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Aliases for SLC25A12 Gene

Aliases for SLC25A12 Gene

  • Solute Carrier Family 25 Member 12 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier, Aralar), Member 12 2 3
  • Solute Carrier Family 25 (Aspartate/Glutamate Carrier), Member 12 2 3
  • Mitochondrial Aspartate Glutamate Carrier 1 3 4
  • Calcium Binding Mitochondrial Carrier Superfamily Member Aralar1 3
  • Calcium-Binding Mitochondrial Carrier Protein Aralar1 3
  • Araceli Hiperlarga 3
  • ARALAR1 4
  • ARALAR 3
  • EIEE39 3
  • AGC1 3

External Ids for SLC25A12 Gene

Previous GeneCards Identifiers for SLC25A12 Gene

  • GC02M170692
  • GC02M171182
  • GC02M172604
  • GC02M172843
  • GC02M172466
  • GC02M172349
  • GC02M164525

Summaries for SLC25A12 Gene

Entrez Gene Summary for SLC25A12 Gene

  • This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]

GeneCards Summary for SLC25A12 Gene

SLC25A12 (Solute Carrier Family 25 Member 12) is a Protein Coding gene. Diseases associated with SLC25A12 include Hypomyelination, Global Cerebral and Asperger Syndrome. Among its related pathways are Metabolism and Glucose metabolism. GO annotations related to this gene include calcium ion binding and L-aspartate transmembrane transporter activity. An important paralog of this gene is SLC25A13.

UniProtKB/Swiss-Prot for SLC25A12 Gene

  • Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Gene Wiki entry for SLC25A12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC25A12 Gene

Genomics for SLC25A12 Gene

Regulatory Elements for SLC25A12 Gene

Enhancers for SLC25A12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F171958 0.6 Ensembl 21.5 +40.7 40659 2.4 ZNF121 MAX MAFK MYC SLC25A12 HAT1 METAP1D GC02P171964 PIR50788
GH02F171954 1 Ensembl ENCODE 20.8 +44.9 44886 0.9 RFX1 CEBPB ZFP69B OSR2 ZNF692 IKZF1 PBX2 PRDM10 NFE2 KDM1A SLC25A12 HAT1 METAP1D PIR50788 GC02M171942
GH02F171806 0.2 ENCODE 18.5 +192.3 192290 1.9 ELF3 PKNOX1 ATF1 THRB ZNF48 RARA FOS CREM MIXL1 HMG20B SLC25A12 METAP1D HAT1 GC02P171811 LOC105373738
GH02F171893 0.2 ENCODE 17.9 +105.7 105686 1.9 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YBX1 ZNF2 YY1 ZNF207 ZNF263 SLC25A12 HAT1 METAP1D LOC105373739 RNU6-182P
GH02F171711 1 Ensembl ENCODE 15.6 +287.8 287750 2.0 BCOR PKNOX1 JUN INSM2 ZMYM3 FEZF1 BCL11B ZEB1 HIC1 CTBP1 SLC25A12 METAP1D DYNC1I2 LOC105373738
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SLC25A12 on UCSC Golden Path with GeneCards custom track

Promoters for SLC25A12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000305247 -241 1801 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9

Genomic Location for SLC25A12 Gene

Chromosome:
2
Start:
171,783,405 bp from pter
End:
171,999,859 bp from pter
Size:
216,455 bases
Orientation:
Minus strand

Genomic View for SLC25A12 Gene

Genes around SLC25A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A12 Gene

Proteins for SLC25A12 Gene

  • Protein details for SLC25A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75746-CMC1_HUMAN
    Recommended name:
    Calcium-binding mitochondrial carrier protein Aralar1
    Protein Accession:
    O75746
    Secondary Accessions:
    • B3KR64
    • Q96AM8

    Protein attributes for SLC25A12 Gene

    Size:
    678 amino acids
    Molecular mass:
    74762 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Binds calcium.

