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FLASH GENE
Symbol SLC25A12 contributors: mct - updated : 11-09-2019
HGNC name solute carrier family 25 (mitochondrial carrier, Aralar), member 12
HGNC id 10982
Corresponding disease
AUTS5 autism spectrum disorder, 5
EIEE39 epileptic encephalopathy, early infantile, 39
Location 2q24-q31      Physical location : 172.639.914 - 172.750.813
Synonym name calcium binding mitochondrial carrier superfamily member Aralar
Synonym symbol(s) ARALAR, ARALAR1, AGC1
DNA
TYPE functioning gene
STRUCTURE 109.00 kb     18 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map cen - D2S294 - D2S2284 - [D2S177 - D2S333 ]- D2S326 - qter
Authors Crackower (99)
Text [SLC25A12 ]
Physical map
PPIG 2q31.1 peptidyl-prolyl isomerase G (cyclophilin G) LOC129881 2q31.1 hypothetical LOC129881 MGC22679 2q31.1 hypothetical protein MGC22679 LOC389057 2 similar to hypothetical protein MGC22679 AF357534 2q31.1 thioredoxin 1 pseudogene 7 LOC391459 2 LOC391459 SSB 2q31.1 Sjogren syndrome antigen B (autoantigen LA) HSPC133 2q31.1 HSPC133 protein LOC344287 2q31.1 similar to hypothetical protein A130030D10 KIAA2024 2q31.1 similar to F10G7.10.p MYO3B 2q31.1-q31.2 myosin IIIB LOC389058 2 similar to zinc finger protein Sp5 LOC285140 2q31.1 eukaryotic translation initiation factor 2 beta-like pseudogene LOC389059 2 LOC389059 LOC285141 2q31.1 similar to CG14853-PB GAD1 2q31 glutamate decarboxylase 1 (brain, 67kDa) GORASP2 2p24.3-q21.3 golgi reassembly stacking protein 2, 55kDa TLK1 8p22-p12 tousled-like kinase 1 FLJ13984 2q31.1 hypothetical protein FLJ13984 FLJ13096 2q31.1 hypothetical protein FLJ13096 MRPS29P2 2q31.2 mitochondrial ribosomal protein S29 pseudogene 2 LOC389060 2 similar to ribosomal protein S15 CYBRD1 2q31 cytochrome b reductase 1 LOC391460 2 similar to 60S ribosomal protein L21 DNCI2 2q24-q31 dynein, cytoplasmic, intermediate polypeptide 2 SLC25A12 2q24-q31 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 HAT1 2q31.2-q33.1 histone acetyltransferase 1 MAP1D 2q31.1 methionine aminopeptidase 1D DLX1 2q32 distal-less homeo box 1 DLX2 2q32 distal-less homeo box 2 ITGA6 2q22-q31 integrin, alpha 6 PDK1 2q31.1 pyruvate dehydrogenase kinase, isoenzyme 1 CGEF2 2q31 pyruvate dehydrogenase kinase, isoenzyme 1 ZAK 2q24.2 pyruvate dehydrogenase kinase, isoenzyme 1 LOC391461 2 similar to ribosomal protein S2; 40S ribosomal protein S2 CDCA7 2q31 cell division cycle associated 7 LOC344178 2q31.1 similar to peptidylprolyl isomerase A (cyclophilin A) LOC344181 2q31.1 similar to ribosomal protein L5; 60S ribosomal protein L5 SP3 2q31 Sp3 transcription factor
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Nervousbrain   lowly
Urinarykidney   lowly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal domain containing four calcium binding EF-hands
  • six putative transmembrane domains
  • a C terminal with three tandemly repeated the mitochondrial carrier protein domain superfamily
  • HOMOLOGY
    Homologene
    FAMILY solute carrier family 25,mitochondrial
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,interspace
    text integral membrane protein,N terminal region in the interspace C terminus in the inner membrane
    basic FUNCTION
  • mitochondrial carrier aralar,isoform of the calcium-binding aspartate/glutamate exchanger
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS mitochondrial transport
    text
  • calcium dependent mitochondrial soluble carrier
  • energy transfer
  • PATHWAY
    metabolism energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein substrate for the TIMM8A/TIMM13 complex
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) AUTS5 , EIEE39
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS