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    SLC16A12 solute carrier family 16 member 12 [ Homo sapiens (human) ]

    Gene ID: 387700, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SLC16A12provided by HGNC
    Official Full Name
    solute carrier family 16 member 12provided by HGNC
    Primary source
    HGNC:HGNC:23094
    See related
    Ensembl:ENSG00000152779 MIM:611910; AllianceGenome:HGNC:23094
    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
    CJMG; CRT2; MCT12; CTRCT47
    Summary
    This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]
    Expression
    Biased expression in kidney (RPKM 36.5), placenta (RPKM 6.6) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC16A12 in Genome Data Viewer
    Location:
    10q23.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89430299..89556704, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90314133..90419429, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (91190056..91295351, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3749 Neighboring gene uncharacterized LOC107984251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3752 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:91181772-91182971 Neighboring gene interferon induced protein with tetratricopeptide repeats 5 Neighboring gene SLC16A12 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91236124-91236624 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91250383-91250884 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:91293618-91294517 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:91318626-91319150 Neighboring gene pantothenate kinase 1 Neighboring gene microRNA 107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91396001-91396502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2594 Neighboring gene PANK1 antisense RNA 1

    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 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. Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter. Takahashi M, et al. Drug Metab Pharmacokinet, 2020 Jun. PMID 32249133
    2. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Kloeckener-Gruissem B, et al. Am J Hum Genet, 2008 Mar. PMID 18304496, Free PMC Article
    3. Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Zuercher J, et al. Invest Ophthalmol Vis Sci, 2010 Jul. PMID 20181839, Free PMC Article
    4. Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells. Jomura R, et al. Biochim Biophys Acta Biomembr, 2020 Nov 1. PMID 32781157
    5. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Stäubli A, et al. Hum Mol Genet, 2017 Nov 1. PMID 29088427

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells.
      Title: Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells.
    2. Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter.
      Title: Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter.
    3. We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter.
      Title: Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
    4. our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome
      Title: Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
    5. study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels.
      Title: The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
    6. The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences.
      Title: Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
    8. SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed.
      Title: Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.
    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

    Associated conditions

    Description Tests
    Juvenile cataract-microcornea-renal glucosuria syndrome
    MedGen: C4310806 OMIM: 612018 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2011-12-21)

    ClinGen Genome Curation Page
    Haploinsufficency

    Little evidence for dosage pathogenicity (Last evaluated 2011-12-21)

    ClinGen Genome Curation PagePubMed

    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

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of solute carrier family 16, member 12 (SLC16A12) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp686E188

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables creatine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monocarboxylic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables uniporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in creatine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in creatine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in creatinine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monocarboxylate transporter 12
    Names
    creatine transporter 2
    monocarboxylic acid transporter 12

    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.

    Genomic

    1. NG_021179.1 RefSeqGene

      Range
      4963..110258
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_213606.4 → NP_998771.3  monocarboxylate transporter 12

      Status: VALIDATED

      Source sequence(s)
      AK127303, AL353146, AL355342, BC086873
      Consensus CDS
      CCDS7404.2
      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
      Related
      ENSP00000360855.4, ENST00000371790.5
      Conserved Domains (1) summary
      cl26868
      Location:42 → 481
      2A0111; oxalate/formate antiporter family transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      89430299..89556704 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425223.1 → XP_047281179.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

    2. XM_047425221.1 → XP_047281177.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

    3. XM_047425222.1 → XP_047281178.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

    4. XM_017016237.3 → XP_016871726.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
      Conserved Domains (1) summary
      cl26868
      Location:42 → 481
      2A0111; oxalate/formate antiporter family transporter

    5. XM_017016239.2 → XP_016871728.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
      Conserved Domains (1) summary
      cl26868
      Location:42 → 481
      2A0111; oxalate/formate antiporter family transporter

    6. XM_017016238.2 → XP_016871727.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
      Conserved Domains (1) summary
      cl26868
      Location:42 → 481
      2A0111; oxalate/formate antiporter family transporter

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      90314133..90419429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6ZSM3.3 GenPept UniProtKB/Swiss-Prot:Q6ZSM3

    Gene LinkOut

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

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