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; chr14:89290978-89344335 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human TTC8

Alleles and phenotypes

All alleles(4) : Targeted(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	axon guidance, camera-type eye photoreceptor cell differentiation, ...
Component	BBSome, cell projection, ...
Function	molecular_function

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (48)    Tissues (14)    Images (36)
Theiler Stages: 22, 23, 24, 28

Assay Type	Results
Immunohistochemistry	12
RNA in situ	36

cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(38) cDNA(38)
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 Knockout Project Status	Ttc8

Sequences

Length	Strain/Species
genomic	OTTMUSG00000023820	VEGA Gene Model | MGI Sequence Detail	62665	C57BL/6J
transcript	OTTMUST00000058183	VEGA | MGI Sequence Detail	2270	Not Applicable
polypeptide	OTTMUSP00000028154	VEGA | MGI Sequence Detail	515	Not Applicable

All sequences(42) RefSeq(4) UniProt(2)

Polymorphisms

SNPs(558 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:193003 Zhang Q, et al., Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem. 2012 Jun 8;287(24):20625-35
All references(36)

Other accession IDs

MGI:2144973