Details for: SLC25A12

Gene ID: 8604

Symbol: SLC25A12

Ensembl ID: ENSG00000115840

Description: solute carrier family 25 member 12

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 306.0846
    Cell Significance Index: -47.6100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 184.9447
    Cell Significance Index: -46.9100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 112.2230
    Cell Significance Index: -46.2300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 100.9272
    Cell Significance Index: -47.6500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 88.4908
    Cell Significance Index: -35.9500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 38.8984
    Cell Significance Index: -47.9600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 37.8322
    Cell Significance Index: -36.1200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.1935
    Cell Significance Index: -43.3800
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 13.8078
    Cell Significance Index: -42.4100
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 12.2097
    Cell Significance Index: -48.1800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.1070
    Cell Significance Index: -22.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 3.1676
    Cell Significance Index: 1136.1600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 3.0057
    Cell Significance Index: 230.6500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.5182
    Cell Significance Index: 505.1400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 2.3659
    Cell Significance Index: 89.5900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 2.2926
    Cell Significance Index: 101.4100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.1924
    Cell Significance Index: 1516.3400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 1.8049
    Cell Significance Index: 30.9300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.7546
    Cell Significance Index: 38.4200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.6873
    Cell Significance Index: 20.9300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.5179
    Cell Significance Index: 42.4200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.2866
    Cell Significance Index: 72.2000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.2606
    Cell Significance Index: 26.9500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 1.2123
    Cell Significance Index: 29.5800
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.1908
    Cell Significance Index: 17.5800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.0235
    Cell Significance Index: 26.3100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.0173
    Cell Significance Index: 201.8900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7091
    Cell Significance Index: 70.1500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.6743
    Cell Significance Index: 13.1600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6555
    Cell Significance Index: 591.8300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.6533
    Cell Significance Index: 33.0100
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.5922
    Cell Significance Index: 7.9000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3520
    Cell Significance Index: 57.2500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3152
    Cell Significance Index: 593.5200
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.2709
    Cell Significance Index: 3.8900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2601
    Cell Significance Index: 11.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.2386
    Cell Significance Index: 108.3000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2039
    Cell Significance Index: 129.5100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1603
    Cell Significance Index: 295.6300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1538
    Cell Significance Index: 16.7300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1522
    Cell Significance Index: 9.5900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.1491
    Cell Significance Index: 19.1200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1488
    Cell Significance Index: 65.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1343
    Cell Significance Index: 206.7200
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0427
    Cell Significance Index: 7.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0382
    Cell Significance Index: 51.9700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0337
    Cell Significance Index: 0.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0291
    Cell Significance Index: 15.8700
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0275
    Cell Significance Index: 3.3800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0040
    Cell Significance Index: 0.1200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0035
    Cell Significance Index: -0.6700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0202
    Cell Significance Index: -14.9400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0219
    Cell Significance Index: -0.7700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0236
    Cell Significance Index: -17.3400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0238
    Cell Significance Index: -14.8400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0265
    Cell Significance Index: -14.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0298
    Cell Significance Index: -3.5100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0476
    Cell Significance Index: -6.5400
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0577
    Cell Significance Index: -1.1400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0608
    Cell Significance Index: -1.5200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0648
    Cell Significance Index: -49.0600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1151
    Cell Significance Index: -2.3100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1158
    Cell Significance Index: -12.0600
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1171
    Cell Significance Index: -8.1000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1270
    Cell Significance Index: -26.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1368
    Cell Significance Index: -19.8900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1386
    Cell Significance Index: -39.8900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1571
    Cell Significance Index: -26.8200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1652
    Cell Significance Index: -9.9200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1847
    Cell Significance Index: -8.6100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.2077
    Cell Significance Index: -21.2200
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2093
    Cell Significance Index: -2.6100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2327
    Cell Significance Index: -12.0900
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2496
    Cell Significance Index: -3.5800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2528
    Cell Significance Index: -29.4600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2595
    Cell Significance Index: -33.5200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2626
    Cell Significance Index: -3.1300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2901
    Cell Significance Index: -15.2300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2945
    Cell Significance Index: -6.2500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.3297
    Cell Significance Index: -23.3200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3502
    Cell Significance Index: -18.2400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3758
    Cell Significance Index: -11.9700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3864
    Cell Significance Index: -12.6500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3867
    Cell Significance Index: -18.1800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4077
    Cell Significance Index: -46.5400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.4183
    Cell Significance Index: -6.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.4480
    Cell Significance Index: -51.3300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4557
    Cell Significance Index: -33.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4572
    Cell Significance Index: -36.2100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4754
    Cell Significance Index: -6.0000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4924
    Cell Significance Index: -31.7700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5429
    Cell Significance Index: -17.3900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.5650
    Cell Significance Index: -34.6400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.6327
    Cell Significance Index: -10.9400
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.6365
    Cell Significance Index: -6.6300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.6485
    Cell Significance Index: -19.0500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6515
    Cell Significance Index: -13.8800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.6633
    Cell Significance Index: -13.7600
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6721
    Cell Significance Index: -16.7700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6938
    Cell Significance Index: -14.4800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** SLC25A12 is a transmembrane protein belonging to the solute carrier family 25, which is characterized by its ability to transport aspartate and glutamate across cellular membranes. The gene is encoded by a single copy in humans and is significantly expressed in various cell types, including inhibitory interneurons, ventricular cardiac myocytes, and Purkinje cells. SLC25A12 exhibits a high degree of homology with other members of the solute carrier family 25, suggesting a conserved function across species. **Pathways and Functions:** SLC25A12 is involved in several key pathways, including: 1. **Aspartate-Glutamate Antiporter Activity**: SLC25A12 forms a complex with the aspartate-glutamate antiporter protein (ASCT2) to facilitate the exchange of aspartate and glutamate across cellular membranes. 2. **Acidic Amino Acid Transmembrane Transport**: SLC25A12 is responsible for transporting acidic amino acids, such as aspartate and glutamate, into and out of cells. 3. **Aspartate and Asparagine Metabolism**: SLC25A12 plays a crucial role in the metabolism of aspartate and asparagine, two essential amino acids involved in various cellular processes. 4. **Gluconeogenesis**: SLC25A12 is involved in the regulation of gluconeogenesis, a metabolic pathway that generates glucose from non-carbohydrate sources. **Clinical Significance:** Dysregulation of SLC25A12 has been implicated in various diseases, including: 1. **Neurological Disorders**: Mutations in SLC25A12 have been associated with neurological disorders, such as epilepsy and schizophrenia. 2. **Metabolic Disorders**: SLC25A12 dysfunction has been linked to metabolic disorders, such as diabetes and metabolic syndrome. 3. **Cardiovascular Disease**: Abnormal expression of SLC25A12 has been observed in cardiovascular disease, including heart failure and cardiac arrhythmias. 4. **Cancer**: SLC25A12 has been identified as a potential biomarker for cancer, including glioblastoma and ovarian cancer. In conclusion, SLC25A12 is a critical gene that plays a vital role in the transport of aspartate and glutamate across cellular membranes. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the mechanisms of SLC25A12 and its potential therapeutic applications.

