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Slc25a19 Gene Detail
Summary
  • Symbol
    Slc25a19
  • Name
    solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
  • Synonyms
    2900089E13Rik, DNC, MUP1, TPC
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914533
    NCBI Gene: 67283
  • Gene Overview
    MyGene.info: SLC25A19
Location & Maps
more
  • Sequence Map
    Chr11:115614178-115628281 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      14104 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 80.91 cM, cytoband E2
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC25A19, solute carrier family 25 member 19
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SLC25A19, solute carrier family 25 member 19
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DNC, MCPHA, MUP1, THMD3, THMD4, TPC
  • Links
    NCBI Gene ID: 60386
    neXtProt AC: NX_Q9HC21

  • Chr Location
    17q25.3; chr17:75272980-75289957 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with Slc25a19 mouse models; 2 with human SLC25A19 associations

Human Disease Mouse Models
       Microcephaly, Amish Type; MCPHA   OMIM: 607196 View 1 model
       Thiamine Metabolism Dysfunction Syndrome 4 (bilateral Striatal Degeneration and Progressive Polyneuropathy Type); THMD4   OMIM: 613710
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
    15 phenotypes from 1 allele in 1 genetic background
    2 images
    8 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
    49
  • Gene trapped
    45
  • Targeted
    4
  • Incidental Mutations
    Mutagenetix , APF
Homozygous mutation of this gene results in lethality by E12, neural tube closure defects resulting in exencephaly and microcephaly, growth arrest, anemia, elevated alpha-ketoglutarate in amniotic fluid, and reduced thiamine pyrophosphate content in mitochondria.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    7
  • GO References
    5
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
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
    6
  • Tissues
    5
  • cDNA Data
    15
  • Literature Summary
    2
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000003476 VEGA Gene Model | MGI Sequence Detail 14104 C57BL/6J ±  kb
transcript OTTMUST00000007425 VEGA | MGI Sequence Detail 2307 Not Applicable  
polypeptide OTTMUSP00000003574 VEGA | MGI Sequence Detail 318 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    115 from dbSNP Build 142
Protein
Information
less
  • UniProt
    7 Sequences
  • Protein Ontology
    PR:000015014 mitochondrial thiamine pyrophosphate carrier
  • InterPro Domains
    IPR023395 Mitochondrial carrier domain
    IPR002067 Mitochondrial carrier protein
    IPR018108 Mitochondrial substrate/solute carrier
Molecular
Reagents
less
  • All nucleic 17
    cDNA 16
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 37
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    Phenotypes 8
  • 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:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582
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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Send questions and comments to User Support. 		last database update
09/27/2016
MGI 6.05 		The Jackson Laboratory