    Three dimensional structures from OCA and Proteopedia for SLC25A12 Gene

    Alternative splice isoforms for SLC25A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A12 Gene

Post-translational modifications for SLC25A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A12 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SLC25A12 (SLC25A12)

No data available for DME Specific Peptides for SLC25A12 Gene

Domains & Families for SLC25A12 Gene

Gene Families for SLC25A12 Gene

Graphical View of Domain Structure for InterPro Entry

O75746

UniProtKB/Swiss-Prot:

CMC1_HUMAN :
  • Contains 4 EF-hand domains.
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
  • Contains 3 Solcar repeats.
Domain:
  • Contains 4 EF-hand domains.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Similarity:
  • Contains 3 Solcar repeats.
genes like me logo Genes that share domains with SLC25A12: view

Function for SLC25A12 Gene

Molecular function for SLC25A12 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the calcium-dependent exchange of cytoplasmic glutamate with mitochondrial aspartate across the mitochondrial inner membrane. May have a function in the urea cycle.

Gene Ontology (GO) - Molecular Function for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IDA 11566871
GO:0005509 calcium ion binding IEA,IDA 9722566
GO:0015172 acidic amino acid transmembrane transporter activity TAS --
GO:0015183 L-aspartate transmembrane transporter activity IDA 11566871
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SLC25A12: view
genes like me logo Genes that share phenotypes with SLC25A12: view

Human Phenotype Ontology for SLC25A12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC25A12

miRNA for SLC25A12 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A12 Gene

Localization for SLC25A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A12 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC25A12 Gene COMPARTMENTS Subcellular localization image for SLC25A12 gene
Compartment Confidence
mitochondrion 5
cytosol 4
nucleus 2
plasma membrane 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 9722566
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 9722566
GO:0043209 myelin sheath IEA --
genes like me logo Genes that share ontologies with SLC25A12: view

Pathways & Interactions for SLC25A12 Gene

genes like me logo Genes that share pathways with SLC25A12: view

Pathways by source for SLC25A12 Gene

2 Cell Signaling Technology pathways for SLC25A12 Gene

Gene Ontology (GO) - Biological Process for SLC25A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0006810 transport IEA --
GO:0015810 aspartate transport IDA 11566871
GO:0015813 L-glutamate transport IDA 11566871
GO:0043490 malate-aspartate shuttle IEA,IDA 11566871
genes like me logo Genes that share ontologies with SLC25A12: view

No data available for SIGNOR curated interactions for SLC25A12 Gene

Drugs & Compounds for SLC25A12 Gene

(2) Drugs for SLC25A12 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Aspartic acid Approved Nutra Target 0
calcium Nutra 0

(2) Additional Compounds for SLC25A12 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A12: view

Transcripts for SLC25A12 Gene

Unigene Clusters for SLC25A12 Gene

Solute carrier family 25 (aspartate/glutamate carrier), member 12:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A12 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - - -
SP3:
SP4:

Relevant External Links for SLC25A12 Gene

GeneLoc Exon Structure for
SLC25A12
ECgene alternative splicing isoforms for
SLC25A12

Expression for SLC25A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A12 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A12 Gene

This gene is overexpressed in Muscle - Skeletal (x4.7).

Protein differential expression in normal tissues from HIPED for SLC25A12 Gene

This gene is overexpressed in Nasal epithelium (24.3), Heart (12.0), and Frontal cortex (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC25A12 Gene



Protein tissue co-expression partners for SLC25A12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SLC25A12 Gene:

SLC25A12

SOURCE GeneReport for Unigene cluster for SLC25A12 Gene:

Hs.470608

mRNA Expression by UniProt/SwissProt for SLC25A12 Gene:

O75746-CMC1_HUMAN
Tissue specificity: High levels in heart and skeletal muscle, low in brain and very low in kidney.
genes like me logo Genes that share expression patterns with SLC25A12: view

