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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
  • Low-Affinity Sodium-Lactate Cotransporter 3 4
  • SMCT2 3 4
  • Sodium-Coupled Monocarboxylate Transporter 2 3
  • 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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. GO annotations related to this gene include transporter activity and symporter activity. An important paralog of this gene is SLC5A8.

UniProtKB/Swiss-Prot 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).

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC5A12 Gene

Genomics for SLC5A12 Gene

Regulatory Elements for SLC5A12 Gene

Enhancers for SLC5A12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G026573 0.8 FANTOM5 ENCODE 1.4 +150.4 150433 0.7 TEAD4 RBBP5 MUC15 ANO3 SLC5A12 GC11M026667
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC5A12 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC5A12 Gene

Chromosome:
11
Start:
26,667,019 bp from pter
End:
26,723,427 bp from pter
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 isoforms=480
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC5A12 Gene

Domains & Families for SLC5A12 Gene

Gene Families for SLC5A12 Gene

Protein Domains for SLC5A12 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC5A12 Gene

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 EnzymeRegulation:
Cotransport of monocarboxylates and nicotinate strongly inhibited by ibuprofen, fenoprofen and ketoprofen.
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).

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 IEA --
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC5A12: view

Phenotypes for SLC5A12 Gene

GenomeRNAi human phenotypes for SLC5A12:
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

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 5

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 IDA 19056867
genes like me logo Genes that share ontologies with SLC5A12: view

Pathways & Interactions for SLC5A12 Gene

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

Interacting Proteins for SLC5A12 Gene

Gene Ontology (GO) - Biological Process for SLC5A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport TAS --
GO:0006814 sodium ion transport IEA --
GO:0035873 lactate transmembrane transport IEA --
GO:0055085 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
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with SLC5A12: view

Transcripts for SLC5A12 Gene

Unigene Clusters for SLC5A12 Gene

Solute carrier family 5 (sodium/glucose cotransporter), member 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
SLC5A12

Expression for SLC5A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SLC5A12 Gene



Protein tissue co-expression partners for SLC5A12 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC5A12 Gene:

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

Primer Products

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 34 35
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia SLC5A12 34 35
  • 88.55 (n)
cow
(Bos Taurus)
Mammalia SLC5A12 34 35
  • 88.42 (n)
mouse
(Mus musculus)
Mammalia Slc5a12 34 16 35
  • 84.84 (n)
rat
(Rattus norvegicus)
Mammalia Slc5a12 34
  • 83.44 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC5A12 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC5A12 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC5A12 34 35
  • 70.52 (n)
lizard
(Anolis carolinensis)
Reptilia SLC5A12 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc5a12 34
  • 68.34 (n)
zebrafish
(Danio rerio)
Actinopterygii slc5a12 34 35
  • 66 (n)
zgc64037 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004199 34
  • 50.55 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10444 34
  • 49.49 (n)
CG6723 35
  • 32 (a)
ManyToMany
Smvt 35
  • 31 (a)
ManyToMany
CG2187 35
  • 30 (a)
ManyToMany
CG5687 35
  • 30 (a)
ManyToMany
CG8451 35
  • 30 (a)
ManyToMany
CG9657 35
  • 30 (a)
ManyToMany
salt 35
  • 30 (a)
ManyToMany
CG31262 35
  • 29 (a)
ManyToMany
CG31668 35
  • 29 (a)
ManyToMany
CG33124 35
  • 28 (a)
ManyToMany
CG42235 35
  • 27 (a)
ManyToMany
CG7720 35
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ZK822.5 34 35
  • 44.42 (n)
F52H2.4 35
  • 28 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for SLC5A12 Gene

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

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

Variants for SLC5A12 Gene

Sequence variations from dbSNP and Humsavar for SLC5A12 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000007018 -- 26,687,727(+) ATCTT(G/T)GAGGC intron-variant
rs1000026764 -- 26,681,072(+) ACTGG(A/G)GGCCC nc-transcript-variant, reference, synonymous-codon
rs1000202236 -- 26,675,507(+) AAGTT(C/T)GTCAA intron-variant
rs1000233446 -- 26,681,653(+) AGCAG(A/T)GTCCC intron-variant
rs1000320569 -- 26,688,048(+) AGGCA(A/G)CCATC intron-variant

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)

Relevant External Links 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

Relevant External Links for SLC5A12

Genetic Association Database (GAD)
SLC5A12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 P.D. (Biochim. Biophys. Acta 2007) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64
  4. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PMID: 19056867) Gonzales P.A. … Knepper M.A. (J. Am. Soc. Nephrol. 2009) 3 64
  5. Genome-wide association with diabetes-related traits in the Framingham Heart Study. (PMID: 17903298) Meigs J.B. … Dupuis J. (BMC Med. Genet. 2007) 46 64

Products for SLC5A12 Gene

Sources for SLC5A12 Gene

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