The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011] See more...

Aliases for SLC25A11 Gene

Aliases for SLC25A11 Gene

  • Solute Carrier Family 25 Member 11 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier; Oxoglutarate Carrier), Member 11 2 3
  • Mitochondrial 2-Oxoglutarate/Malate Carrier Protein 3 4
  • SLC20A4 3 4
  • OGCP 3 4
  • OGC 2 3
  • Solute Carrier Family 20 (Oxoglutarate Carrier), Member 4 3
  • SLC25A11 5
  • PGL6 3

External Ids for SLC25A11 Gene

Previous HGNC Symbols for SLC25A11 Gene

  • SLC20A4

Previous GeneCards Identifiers for SLC25A11 Gene

  • GC17M005260
  • GC17M004785
  • GC17M005041
  • GC17M004782
  • GC17M004840

Summaries for SLC25A11 Gene

Entrez Gene Summary for SLC25A11 Gene

  • The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]

GeneCards Summary for SLC25A11 Gene

SLC25A11 (Solute Carrier Family 25 Member 11) is a Protein Coding gene. Diseases associated with SLC25A11 include Paragangliomas 6 and Hereditary Paraganglioma-Pheochromocytoma Syndromes. Among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include oxoglutarate:malate antiporter activity. An important paralog of this gene is SLC25A35.

UniProtKB/Swiss-Prot Summary for SLC25A11 Gene

  • Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity). Acts as a tumor-suppressor gene implicated in the predisposition to metastatic paraganglioma.

Gene Wiki entry for SLC25A11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A11 Gene

Genomics for SLC25A11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SLC25A11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC25A11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A11

Top Transcription factor binding sites by QIAGEN in the SLC25A11 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • NF-kappaB1

Genomic Locations for SLC25A11 Gene

Latest Assembly
chr17:4,937,130-4,940,251
(GRCh38/hg38)
Size:
3,122 bases
Orientation:
Minus strand

Previous Assembly
chr17:4,840,425-4,843,341
(GRCh37/hg19 by Entrez Gene)
Size:
2,917 bases
Orientation:
Minus strand

chr17:4,840,425-4,843,546
(GRCh37/hg19 by Ensembl)
Size:
3,122 bases
Orientation:
Minus strand

Genomic View for SLC25A11 Gene

Genes around SLC25A11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC25A11 Gene

Proteins for SLC25A11 Gene

  • Protein details for SLC25A11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02978-M2OM_HUMAN
    Recommended name:
    Mitochondrial 2-oxoglutarate/malate carrier protein
    Protein Accession:
    Q02978
    Secondary Accessions:
    • F5GY65
    • O75537
    • Q969P7

    Protein attributes for SLC25A11 Gene

    Size:
    314 amino acids
    Molecular mass:
    34062 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC25A11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC25A11 Gene

Post-translational modifications for SLC25A11 Gene

  • Ubiquitination at Lys15, Lys57, Lys62, Lys73, and Lys162
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC25A11 Gene

No data available for DME Specific Peptides for SLC25A11 Gene

Domains & Families for SLC25A11 Gene

Gene Families for SLC25A11 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC25A11 Gene

Suggested Antigen Peptide Sequences for SLC25A11 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 11 (M2OM_HUMAN)
  • cDNA FLJ76014, highly similar to Homo sapiens solute carrier family 25 (mitochondrial carrier (Q6IBH0_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02978

UniProtKB/Swiss-Prot:

M2OM_HUMAN :
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
Family:
  • Belongs to the mitochondrial carrier (TC 2.A.29) family.
genes like me logo Genes that share domains with SLC25A11: view

Function for SLC25A11 Gene

Molecular function for SLC25A11 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transport of 2-oxoglutarate across the inner mitochondrial membrane in an electroneutral exchange for malate or other dicarboxylic acids, and plays an important role in several metabolic processes, including the malate-aspartate shuttle, the oxoglutarate/isocitrate shuttle, in gluconeogenesis from lactate, and in nitrogen metabolism. Maintains mitochondrial fusion and fission events, and the organization and morphology of cristae (PubMed:21448454). Involved in the regulation of apoptosis (By similarity). Acts as a tumor-suppressor gene implicated in the predisposition to metastatic paraganglioma.
GENATLAS Biochemistry:
solute carrier family 25 mitochondrial member 11,inner mitochondrial membrane,catalyzing the transport of 2-oxoglutarate for malate and other dicarboxylic acids,involved in malate-aspartate shuttle,oxoglutarate-isocitrate shuttle,gluco neogenesis and nitrogen metabolism