Primer Products

Orthologs for SLC25A12 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SLC25A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC25A12 34 35
  • 99.71 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC25A12 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC25A12 34 35
  • 93.87 (n)
dog
(Canis familiaris)
Mammalia SLC25A12 34 35
  • 93.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A12 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc25a12 34 16 35
  • 88.07 (n)
chicken
(Gallus gallus)
Aves SLC25A12 34 35
  • 80.33 (n)
lizard
(Anolis carolinensis)
Reptilia SLC25A12 35
  • 90 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc25a12 34 35
  • 70.69 (n)
Dr.3511 34
fruit fly
(Drosophila melanogaster)
Insecta aralar1 36 34
  • 59.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000958 34
  • 57.78 (n)
worm
(Caenorhabditis elegans)
Secernentea K02F3.2 36 34 35
  • 56.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes AGC1 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5735 35
  • 63 (a)
ManyToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU01241 34
  • 51 (n)
Species where no ortholog for SLC25A12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC25A12 Gene

ENSEMBL:
Gene Tree for SLC25A12 (if available)
TreeFam:
Gene Tree for SLC25A12 (if available)

Paralogs for SLC25A12 Gene

Paralogs for SLC25A12 Gene

(9) SIMAP similar genes for SLC25A12 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with SLC25A12: view

Variants for SLC25A12 Gene

Sequence variations from dbSNP and Humsavar for SLC25A12 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121434396 Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949], Pathogenic 171,787,637(-) TCCCC(A/G)GTTTG nc-transcript-variant, reference, missense
VAR_071976 Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949]
rs483352725 Uncertain significance 171,793,656(-) TGCTC(C/T)GGGAC nc-transcript-variant, reference, missense
rs35881803 Benign 171,834,750(-) CACAA(A/G)GAAAG nc-transcript-variant, reference, missense
rs535710884 Benign 171,810,286(+) GTAAA(-/G)GGACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC25A12 Gene

Variant ID Type Subtype PubMed ID
dgv2093n106 CNV deletion 24896259
esv2674991 CNV deletion 23128226
esv2721130 CNV deletion 23290073
nsv583611 CNV gain 21841781
nsv834457 CNV loss 17160897

Variation tolerance for SLC25A12 Gene

Residual Variation Intolerance Score: 7.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.16; 51.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC25A12 Gene

Human Gene Mutation Database (HGMD)
SLC25A12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A12 Gene

Disorders for SLC25A12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC25A12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypomyelination, global cerebral
  • global cerebral hypomyelination
asperger syndrome
  • asperger disorder
mohr-tranebjaerg syndrome
  • deafness dystonia syndrome
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CMC1_HUMAN
  • Epileptic encephalopathy, early infantile, 39 (EIEE39) [MIM:612949]: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE39 is characterized by global hypomyelination of the central nervous system, with the gray matter appearing relatively unaffected. Inheritance is autosomal recessive. {ECO:0000269 PubMed:19641205, ECO:0000269 PubMed:24515575}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC25A12

Genetic Association Database (GAD)
SLC25A12
Human Genome Epidemiology (HuGE) Navigator
SLC25A12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC25A12
genes like me logo Genes that share disorders with SLC25A12: view

No data available for Genatlas for SLC25A12 Gene

Publications for SLC25A12 Gene

  1. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. (PMID: 11566871) Palmieri L. … Palmieri F. (EMBO J. 2001) 2 3 4 22 64
  2. AGC1 deficiency associated with global cerebral hypomyelination. (PMID: 19641205) Wibom R. … Wedell A. (N. Engl. J. Med. 2009) 3 4 22 64
  3. Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene. (PMID: 17151801) Correia C. … Vicente A.M. (J Autism Dev Disord 2006) 3 25 46 64
  4. Assignment of the SLC25A12 gene coding for the human calcium-binding mitochondrial solute carrier protein aralar to human chromosome 2q24. (PMID: 10702666) Crackower M.A. … Scherer S.W. (Cytogenet. Cell Genet. 1999) 2 3 22 64
  5. Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. (PMID: 9722566) Del Arco A. … Satrustegui J. (J. Biol. Chem. 1998) 2 3 4 64

Products for SLC25A12 Gene

Sources for SLC25A12 Gene

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