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Ttc8 Gene Detail
Summary
  • Symbol
    Ttc8
  • Name
    tetratricopeptide repeat domain 8
  • Synonyms
    0610012F22Rik, BBS8
  • Feature Type
    protein coding gene
  • IDs
    MGI:1923510
    NCBI Gene: 76260
  • Gene Overview
    MyGene.info: TTC8
Location & Maps
more
  • Sequence Map
    Chr12:98920574-98983238 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      62665 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 49.88 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TTC8, tetratricopeptide repeat domain 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    TTC8, tetratricopeptide repeat domain 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BBS8, RP51
  • Links
    NCBI Gene ID: 123016
    neXtProt AC: NX_Q8TAM2

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

  • HomoloGene
    Vertebrate Homology Class 14988
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: TTC8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ttc8 mouse models; 2 with human TTC8 associations

Human Disease Mouse Models
       Bardet-Biedl Syndrome 8; BBS8   OMIM: 615985 View 1 model
       Retinitis Pigmentosa 51; RP51   OMIM: 613464
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 1 genetic background
    2 phenotypes from multigenic genotypes
    7 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically induced (other)
    1
  • Targeted
    4
  • Genomic Mutations
    1 involving Ttc8
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    799 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000016783 tetratricopeptide repeat protein 8
  • InterPro Domains
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
less
  • All nucleic 36
    cDNA 36

    Microarray probesets 3
Other
Accession IDs
less
MGI:2144973
References
more
  • Summaries
    All 40
    Developmental Gene Expression 4
    Diseases 1
    Gene Ontology 15
    Phenotypes 7
  • 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:224407 Murphy D, et al., Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. Mol Cell Biol. 2015 May;35(10):1860-70

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
09/27/2016
MGI 6.05
The Jackson Laboratory