Phenotypes From GWAS Catalog for SLC25A11 Gene

Gene Ontology (GO) - Molecular Function for SLC25A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 32814053
GO:0015116 sulfate transmembrane transporter activity IBA 21873635
GO:0015117 thiosulfate transmembrane transporter activity IBA 21873635
GO:0015131 oxaloacetate transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with SLC25A11: view
genes like me logo Genes that share phenotypes with SLC25A11: view

Human Phenotype Ontology for SLC25A11 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for SLC25A11

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A11

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A11 Gene

Localization for SLC25A11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A11 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC25A11 gene
Compartment Confidence
mitochondrion 5
plasma membrane 4
nucleus 4
cytosol 3
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC25A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IEA,HDA 20833797
GO:0005743 mitochondrial inner membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1457818
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with SLC25A11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC25A11 Gene

Pathways & Interactions for SLC25A11 Gene

PathCards logo

SuperPathways for SLC25A11 Gene

genes like me logo Genes that share pathways with SLC25A11: view

Pathways by source for SLC25A11 Gene

Gene Ontology (GO) - Biological Process for SLC25A11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006094 gluconeogenesis TAS --
GO:0008272 sulfate transport IBA 21873635
GO:0015709 thiosulfate transport IBA 21873635
GO:0015729 oxaloacetate transport IBA 21873635
GO:0015742 alpha-ketoglutarate transport IEA --
genes like me logo Genes that share ontologies with SLC25A11: view

No data available for SIGNOR curated interactions for SLC25A11 Gene

Drugs & Compounds for SLC25A11 Gene

(1) Drugs for SLC25A11 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxogluric acid Experimental, Investigational Nutra 0

(1) Additional Compounds for SLC25A11 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SLC25A11: view

Transcripts for SLC25A11 Gene

mRNA/cDNA for SLC25A11 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A11

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A11 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -
SP3: -
SP4: -
SP5:

Relevant External Links for SLC25A11 Gene

GeneLoc Exon Structure for
SLC25A11

Expression for SLC25A11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A11 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SLC25A11 Gene

This gene is overexpressed in Nasal epithelium (19.5) and Heart (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A11 Gene



Protein tissue co-expression partners for SLC25A11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A11

SOURCE GeneReport for Unigene cluster for SLC25A11 Gene:

Hs.184877

Evidence on tissue expression from TISSUES for SLC25A11 Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Muscle(4.6)
  • Heart(2.7)
  • Lung(2.6)
  • Intestine(2.5)
  • Kidney(2.4)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with SLC25A11: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A11 Gene

Orthologs for SLC25A11 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC25A11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SLC25A11 30 31
  • 99.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SLC25A11 30 31
  • 92.25 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SLC25A11 31
  • 92 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SLC25A11 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia SLC25A11 30 31
  • 91.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Slc25a11 30 17 31
  • 90.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Slc25a11 30
  • 89.33 (n)
Lizard
(Anolis carolinensis)
Reptilia SLC25A11 31
  • 86 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia slc25a11 30
  • 78.18 (n)
Str.8212 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.13480 30
Zebrafish
(Danio rerio)
Actinopterygii slc25a11 30 31
  • 73.8 (n)
OneToOne
wufa07h09 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11128 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012097 30
  • 63.6 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1907 30 31 32
  • 62.98 (n)
OneToMany
CG7514 31 32
  • 53 (a)
OneToMany
CG18418 31 32
  • 52 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea B0432.4 32
  • 72 (a)
misc-1 30 31
  • 63.05 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DIC1 31
  • 37 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G19760 30
  • 51.02 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0432400 30
  • 52.65 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7200 31
  • 75 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU10732 30
  • 50.66 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.987 30
Species where no ortholog for SLC25A11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for SLC25A11 Gene

