Seroatlas · Human Serome Atlas

SLC25A12

Electrogenic aspartate/glutamate antiporter SLC25A12, mitochondrial

Also known as: Aralar, S2512_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O75746
Gene
SLC25A12
Ensembl
ENSG00000115840
Chromosome
2
Canonical length
678 aa
Protein class
Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nuclear speckles,Cytosol
Quaternary structure
Homodimer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

678 residues, UniProt reviewed canonical sequence.

>O75746|SLC25A12
     1  MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP NSNPKIVQLL
    61  AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK SGNGEVTFEN VKEIFGQTII
   121  HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF TQFLQELQLE HARQAFALKD KSKSGMISGL
   181  DFSDIMVTIR SHMLTPFVEE NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA
   241  GTRKDVEVTK EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL
   301  PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV KTRMQNQRGS
   361  GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA PEKAIKLTVN DFVRDKFTRR
   421  DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV KIRLQVAGEI TTGPRVSALN VLRDLGIFGL
   481  YKGAKACFLR DIPFSAIYFP VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD
   541  VIKTRLQVAA RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL
   601  LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE NKFGLYLPKF
   661  KSPSVAVVQP KAAVAATQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SLC25A12 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
6
Mean surface accessibility (rSASA)
0.29
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • tongue: 48 nTPM
  • skeletal muscle: 45 nTPM
  • heart muscle: 26 nTPM
  • retina: 15 nTPM
  • cerebral cortex: 13 nTPM
  • cerebellum: 12 nTPM

Single-cell type

  • myonuclei: 702 nCPM
  • choroid plexus epithelial cells: 332 nCPM
  • brain inhibitory neurons: 305 nCPM
  • brain excitatory neurons: 259 nCPM
  • cardiomyocytes: 255 nCPM
  • other brain neurons: 239 nCPM

Immune cell

  • naive CD8 T-cell: 1.5 nTPM
  • gdT-cell: 1 nTPM
  • memory CD8 T-cell: 0.9 nTPM
  • naive CD4 T-cell: 0.9 nTPM
  • NK-cell: 0.9 nTPM
  • MAIT T-cell: 0.8 nTPM

Brain region

  • cerebral cortex: 24 nTPM
  • hypothalamus: 18 nTPM
  • cerebellum: 18 nTPM
  • basal ganglia: 17 nTPM
  • white matter: 16 nTPM
  • hippocampal formation: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SLC25A12.

Disease | AllUniProt

Conditions SLC25A12 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 39 with leukodystrophy (DEE39) MIM:612949

Disease | GeneticClinVar

22 pathogenic / likely-pathogenic of 560 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.42
gnomAD pLI
0.22
gnomAD missense Z
2.71
DepMap mean gene effect
-0.02
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SLC25A12 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SLC25A12 as an antibody target. Whether an autoantibody or antibody against SLC25A12 could matter depends on whether native SLC25A12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SLC25A12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SLC25A12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SLC25A12. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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