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    Slc16a12 solute carrier family 16 (monocarboxylic acid transporters), member 12 [ Mus musculus (house mouse) ]

    Gene ID: 240638, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Slc16a12provided by MGI
    Official Full Name
    solute carrier family 16 (monocarboxylic acid transporters), member 12provided by MGI
    Primary source
    MGI:MGI:2147716
    See related
    Ensembl:ENSMUSG00000009378 AllianceGenome:MGI:2147716
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    MCT 12; 3230401A21
    Summary
    Predicted to enable creatine transmembrane transporter activity; monocarboxylic acid transmembrane transporter activity; and uniporter activity. Predicted to be involved in creatine transmembrane transport and creatinine metabolic process. Located in basolateral plasma membrane. Is expressed in several structures, including brain ventricle and choroid plexus; endocardial tissue; metanephros; olfactory epithelium; and pancreas. Human ortholog(s) of this gene implicated in cataract 47. Orthologous to human SLC16A12 (solute carrier family 16 member 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in kidney adult (RPKM 20.0), liver adult (RPKM 8.6) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Slc16a12 in Genome Data Viewer
    Location:
    19 C1; 19 29.79 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (34645801..34725223, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (34668401..34747493, complement)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene interferon induced protein with tetratricpeptide repeats 1B like 1 Neighboring gene interferon induced protein with tetratricopeptide repeats 1B like 2 Neighboring gene calponin2, pseudogene Neighboring gene STARR-seq mESC enhancer starr_45998 Neighboring gene STARR-positive B cell enhancer ABC_E9997 Neighboring gene interferon-induced protein with tetratricopeptide repeats 1 Neighboring gene STARR-seq mESC enhancer starr_46000 Neighboring gene 60S ribosomal protein L36a-like Neighboring gene predicted gene, 18425 Neighboring gene STARR-seq mESC enhancer starr_46002 Neighboring gene STARR-seq mESC enhancer starr_46003 Neighboring gene STARR-seq mESC enhancer starr_46004 Neighboring gene predicted gene, 22082 Neighboring gene pantothenate kinase 1 Neighboring gene microRNA 107

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria. Dhayat N, et al. J Am Soc Nephrol, 2016 May. PMID 26376857, Free PMC Article
    2. Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane. Castorino JJ, et al. Invest Ophthalmol Vis Sci, 2011 Aug 29. PMID 21778275, Free PMC Article
    3. Identification of transcripts with enriched expression in the developing and adult pancreas. Hoffman BG, et al. Genome Biol, 2008. PMID 18554416, Free PMC Article
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. a model whereby the SLC16A12 (c.643C>T) mutation causes juvenile cataract by a defect in protein trafficking rather than by haploinsufficiency.
      Title: Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1) 

    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 MGI

    Function Evidence Code Pubs
    enables creatine transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables creatine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables uniporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables uniporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in creatine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in creatine transmembrane transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in creatine transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in creatinine metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in creatinine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    monocarboxylate 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.

    mRNA and Protein(s)

    1. NM_172838.4 → NP_766426.1  monocarboxylate transporter 12

      Status: VALIDATED

      Source sequence(s)
      AC016791, AC125259
      Consensus CDS
      CCDS29767.1
      UniProtKB/Swiss-Prot
      Q14CF9, Q14DR7, Q8BGC3
      Related
      ENSMUSP00000009522.4, ENSMUST00000009522.4
      Conserved Domains (1) summary
      cd17424
      Location:18 → 431
      MFS_MCT12; Monocarboxylate transporter 12 of the of the Major Facilitator Superfamily of transporters

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000085.7 Reference GRCm39 C57BL/6J

      Range
      34645801..34725223 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006527078.5 → XP_006527141.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      Q14CF9, Q14DR7, Q8BGC3
      Conserved Domains (1) summary
      cd17424
      Location:18 → 431
      MFS_MCT12; Monocarboxylate transporter 12 of the of the Major Facilitator Superfamily of transporters

    2. XM_011247246.3 → XP_011245548.1  monocarboxylate transporter 12 isoform X1

      UniProtKB/Swiss-Prot
      Q14CF9, Q14DR7, Q8BGC3
      Conserved Domains (1) summary
      cd17424
      Location:18 → 431
      MFS_MCT12; Monocarboxylate transporter 12 of the of the Major Facilitator Superfamily of transporters

    3. XM_006527079.4 → XP_006527142.1  monocarboxylate transporter 12 isoform X2

      Conserved Domains (1) summary
      cl28910
      Location:22 → 416
      MFS; Major Facilitator Superfamily
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BGC3.1 GenPept UniProtKB/Swiss-Prot:Q8BGC3

    Gene LinkOut

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

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