ENSEMBL:
Gene Tree for SLC25A11 (if available)
TreeFam:
Gene Tree for SLC25A11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A11: view image

Paralogs for SLC25A11 Gene

(11) SIMAP similar genes for SLC25A11 Gene using alignment to 3 proteins:

  • M2OM_HUMAN
  • I3L1P8_HUMAN
  • Q6IBH0_HUMAN
genes like me logo Genes that share paralogs with SLC25A11: view

Variants for SLC25A11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A11 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs1203876038 Pathogenic: Paragangliomas 6. Paragangliomas 6 (PGL6) [MIM:618464] 4,938,785(-) T/Cp.Met147Val
NM_003562.5(SLC25A11):c.439A>G (p.Met147Val)
MISSENSE
rs1374026152 Pathogenic: Paragangliomas 6 4,939,199(-) CTG/C
NM_003562.5(SLC25A11):c.107_108del (p.Thr36fs)
FRAMESHIFT_VARIANT,INTRON
rs1567650859 Pathogenic: Paragangliomas 6. Paragangliomas 6 (PGL6) [MIM:618464] 4,938,176(-) G/Tp.Pro239Thr
NM_003562.5(SLC25A11):c.715C>A (p.Pro239Thr)
MISSENSE
rs1567650874 Pathogenic: Paragangliomas 6 4,938,183(-) G/A
NM_003562.5(SLC25A11):c.708C>T (p.Ala236=)
SYNONYMOUS
rs1567651815 Pathogenic: Paragangliomas 6. Paragangliomas 6 (PGL6) [MIM:618464] 4,938,803(-) C/Tp.Glu141Lys
NM_003562.5(SLC25A11):c.421G>A (p.Glu141Lys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A11 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SLC25A11 Gene

Variant ID Type Subtype PubMed ID
dgv3088n100 CNV gain 25217958
esv3572365 CNV gain 25503493
nsv574273 CNV gain 21841781
nsv574275 CNV gain 21841781
nsv833347 CNV loss 17160897
nsv833349 CNV loss 17160897
nsv833350 CNV loss 17160897

Variation tolerance for SLC25A11 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A11

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC25A11 Gene

Disorders for SLC25A11 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC25A11 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
paragangliomas 6
  • pgl6
hereditary paraganglioma-pheochromocytoma syndromes
  • hereditary paraganglioma-pheochromocytoma
pulmonary adenocarcinoma in situ
  • bronchioalveolar carcinoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

M2OM_HUMAN
  • Paragangliomas 6 (PGL6) [MIM:618464]: An autosomal dominant tumor predisposition syndrome characterized by adult-onset development of paragangliomas, neural crest tumors usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Some of the tumors may secrete biologically active normetanephrine, resulting in secondary hypertension. PGL6 patients are at high risk for metastatic disease. {ECO:0000269 PubMed:29431636}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for SLC25A11

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SLC25A11: view

No data available for Genatlas for SLC25A11 Gene

Publications for SLC25A11 Gene

  1. Germline Mutations in the Mitochondrial 2-Oxoglutarate/Malate Carrier SLC25A11 Gene Confer a Predisposition to Metastatic Paragangliomas. (PMID: 29431636) Buffet A … Favier J (Cancer research 2018) 3 4 74
  2. Assignment of the oxoglutarate carrier gene (SLC20A4) to human chromosome 17p13.3. (PMID: 10072597) Piccininni S … Palmieri F (Cytogenetics and cell genetics 1998) 2 3 23
  3. Sequences of the human and bovine genes for the mitochondrial 2-oxoglutarate carrier. (PMID: 1457818) Iacobazzi V … Walker JE (DNA sequence : the journal of DNA sequencing and mapping 1992) 2 3 4
  4. MISC-1/OGC links mitochondrial metabolism, apoptosis and insulin secretion. (PMID: 21448454) Gallo M … Riddle DL (PloS one 2011) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

Products for SLC25A11 Gene

Sources for SLC25A11 Gene