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Ttc39b Gene Detail
Summary
  • Symbol
    Ttc39b
  • Name
    tetratricopeptide repeat domain 39B
  • Synonyms
    1810054D07Rik, 9130422G05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917113
    NCBI Gene: 69863
  • Gene Overview
    MyGene.info: TTC39B
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:83220300-83324255 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 39.41 cM, cytoband C3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    946 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917113
 protein coding gene Chr4:83220300-83324309 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028402
 protein coding gene Chr4:82798221-82913636 (-)
A/J MGP_AJ_G0028363
 protein coding gene Chr4:79919047-80026594 (-)
AKR/J MGP_AKRJ_G0028312
 protein coding gene Chr4:82006879-82124986 (-)
BALB/cJ MGP_BALBcJ_G0028383
 protein coding gene Chr4:80153737-80257318 (-)
C3H/HeJ MGP_C3HHeJ_G0028098
 protein coding gene Chr4:82586039-82708139 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028822
 protein coding gene Chr4:86069244-86187879 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026122
 protein coding gene Chr4:75879542-75983754 (-)
CAST/EiJ MGP_CASTEiJ_G0027539
 protein coding gene Chr4:80502228-80612371 (-)
CBA/J MGP_CBAJ_G0028067
 protein coding gene Chr4:88750335-88870361 (-)
DBA/2J MGP_DBA2J_G0028216
 protein coding gene Chr4:79701628-79805272 (-)
FVB/NJ MGP_FVBNJ_G0028182
 protein coding gene Chr4:78722845-78828796 (-)
LP/J MGP_LPJ_G0028316
 protein coding gene Chr4:83150616-83270838 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028211
 protein coding gene Chr4:93833917-93951673 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028859
 protein coding gene Chr4:82059013-82170667 (-)
PWK/PhJ MGP_PWKPhJ_G0027262
 protein coding gene Chr4:78043634-78153884 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027087
 protein coding gene Chr4:79578981-79689772 (-)
WSB/EiJ MGP_WSBEiJ_G0027615
 protein coding gene Chr4:82234730-82345973 (-)



Homology
more
  • Human Ortholog
    TTC39B, tetratricopeptide repeat domain 39B
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TTC39B, tetratricopeptide repeat domain 39B
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C9orf52
  • Links
    NCBI Gene ID: 158219
    neXtProt AC: NX_Q5VTQ0
    UniProt: Q5VTQ0

  • Chr Location
    9p22.3; chr9:15167204-15307360 (-)  GRCh38.p7
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    14 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    9
  • GO References
    3
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
    37
  • Tissues
    2
  • cDNA Data
    54
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038172 Ensembl Gene Model | MGI Sequence Detail 103956 C57BL/6J ±  kb
    transcript ENSMUST00000102823 Ensembl | MGI Sequence Detail 8831 Not Applicable  
    polypeptide ENSMUSP00000099887 Ensembl | MGI Sequence Detail 617 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000031512 tetratricopeptide repeat protein 39B
      (term hierarchy)
    • InterPro Domains
      IPR019412 Inclusion body clearance protein Iml2/Tetratricopeptide repeat protein 39
      IPR011990 Tetratricopeptide-like helical domain superfamily
      IPR019734 Tetratricopeptide repeat
      IPR034305 Tetratricopeptide repeat protein 39B
    Molecular
    Reagents
    less
    • All nucleic 54
      cDNA 54

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:1914069, MGI:2140292, MGI:2140529, MGI:2140564
    References
    more
    • Summaries
      All 42
      Developmental Gene Expression 2
      Gene Ontology 3
      Phenotypes 14
    • 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:235724 Hsieh J, et al., TTC39B deficiency stabilizes LXR reducing both atherosclerosis and steatohepatitis. Nature. 2016 Jul 14;535(7611):303-7
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    01/14/2020
    MGI 6.14     		The Jackson Laboratory