SLC25A18 Gene (Protein Coding)

Solute Carrier Family 25 Member 18

GC22P017634
GIFtS:
41
See more...

Aliases for SLC25A18 Gene

Aliases for SLC25A18 Gene

  • Solute Carrier Family 25 Member 18 2 3 4 5
  • Solute Carrier Family 25 (Mitochondrial Carrier), Member 18 2 3
  • Solute Carrier Family 25 (Glutamate Carrier), Member 18 2 3
  • Mitochondrial Glutamate Carrier 2 3 4
  • Glutamate/H(+) Symporter 2 3 4
  • GC2 3 4
  • SLC25A18 5
  • GC-2 4

External Ids for SLC25A18 Gene

Previous GeneCards Identifiers for SLC25A18 Gene

  • GC22P014986
  • GC22P016417
  • GC22P016423
  • GC22P018043
  • GC22P001861
  • GC22P017564
  • GC22P017567
  • GC22P017574
  • GC22P017573
  • GC22P017575
  • GC22P017591
  • GC22P017568
  • GC22P017569
  • GC22P017570
  • GC22P017571
  • GC22P017572
  • GC22P017608

Summaries for SLC25A18 Gene

GeneCards Summary for SLC25A18 Gene

SLC25A18 (Solute Carrier Family 25 Member 18) is a Protein Coding gene. Diseases associated with SLC25A18 include Phencyclidine Abuse and Hyperlysinemia, Type I. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include symporter activity. An important paralog of this gene is SLC25A22.

UniProtKB/Swiss-Prot Summary for SLC25A18 Gene

  • Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

Additional gene information for SLC25A18 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC25A18 Gene

Genomics for SLC25A18 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC25A18 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 SLC25A18 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC25A18

Top Transcription factor binding sites by QIAGEN in the SLC25A18 gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • MIF-1
  • NF-kappaB
  • NF-kappaB1
  • PPAR-gamma1
  • PPAR-gamma2
  • USF-1
  • USF1

Genomic Locations for SLC25A18 Gene

Latest Assembly
chr22:17,562,470-17,592,256
(GRCh38/hg38)
Size:
29,787 bases
Orientation:
Plus strand

Previous Assembly
chr22:18,043,198-18,073,761
(GRCh37/hg19 by Entrez Gene)
Size:
30,564 bases
Orientation:
Plus strand

chr22:18,043,139-18,073,760
(GRCh37/hg19 by Ensembl)
Size:
30,622 bases
Orientation:
Plus strand

Genomic View for SLC25A18 Gene

Genes around SLC25A18 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC25A18 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC25A18 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SLC25A18 Gene

Proteins for SLC25A18 Gene

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  • Protein details for SLC25A18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H1K4-GHC2_HUMAN
    Recommended name:
    Mitochondrial glutamate carrier 2
    Protein Accession:
    Q9H1K4

    Protein attributes for SLC25A18 Gene

    Size:
    315 amino acids
    Molecular mass:
    33849 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SLC25A18 Gene

Protein Expression for SLC25A18 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC25A18 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC25A18 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC25A18 Gene

Domains & Families for SLC25A18 Gene

Gene Families for SLC25A18 Gene

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

Protein Domains for SLC25A18 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC25A18 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 25 member 18 (GHC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H1K4

UniProtKB/Swiss-Prot:

GHC2_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 SLC25A18: view

Function for SLC25A18 Gene

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  6. Cell Lines for research

Molecular function for SLC25A18 Gene

UniProtKB/Swiss-Prot Function:
Involved in the transport of glutamate across the inner mitochondrial membrane. Glutamate is cotransported with H(+).

Phenotypes From GWAS Catalog for SLC25A18 Gene

Gene Ontology (GO) - Molecular Function for SLC25A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005313 L-glutamate transmembrane transporter activity IBA 21873635
GO:0005347 ATP transmembrane transporter activity IEA --
GO:0005515 protein binding IPI 25416956
GO:0015183 L-aspartate transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC25A18: view
genes like me logo Genes that share phenotypes with SLC25A18: view

Animal Models for research

miRNA for SLC25A18 Gene

miRTarBase miRNAs that target SLC25A18

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC25A18

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC25A18 Gene

Localization for SLC25A18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC25A18 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 SLC25A18 gene
Compartment Confidence
mitochondrion 4
plasma membrane 3
nucleus 2
cytosol 2
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC25A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC25A18: view

Pathways & Interactions for SLC25A18 Gene

genes like me logo Genes that share pathways with SLC25A18: view

Gene Ontology (GO) - Biological Process for SLC25A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IBA 21873635
GO:0006811 ion transport TAS --
GO:0015810 aspartate transmembrane transport IBA 21873635
GO:0015813 L-glutamate transmembrane transport IBA 21873635
GO:0043490 malate-aspartate shuttle IBA 21873635
genes like me logo Genes that share ontologies with SLC25A18: view

No data available for SIGNOR curated interactions for SLC25A18 Gene

Drugs & Compounds for SLC25A18 Gene

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  1. Drug products for research