Genular Protein ID: 162689870

Symbol: S2512_HUMAN

Name: N/A

UniProtKB Accession Codes:

O75746 B3KR64 Q96AM8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 13 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 8 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 3 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9722566

Title: Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain.

PubMed ID: 9722566

DOI: 10.1074/jbc.273.36.23327

PubMed ID: 11566871

Title: Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria.

PubMed ID: 11566871

DOI: 10.1093/emboj/20.18.5060

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10369257

Title: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein.

PubMed ID: 10369257

DOI: 10.1038/9667

PubMed ID: 10642534

Title: Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues.

PubMed ID: 10642534

DOI: 10.1042/0264-6021:3450725

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 25489052

Title: Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects.

PubMed ID: 25489052

DOI: 10.1093/hmg/ddu611

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 19641205

Title: AGC1 deficiency associated with global cerebral hypomyelination.

PubMed ID: 19641205

DOI: 10.1056/nejmoa0900591

PubMed ID: 24515575

Title: AGC1 deficiency causes infantile epilepsy, abnormal myelination, and reduced n-acetylaspartate.

PubMed ID: 24515575

DOI: 10.1007/8904_2013_287

PubMed ID: 25410934

Title: Calcium-induced conformational changes of the regulatory domain of human mitochondrial aspartate/glutamate carriers.

PubMed ID: 25410934

DOI: 10.1038/ncomms6491

Sequence Information:

  • Length: 678
  • Mass: 74762
  • Checksum: D00A7D3D4244539F
  • Sequence:
    • MAVKVQTTKR GDPHELRNIF LQYASTEVDG ERYMTPEDFV QRYLGLYNDP NSNPKIVQLL 
AGVADQTKDG LISYQEFLAF ESVLCAPDSM FIVAFQLFDK SGNGEVTFEN VKEIFGQTII 
HHHIPFNWDC EFIRLHFGHN RKKHLNYTEF TQFLQELQLE HARQAFALKD KSKSGMISGL 
DFSDIMVTIR SHMLTPFVEE NLVSAAGGSI SHQVSFSYFN AFNSLLNNME LVRKIYSTLA 
GTRKDVEVTK EEFAQSAIRY GQVTPLEIDI LYQLADLYNA SGRLTLADIE RIAPLAEGAL 
PYNLAELQRQ QSPGLGRPIW LQIAESAYRF TLGSVAGAVG ATAVYPIDLV KTRMQNQRGS 
GSVVGELMYK NSFDCFKKVL RYEGFFGLYR GLIPQLIGVA PEKAIKLTVN DFVRDKFTRR 
DGSVPLPAEV LAGGCAGGSQ VIFTNPLEIV KIRLQVAGEI TTGPRVSALN VLRDLGIFGL 
YKGAKACFLR DIPFSAIYFP VYAHCKLLLA DENGHVGGLN LLAAGAMAGV PAASLVTPAD 
VIKTRLQVAA RAGQTTYSGV IDCFRKILRE EGPSAFWKGT AARVFRSSPQ FGVTLVTYEL 
LQRWFYIDFG GLKPAGSEPT PKSRIADLPP ANPDHIGGYR LATATFAGIE NKFGLYLPKF 
KSPSVAVVQP KAAVAATQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.