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Slc25a12 Gene Detail
Summary
  • Symbol
    Slc25a12
  • Name
    solute carrier family 25 (mitochondrial carrier, Aralar), member 12
  • Synonyms
    B230107K20Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1926080
    NCBI Gene: 78830
  • Gene Overview
    MyGene.info: SLC25A12
  • Alliance
    gene page
Location & Maps
more
  • Sequence Map
    Chr2:71271063-71367749 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser
  • Download
    Sequence
      96687 bp   ±  kb flank

  • Genome Browsers
    VEGA | Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 42.38 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SLC25A12, solute carrier family 25 member 12
  • Vertebrate Orthologs
    8
  • Human Ortholog
    SLC25A12, solute carrier family 25 member 12
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AGC1, ARALAR, EIEE39
  • Links
    NCBI Gene ID: 8604
    neXtProt AC: NX_O75746
    UniProt: O75746

  • Chr Location
    2q31.1; chr2:171783405-171894306 (-)  GRCh38.p7
Human Diseases
more
  • Diseases
    1 with Slc25a12 mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 1 allele in 1 genetic background
    15 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.
Mice homozygous for a null allele show severe growth defects, generalized tremors, postnatal lethality, impaired motor coordination, and CNS dysmyelination associated with decreased synthesis of myelin lipids and a striking reduction in brain aspartate and N-acetylaspartate levels.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    26
  • GO References
    9
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 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
    10
  • Tissues
    6
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000013185 VEGA Gene Model | MGI Sequence Detail 96687 C57BL/6J ±  kb
    transcript OTTMUST00000031854 VEGA | MGI Sequence Detail 6351 Not Applicable  
    polypeptide OTTMUSP00000014191 VEGA | MGI Sequence Detail 677 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      1219 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 14
      cDNA 13
      Primer pair 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139062, MGI:2139433
    References
    more
    • Summaries
      All 48
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 9
      Phenotypes 15
    • 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:243212 Juaristi I, et al., ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate. J Neurochem. 2017 Jul;142(1):132-139
    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
    09/18/2018
    MGI 6.12     		The Jackson Laboratory