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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
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: HomoloGene, HGNC
  • Synonyms
    AGC1, ARALAR, EIEE39
  • Links
    NCBI Gene ID: 8604
    neXtProt AC: NX_O75746

  • Chr Location
    2q24; chr2:171783405-171894306 (-)  GRCh38.p2
Human Diseases
more
  • Diseases
    1 with human SLC25A12 associations

Human Disease Mouse Models
       Epileptic Encephalopathy, Early Infantile, 39; EIEE39   OMIM: 612949
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    13 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
    125
  • Chemically induced (other)
    1
  • Gene trapped
    122
  • Targeted
    2
  • Genomic Mutations
    1 involving Slc25a12
  • Incidental Mutations
    Mutagenetix , APF , CvDC
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
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  • All GO Annotations
    19
  • GO References
    8
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
    10
  • Tissues
    6
  • cDNA Data
    11
  • Literature Summary
    3
Interactions
less
Sequences &
Gene Models
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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
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  • SNPs within 2kb
    1219 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000015007 calcium-binding mitochondrial carrier protein Aralar1
  • InterPro Domains
    IPR018247 EF-Hand 1, calcium-binding site
    IPR002048 EF-hand domain
    IPR011992 EF-hand domain pair
    IPR023395 Mitochondrial carrier domain
    IPR002067 Mitochondrial carrier protein
    IPR018108 Mitochondrial substrate/solute carrier
Molecular
Reagents
less
  • All nucleic 13
    cDNA 12
    Primer pair 1

    Microarray probesets 5
Other
Accession IDs
less
MGI:2139062, MGI:2139433
References
more
  • Summaries
    All 42
    Developmental Gene Expression 3
    Gene Ontology 8
    Phenotypes 13
  • 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:216575 Lindsay KJ, et al., Pyruvate kinase and aspartate-glutamate carrier distributions reveal key metabolic links between neurons and glia in retina. Proc Natl Acad Sci U S A. 2014 Oct 28;111(43):15579-84
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
09/20/2016
MGI 6.05 		The Jackson Laboratory