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    SLC25A18 solute carrier family 25 member 18 [ Homo sapiens (human) ]

    Gene ID: 83733, updated on 5-May-2024

    Summary

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    Official Symbol
    SLC25A18provided by HGNC
    Official Full Name
    solute carrier family 25 member 18provided by HGNC
    Primary source
    HGNC:HGNC:10988
    See related
    Ensembl:ENSG00000182902 MIM:609303; AllianceGenome:HGNC:10988
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GC2
    Summary
    Predicted to enable L-aspartate transmembrane transporter activity and L-glutamate transmembrane transporter activity. Predicted to be involved in L-glutamate transmembrane transport; aspartate transmembrane transport; and malate-aspartate shuttle. Predicted to be located in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 15.7), liver (RPKM 8.1) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC25A18 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17563498..17590995)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (18231243..18258739)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (18043198..18073761)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene CECR2 histone acetyl-lysine reader Neighboring gene MPRA-validated peak4447 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17914611-17915170 Neighboring gene Charcot-Leyden crystal protein pseudogene 1 Neighboring gene MPRA-validated peak4449 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17944405-17945163 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:17954710-17955263 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:17973322-17973938 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 6 Neighboring gene Sharpr-MPRA regulatory region 614 Neighboring gene uncharacterized LOC105372850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18048734-18049485 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18049486-18050236 Neighboring gene uncharacterized LOC101929372 Neighboring gene ATPase H+ transporting V1 subunit E1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18623 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:18117540-18117771 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:18119788-18120660 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18120661-18121532 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:18121533-18122405 Neighboring gene uncharacterized LOC124905160 Neighboring gene BCL2 like 13

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. Knijnenburg J, et al. Eur J Hum Genet, 2012 Sep. PMID 22395867, Free PMC Article
    2. Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. Fiermonte G, et al. J Biol Chem, 2002 May 31. PMID 11897791
    3. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. Palmieri L, et al. EMBO J, 2001 Sep 17. PMID 11566871, Free PMC Article
    4. 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. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article
    5. The mitochondrial transporter family SLC25: identification, properties and physiopathology. Palmieri F. Mol Aspects Med, 2013 Apr-Jun. PMID 23266187

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Compares and contrasts all the known human SLC25A* genes and includes functional information.
      Title: The mitochondrial transporter family SLC25: identification, properties and physiopathology.
    2. The genes CECR2, SLC25A18 and ATP6V1E1, mapping within the critical region for cat eye syndrome (CES), may be responsible for anorectal, renal and preauricular anomalies in patients with CES.
      Title: A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-aspartate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-glutamate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amino acid:proton symporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid:proton symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-aspartate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-glutamate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-glutamate transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in aspartate transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in malate-aspartate shuttle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    mitochondrial glutamate carrier 2
    Names
    glutamate/H(+) symporter 2
    solute carrier family 25 (glutamate carrier), member 18
    solute carrier family 25 (mitochondrial carrier), member 18

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303484.2 → NP_001290413.1  mitochondrial glutamate carrier 2

      See identical proteins and their annotated locations for NP_001290413.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC007666, BC031644, HY351290
      Consensus CDS
      CCDS13744.1
      UniProtKB/Swiss-Prot
      Q9H1K4
      Related
      ENSP00000382710.1, ENST00000399813.1
      Conserved Domains (1) summary
      pfam00153
      Location:4 → 97
      Mito_carr; Mitochondrial carrier protein

    2. NM_031481.3 → NP_113669.1  mitochondrial glutamate carrier 2

      See identical proteins and their annotated locations for NP_113669.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC007666, AY008285, HY351290
      Consensus CDS
      CCDS13744.1
      UniProtKB/Swiss-Prot
      Q9H1K4
      Related
      ENSP00000329033.5, ENST00000327451.11
      Conserved Domains (1) summary
      pfam00153
      Location:4 → 97
      Mito_carr; Mitochondrial carrier protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      17563498..17590995
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      18231243..18258739
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H1K4.1 GenPept UniProtKB/Swiss-Prot:Q9H1K4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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