(1) Drugs for SLC25A18 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glutamic acid Approved Nutra Transporter 320
genes like me logo Genes that share compounds with SLC25A18: view

Transcripts for SLC25A18 Gene

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mRNA/cDNA for SLC25A18 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 SLC25A18

Alternative Splicing Database (ASD) splice patterns (SP) for SLC25A18 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^
SP1: - - - - - - - - - -
SP2: - - - - - - - - - - -
SP3: - - - - - - - - - - -
SP4: - - - - - - - -
SP5:
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - - - -
SP9: - -
SP10: - - -
SP11:
SP12: -
SP13: - - -

ExUns: 12a · 12b ^ 13a · 13b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SLC25A18 Gene

GeneLoc Exon Structure for
SLC25A18

Expression for SLC25A18 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC25A18 Gene

mRNA expression in normal human tissues for SLC25A18 Gene
mRNA expression by GTEx for SLC25A18 Gene

mRNA differential expression in normal tissues according to GTEx for SLC25A18 Gene

This gene is overexpressed in Brain - Amygdala (x5.7), Liver (x5.3), Brain - Caudate (basal ganglia) (x4.7), Brain - Putamen (basal ganglia) (x4.5), Brain - Nucleus accumbens (basal ganglia) (x4.1), and Brain - Hippocampus (x4.0).

Protein differential expression in normal tissues from HIPED for SLC25A18 Gene

This gene is overexpressed in Brain (27.5), Liver (9.1), Frontal cortex (8.3), and Spinal cord (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SLC25A18 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC25A18

SOURCE GeneReport for Unigene cluster for SLC25A18 Gene:

Hs.282982

Evidence on tissue expression from TISSUES for SLC25A18 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Blood(2.5)
  • Eye(2.2)
genes like me logo Genes that share expression patterns with SLC25A18: view

Primer products for research

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC25A18 Gene

Orthologs for SLC25A18 Gene

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

Orthologs for SLC25A18 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SLC25A18 30 31
  • 98.2 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC25A18 30 31
  • 87.47 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Slc25a18 30
  • 85.19 (n)
Mouse
(Mus musculus)
 Mammalia Slc25a18 30 17 31
  • 85.19 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC25A18 31
  • 70 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia SLC25A18 31
  • 62 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SLC25A18 31
  • 73 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia slc25a18 30
  • 70.21 (n)
Zebrafish
(Danio rerio)
 Actinopterygii slc25a18 30 31
  • 66.02 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG18347 31 32
  • 52 (a)
 ManyToMany
CG12201 31 32
  • 48 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea F20D1.9 31 32
  • 49 (a)
 ManyToMany
F55G1.5 31 32
  • 48 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes AGC1 31
  • 12 (a)
 OneToMany
Species where no ortholog for SLC25A18 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for SLC25A18 Gene

ENSEMBL:
Gene Tree for SLC25A18 (if available)
TreeFam:
Gene Tree for SLC25A18 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC25A18: view image

Paralogs for SLC25A18 Gene

Paralogs for SLC25A18 Gene

(3) SIMAP similar genes for SLC25A18 Gene using alignment to 1 proteins:

  • GHC2_HUMAN

Pseudogenes.org Pseudogenes for SLC25A18 Gene

genes like me logo Genes that share paralogs with SLC25A18: view

Variants for SLC25A18 Gene

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  1. SNP Genotyping and Copy Number Assays for research

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SLC25A18 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 SLC25A18 Gene

Variant ID Type Subtype PubMed ID
dgv1278e212 CNV loss 25503493
dgv4464n100 CNV gain 25217958
dgv4465n100 CNV gain 25217958
esv2657458 CNV deletion 23128226
esv2672971 CNV deletion 23128226
esv3568229 CNV loss 25503493
esv3568230 CNV loss 25503493
esv3647223 CNV loss 21293372
esv3647225 CNV loss 21293372
esv3647226 CNV loss 21293372
esv3893428 CNV loss 25118596
nsv1065055 CNV gain 25217958
nsv1116939 CNV deletion 24896259
nsv3553 CNV deletion 18451855
nsv428385 CNV gain+loss 18775914
nsv510802 CNV deletion 20534489
nsv526826 CNV gain 19592680
nsv9871 CNV loss 18304495

Variation tolerance for SLC25A18 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.99; 20.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC25A18 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC25A18

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC25A18 Gene

Disorders for SLC25A18 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SLC25A18 Gene - From: COP

Disorder Aliases PubMed IDs
phencyclidine abuse
  • pcp abuse
hyperlysinemia, type i
  • lysine:alpha-ketoglutarate reductase deficiency
glutaric acidemia i
  • ga1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SLC25A18

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 SLC25A18: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SLC25A18 Gene

Publications for SLC25A18 Gene

  1. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. (PMID: 11897791) Fiermonte G … Walker JE (The Journal of biological chemistry 2002) 2 3 4
  2. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. (PMID: 11381032) Footz TK … McDermid HE (Genome research 2001) 2 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4

ExternalLinks

View latest publications for SLC25A18 gene in Mastermind

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Sources for SLC25A18 Gene