799 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR011990 Tetratricopeptide-like helical domain
InterPro IPR019734 Tetratricopeptide repeat
InterPro IPR013105 Tetratricopeptide repeat 2
InterPro IPR013026 Tetratricopeptide repeat-containing domain
InterPro IPR028796 Tetratricopeptide repeat protein 8
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:217667 May-Simera HL, et al., Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. Development. 2015 Feb 1;142(3):555-66
All references(42)
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
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory