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    SLC5A12 solute carrier family 5 member 12 [ Homo sapiens (human) ]

    Gene ID: 159963, updated on 26-Nov-2024

    Summary

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    Official Symbol
    SLC5A12provided by HGNC
    Official Full Name
    solute carrier family 5 member 12provided by HGNC
    Primary source
    HGNC:HGNC:28750
    See related
    Ensembl:ENSG00000148942 MIM:612455; AllianceGenome:HGNC:28750
    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
    SMCT2
    Summary
    Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]
    Expression
    Restricted expression toward kidney (RPKM 72.2) See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC5A12 in Genome Data Viewer
    Location:
    11p14.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (26667020..26723389, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (26807576..26862868, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (26688567..26743607, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene anoctamin 3 Neighboring gene uncharacterized LOC124902648 Neighboring gene uncharacterized LOC107987160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4542 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:26707661-26708860 Neighboring gene uncharacterized LOC124902649 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:26971346-26971846 Neighboring gene 11p14.2 distal LINE-mediated recombination region Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:26986897-26987409 Neighboring gene uncharacterized LOC124902650

    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. Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring. Pucino V, et al. Cell Metab, 2019 Dec 3. PMID 31708446, Free PMC Article
    2. Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12). Srivastava S, et al. J Physiol Sci, 2019 Mar. PMID 30604288, Free PMC Article
    3. Cloning and functional characterization of human SMCT2 (SLC5A12) and expression pattern of the transporter in kidney. Gopal E, et al. Biochim Biophys Acta, 2007 Nov. PMID 17692818, Free PMC Article
    4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
    5. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring.
      Title: Lactate Buildup at the Site of Chronic Inflammation Promotes Disease by Inducing CD4(+) T Cell Metabolic Rewiring.
    2. Results indicate that the SMCT1-PDZK1 interaction thus plays an important role in both lactate handling as well as urate reabsorption in the human kidney.
      Title: Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12).
    3. low-affinity transporter SMCT2 initiates lactate absorption in the early parts of the proximal tubule followed by the participation of the high-affinity transporter SMCT1 in the latter parts of the proximal tubule.
      Title: Cloning and functional characterization of human SMCT2 (SLC5A12) and expression pattern of the transporter in kidney.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lactate transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monocarboxylate:sodium symporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables organic acid:sodium symporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables symporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in lactate transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monoatomic ion transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in monocarboxylic acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sodium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    sodium-coupled monocarboxylate transporter 2
    Names
    electroneutral sodium monocarboxylate cotransporter
    low-affinity sodium-lactate cotransporter
    sodium-iodide related cotransporter
    solute carrier family 5 (sodium/glucose cotransporter), member 12
    solute carrier family 5 (sodium/monocarboxylate cotransporter), member 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_178498.4 → NP_848593.2  sodium-coupled monocarboxylate transporter 2

      See identical proteins and their annotated locations for NP_848593.2

      Status: VALIDATED

      Source sequence(s)
      AC083755, AW614338, AY299482, BM924715, CN370367, CR747563
      Consensus CDS
      CCDS7860.2
      UniProtKB/Swiss-Prot
      Q1EHB4, Q86UC7
      Related
      ENSP00000379326.3, ENST00000396005.8
      Conserved Domains (1) summary
      cd11520
      Location:3 → 527
      SLC5sbd_SMCT2; Na(+)/monocarboxylate cotransporter SMCT2 and related proteins; solute-binding domain

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      26667020..26723389 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519920.3 → XP_011518222.1  sodium-coupled monocarboxylate transporter 2 isoform X3

      Conserved Domains (1) summary
      cl00456
      Location:1 → 339
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    2. XM_006718155.4 → XP_006718218.1  sodium-coupled monocarboxylate transporter 2 isoform X1

      Conserved Domains (1) summary
      cl00456
      Location:2 → 416
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    3. XM_017017244.2 → XP_016872733.1  sodium-coupled monocarboxylate transporter 2 isoform X3

      Conserved Domains (1) summary
      cl00456
      Location:1 → 339
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    4. XM_047426454.1 → XP_047282410.1  sodium-coupled monocarboxylate transporter 2 isoform X2

    5. XM_006718156.4 → XP_006718219.1  sodium-coupled monocarboxylate transporter 2 isoform X4

      Conserved Domains (1) summary
      cl00456
      Location:3 → 407
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    6. XM_011519921.3 → XP_011518223.1  sodium-coupled monocarboxylate transporter 2 isoform X5

      Related
      ENSP00000280467.6, ENST00000280467.10
      Conserved Domains (1) summary
      cl00456
      Location:3 → 385
      SLC5-6-like_sbd; Solute carrier families 5 and 6-like; solute binding domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      26807576..26862868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367820.1 → XP_054223795.1  sodium-coupled monocarboxylate transporter 2 isoform X1

    2. XM_054367822.1 → XP_054223797.1  sodium-coupled monocarboxylate transporter 2 isoform X3

    3. XM_054367823.1 → XP_054223798.1  sodium-coupled monocarboxylate transporter 2 isoform X3

    4. XM_054367821.1 → XP_054223796.1  sodium-coupled monocarboxylate transporter 2 isoform X2

    5. XM_054367824.1 → XP_054223799.1  sodium-coupled monocarboxylate transporter 2 isoform X4

    6. XM_054367825.1 → XP_054223800.1  sodium-coupled monocarboxylate transporter 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q1EHB4.2 GenPept UniProtKB/Swiss-Prot:Q1EHB4

    Gene LinkOut

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

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