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Ttc19 Gene Detail
Summary
  • Symbol
    Ttc19
  • Name
    tetratricopeptide repeat domain 19
  • Synonyms
    2010204O13Rik, 2810460C24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1920045
    NCBI Gene: 72795
Location & Maps
more
  • Sequence Map
    Chr11:62281473-62328451 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      46979 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 38.02 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    TTC19, tetratricopeptide repeat domain 19
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TTC19, tetratricopeptide repeat domain 19
    Orthology source: HomoloGene, HGNC
  • Synonyms
    2010204O13Rik, MC3DN2
  • Links
    NCBI Gene ID: 54902
    neXtProt AC: NX_Q6DKK2

  • Chr Location
    17p12; chr17:15999380-16029409 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human TTC19 associations

Human Disease Mouse Models
       Mitochondrial Complex III Deficiency, Nuclear Type 2; MC3DN2   OMIM: 615157
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    6 phenotype references
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    2
  • Genomic Mutations
    1 involving Ttc19
  • Incidental Mutations
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005850 VEGA Gene Model | MGI Sequence Detail 46979 C57BL/6J ±  kb
transcript OTTMUST00000013013 VEGA | MGI Sequence Detail 3410 Not Applicable  
polypeptide OTTMUSP00000006049 VEGA | MGI Sequence Detail 365 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    204 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000029831 tetratricopeptide repeat protein 19, mitochondrial
  • InterPro Domains
    IPR011990 Tetratricopeptide-like helical domain
    IPR019734 Tetratricopeptide repeat
    IPR013026 Tetratricopeptide repeat-containing domain
Molecular
Reagents
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  • All nucleic 11
    cDNA 11

    Microarray probesets 5
Other
Accession IDs
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MGI:1923943, MGI:2144210
References
more
  • Summaries
    All 27
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 6
  • 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:173130 Ghezzi D, et al., Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2011 Mar;43(3):259-63

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory