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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
  • Alliance
    genome feature page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:71104614-71198125 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 42.38 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2894 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1926080
 protein coding gene Chr2:71101407-71198125 (-)
129S1/SvImJ ENSMUSG00200035883
 protein coding gene Chr2:68160104-68257100 (-)
A/J ENSMUSG00195021560
 protein coding gene Chr2:68304767-68400699 (-)
AKR/J ENSMUSG00220038494
 protein coding gene Chr2:68269505-68365437 (-)
BALB/cJ ENSMUSG00180036009
 protein coding gene Chr2:68260063-68357033 (-)
C3H/HeJ ENSMUSG00175033785
 protein coding gene Chr2:68372158-68468079 (-)
C57BL/6NJ ENSMUSG00215023790
 protein coding gene Chr2:68198334-68295289 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023643
 protein coding gene Chr2:65807756-65903415 (-)
CAST/EiJ ENSTCUG00005009097
 protein coding gene Chr2:67679949-67776406 (-)
CBA/J ENSMUSG00210035887
 protein coding gene Chr2:68419328-68516264 (-)
DBA/2J ENSMUSG00185040398
 protein coding gene Chr2:68254970-68351918 (-)
FVB/NJ ENSMUSG00205020192
 protein coding gene Chr2:67715175-67811110 (-)
JF1/MsJ ENSUMUG00000004471
 protein coding gene Chr2:67914160-68010138 (-)
LP/J ENSMUSG00230020476
 protein coding gene Chr2:70060286-70157236 (-)
NOD/ShiLtJ ENSMUSG00190033926
 protein coding gene Chr2:68337864-68433794 (-)
NZO/HlLtJ ENSMUSG00225015162
 protein coding gene Chr2:77802587-77899534 (-)
PWK/PhJ ENSLUMG00010033155
 protein coding gene Chr2:68141831-68241344 (-)
SPRET/EiJ ENSMSPG00010035190
 protein coding gene Chr2:69543085-69635347 (-)
WSB/EiJ ENSIUOG00005017863
 protein coding gene Chr2:68384034-68480370 (-)



Homology
more
  • Human Ortholog
    SLC25A12, solute carrier family 25 member 12
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SLC25A12, solute carrier family 25 member 12
  • Synonyms
    AGC1, ARALAR, DEE39, EIEE39
  • Links
    NCBI Gene ID: 8604
    UniProt: O75746

  • Chr Location
    2q31.1; chr2:171781400-171999859 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Slc25a12 mouse models; 3 with human SLC25A12 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
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
less
  • Phenotype Summary
    33 phenotypes from 2 alleles in 2 genetic backgrounds
    28 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.
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
    71
  • GO References
    16
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    607
  • Tissues
    6
  • cDNA Data
    12
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 78830 NCBI Gene Model | MGI Sequence Detail 93512 C57BL/6J ±  kb
    transcript NM_172436 RefSeq | MGI Sequence Detail 2949 C57BL/6  
    polypeptide Q8BH59 UniProt | EBI | MGI Sequence Detail 677 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000015007 electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial
      (term hierarchy)
    • InterPro Domains
      IPR039800 Calcium uptake protein 1/2/3
      IPR018247 EF-Hand 1, calcium-binding site
      IPR002048 EF-hand domain
      IPR011992 EF-hand domain pair
      IPR002067 Mitochondrial carrier protein
      IPR023395 Mitochondrial carrier protein domain superfamily
      IPR018108 Mitochondrial carrier protein, transmembrane region
      IPR051028 Mitochondrial Solute Carrier
    • GlyGen
      Q8BH59 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 14
      Primer pair 1
      Antibodies 1

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:2139062, MGI:2139433
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 16
      Phenotypes 28
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory