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 ... See more...

Aliases for SLC5A12 Gene

Aliases for SLC5A12 Gene

  • Solute Carrier Family 5 Member 12 2 3 4 5
  • Solute Carrier Family 5 (Sodium/Monocarboxylate Cotransporter), Member 12 2 3
  • Solute Carrier Family 5 (Sodium/Glucose Cotransporter), Member 12 2 3
  • Electroneutral Sodium Monocarboxylate Cotransporter 3 4
  • Sodium-Coupled Monocarboxylate Transporter 2 3 4
  • Low-Affinity Sodium-Lactate Cotransporter 3 4
  • SMCT2 3 4
  • Sodium-Iodide Related Cotransporter 3

External Ids for SLC5A12 Gene

Previous GeneCards Identifiers for SLC5A12 Gene

  • GC11M026386

Summaries for SLC5A12 Gene

Entrez Gene Summary for SLC5A12 Gene

  • 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]

GeneCards Summary for SLC5A12 Gene

SLC5A12 (Solute Carrier Family 5 Member 12) is a Protein Coding gene. Among its related pathways are NRF2 pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC5A8.

UniProtKB/Swiss-Prot Summary for SLC5A12 Gene

  • Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity).

Additional gene information for SLC5A12 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC5A12 Gene

Genomics for SLC5A12 Gene

GeneHancer (GH) Regulatory Elements for SLC5A12 Gene

Promoters and enhancers for SLC5A12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J027211 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 500 -492.7 -492741 8.9 EP300 JUND FOS CTCF ZIC2 MXI1 ZNF341 RBM25 NR2F2 DEK lnc-BBOX1-2 SLC5A12 BBOX1-AS1 CCDC34 LIN7C LOC105376600 piR-45012-077 piR-46002-084 lnc-BBOX1-13
GH11J026716 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 500.7 +3.3 3259 6.5 ZNF316 MAFF MAFK RAD21 ZNF34 CTCF EZH2 SLC5A12 lnc-MUC15-2
GH11J026573 Enhancer 0.6 FANTOM5 ENCODE 1.4 +150.4 150432 0.7 USF1 TEAD4 ZBTB33 RBBP5 MUC15 ANO3 SLC5A12 piR-39401-005
GH11J026730 Enhancer 0.5 ENCODE 0.4 -7.6 -7563 1.2 ATF2 CEBPB JUN ZFHX2 JUND ZNF362 FOS ATF7 BDNF piR-32325-025 SLC5A12
GH11J026702 Enhancer 0.4 Ensembl 0.4 +22.3 22326 0.2 POLR2A RCOR1 SMARCA4 CHD2 SLC5A12 lnc-MUC15-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC5A12 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC5A12

Top Transcription factor binding sites by QIAGEN in the SLC5A12 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HNF-1
  • HNF-1A
  • Nkx6-1
  • TBP

Genomic Locations for SLC5A12 Gene

Genomic Locations for SLC5A12 Gene
chr11:26,667,019-26,723,427
(GRCh38/hg38)
Size:
56,409 bases
Orientation:
Minus strand
chr11:26,688,566-26,744,974
(GRCh37/hg19)
Size:
56,409 bases
Orientation:
Minus strand

Genomic View for SLC5A12 Gene

Genes around SLC5A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC5A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC5A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC5A12 Gene

Proteins for SLC5A12 Gene

  • Protein details for SLC5A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q1EHB4-SC5AC_HUMAN
    Recommended name:
    Sodium-coupled monocarboxylate transporter 2
    Protein Accession:
    Q1EHB4
    Secondary Accessions:
    • Q86UC7

    Protein attributes for SLC5A12 Gene

    Size:
    618 amino acids
    Molecular mass:
    67647 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SLC5A12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC5A12 Gene

Post-translational modifications for SLC5A12 Gene

  • Glycosylation at Asn480
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC5A12 Gene

Domains & Families for SLC5A12 Gene

Protein Domains for SLC5A12 Gene

Blocks:
  • Na+/solute symporter
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A12 Gene

GenScript: Design optimal peptide antigens:
  • Solute carrier family 5 (Sodium/glucose cotransporter), member 12, isoform CRA_c (Q8IUS7_HUMAN)
  • Solute carrier family 5 member 12 (SC5AC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q1EHB4

UniProtKB/Swiss-Prot:

SC5AC_HUMAN :
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
Family:
  • Belongs to the sodium:solute symporter (SSF) (TC 2.A.21) family.
genes like me logo Genes that share domains with SLC5A12: view

Function for SLC5A12 Gene

Molecular function for SLC5A12 Gene

UniProtKB/Swiss-Prot Function:
Acts as an electroneutral and low-affinity sodium (Na(+))-dependent sodium-coupled solute transporter. Catalyzes the transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, nicotinate, propionate, butyrate and beta-D-hydroxybutyrate. May be responsible for the first step of reabsorption of monocarboxylates from the lumen of the proximal tubule of the kidney and the small intestine. May play also a role in monocarboxylates transport in the retina (By similarity). Mediates electroneutral uptake of lactate, with a stoichiometry of 2 Na(+) for each lactate (By similarity).
UniProtKB/Swiss-Prot EnzymeRegulation:
Cotransport of monocarboxylates and nicotinate strongly inhibited by ibuprofen, fenoprofen and ketoprofen.

Phenotypes From GWAS Catalog for SLC5A12 Gene

Gene Ontology (GO) - Molecular Function for SLC5A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005343 organic acid:sodium symporter activity TAS --
GO:0015129 lactate transmembrane transporter activity IBA 21873635
GO:0015293 symporter activity IEA --
GO:0022857 transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A12: view
genes like me logo Genes that share phenotypes with SLC5A12: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC5A12

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A12

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SLC5A12 Gene

Localization for SLC5A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC5A12 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Detected at the brush border membrane of the kidney. Colocalizes with viementin in Mueller cells (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC5A12 gene
Compartment Confidence
plasma membrane 5
extracellular 1
mitochondrion 1
peroxisome 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for SLC5A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with SLC5A12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SLC5A12 Gene

Pathways & Interactions for SLC5A12 Gene

genes like me logo Genes that share pathways with SLC5A12: view

Gene Ontology (GO) - Biological Process for SLC5A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0035873 lactate transmembrane transport IEA --
GO:0055085 transmembrane transport IEA --
GO:1903825 organic acid transmembrane transport IEA --
genes like me logo Genes that share ontologies with SLC5A12: view

No data available for SIGNOR curated interactions for SLC5A12 Gene

Drugs & Compounds for SLC5A12 Gene

(1) Additional Compounds for SLC5A12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A12: view

Transcripts for SLC5A12 Gene

mRNA/cDNA for SLC5A12 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC5A12

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC5A12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - -
SP2: -
SP3: -

Relevant External Links for SLC5A12 Gene

GeneLoc Exon Structure for
SLC5A12

Expression for SLC5A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC5A12 Gene

mRNA differential expression in normal tissues according to GTEx for SLC5A12 Gene

This gene is overexpressed in Kidney - Cortex (x38.2) and Small Intestine - Terminal Ileum (x8.1).

Protein differential expression in normal tissues from HIPED for SLC5A12 Gene

This gene is overexpressed in Urine (58.3) and Kidney (10.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SLC5A12 Gene



Protein tissue co-expression partners for SLC5A12 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SLC5A12

SOURCE GeneReport for Unigene cluster for SLC5A12 Gene:

Hs.148907

Evidence on tissue expression from TISSUES for SLC5A12 Gene

  • Intestine(4.3)
  • Kidney(3.7)
genes like me logo Genes that share expression patterns with SLC5A12: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC5A12 Gene

Orthologs for SLC5A12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC5A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC5A12 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SLC5A12 31 30
  • 88.55 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SLC5A12 31 30
  • 88.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Slc5a12 17 31 30
  • 84.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a12 30
  • 83.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A12 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A12 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A12 31 30
  • 70.52 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC5A12 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a12 30
  • 68.34 (n)
zebrafish
(Danio rerio)
Actinopterygii slc5a12 31 30
  • 66 (n)
OneToOne
zgc64037 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004199 30
  • 50.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10444 30
  • 49.49 (n)
CG6723 31
  • 32 (a)
ManyToMany
Smvt 31
  • 31 (a)
ManyToMany
CG9657 31
  • 30 (a)
ManyToMany
salt 31
  • 30 (a)
ManyToMany
CG8451 31
  • 30 (a)
ManyToMany
CG5687 31
  • 30 (a)
ManyToMany
CG2187 31
  • 30 (a)
ManyToMany
CG31262 31
  • 29 (a)
ManyToMany
CG31668 31
  • 29 (a)
ManyToMany
CG33124 31
  • 28 (a)
ManyToMany
CG42235 31
  • 27 (a)
ManyToMany
CG7720 31
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZK822.5 31 30
  • 44.42 (n)
ManyToMany
F52H2.4 31
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
ManyToMany
Species where no ortholog for SLC5A12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC5A12 Gene

ENSEMBL:
Gene Tree for SLC5A12 (if available)
TreeFam:
Gene Tree for SLC5A12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SLC5A12: view image

Paralogs for SLC5A12 Gene

(3) SIMAP similar genes for SLC5A12 Gene using alignment to 4 proteins:

  • SC5AC_HUMAN
  • E9PLZ7_HUMAN
  • G3V1E3_HUMAN
  • Q8IUS7_HUMAN
genes like me logo Genes that share paralogs with SLC5A12: view

Variants for SLC5A12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC5A12 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs12278761 - p.Val510Leu

Additional dbSNP identifiers (rs#s) for SLC5A12 Gene

Structural Variations from Database of Genomic Variants (DGV) for SLC5A12 Gene

Variant ID Type Subtype PubMed ID
esv1423248 CNV insertion 17803354
esv3625755 CNV loss 21293372
nsv1111050 CNV tandem duplication 24896259
nsv39059 CNV deletion 16902084
nsv819331 CNV gain 19587683

Variation tolerance for SLC5A12 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.61; 72.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SLC5A12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC5A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC5A12 Gene

Disorders for SLC5A12 Gene

Additional Disease Information for SLC5A12

No disorders were found for SLC5A12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SLC5A12 Gene

Publications for SLC5A12 Gene

  1. Cloning and functional characterization of human SMCT2 (SLC5A12) and expression pattern of the transporter in kidney. (PMID: 17692818) Gopal E … Prasad PD (Biochimica et biophysica acta 2007) 2 3 4 54
  2. Identification of the multivalent PDZ protein PDZK1 as a binding partner of sodium-coupled monocarboxylate transporter SMCT1 (SLC5A8) and SMCT2 (SLC5A12). (PMID: 30604288) Srivastava S … Anzai N (The journal of physiological sciences : JPS 2019) 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for SLC5A12 Gene

Sources for SLC5A12 Gene