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

Gene ID: 83733, updated on 5-Mar-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
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Genomic context

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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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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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