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Aliases for SLC16A12 Gene

Aliases for SLC16A12 Gene

  • Solute Carrier Family 16 Member 12 2 3 4 5
  • Monocarboxylic Acid Transporter 12 2 3
  • Creatine Transporter 2 3 4
  • MCT12 3 4
  • CRT2 3 4
  • Solute Carrier Family 16, Member 12 (Monocarboxylic Acid Transporter 12) 2
  • Solute Carrier Family 16 (Monocarboxylic Acid Transporters), Member 12 2
  • Solute Carrier Family 16, Member 12 2
  • Monocarboxylate Transporter 12 3
  • CTRCT47 3
  • MCT 12 4
  • CJMG 3

External Ids for SLC16A12 Gene

Previous GeneCards Identifiers for SLC16A12 Gene

  • GC00U913090
  • GC10M090857
  • GC10U900559
  • GC10M091181
  • GC10M084824

Summaries for SLC16A12 Gene

Entrez Gene Summary for SLC16A12 Gene

  • 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]

GeneCards Summary for SLC16A12 Gene

SLC16A12 (Solute Carrier Family 16 Member 12) is a Protein Coding gene. Diseases associated with SLC16A12 include Cataract, Juvenile, With Microcornea And Glucosuria and Cataract 47. GO annotations related to this gene include symporter activity and creatine transmembrane transporter activity. An important paralog of this gene is SLC16A3.

UniProtKB/Swiss-Prot for SLC16A12 Gene

  • Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC16A12 Gene

Genomics for SLC16A12 Gene

Regulatory Elements for SLC16A12 Gene

Enhancers for SLC16A12 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
GH10G089514 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.5 +39.4 39368 6.2 ZBTB21 JUN SIN3A RAD21 ZNF316 FOS MAFK NFE2L2 BHLHE40 MAFG SLC16A12-AS1 IFIT5 SLC16A12 GC10P089485
GH10G089477 1 Ensembl ENCODE 5.9 +76.1 76094 5.3 CTCF JUN ZSCAN4 TEAD4 MAX RBBP5 RAD21 RFX5 YY1 POLR2A SLC16A12-AS1 SLC16A12 IFIT5 LIPA GC10P089485
GH10G089490 0.7 ENCODE 6.3 +65.9 65856 1.2 FEZF1 BCL11B ZBTB40 ZNF843 OSR2 PRDM6 ZNF366 HNF4A PRDM4 ZXDB SLC16A12 LIPA IFIT5 GC10P089485
GH10G089533 0.7 ENCODE 5.8 +21.6 21577 2.4 ZNF263 ZNF202 CTCF SP3 RNF2 MAX CHD1 RBBP5 CHD7 ZKSCAN1 SLC16A12-AS1 SLC16A12 GC10P089485
GH10G089468 0.5 ENCODE 5.7 +88.0 87992 1.0 JUND ATF3 ZNF652 RBFOX2 FOXA1 SLC16A12 SLC16A12-AS1 GC10P089485
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC16A12 on UCSC Golden Path with GeneCards custom track

Genomic Location for SLC16A12 Gene

Chromosome:
10
Start:
89,430,294 bp from pter
End:
89,556,641 bp from pter
Size:
126,348 bases
Orientation:
Minus strand

Genomic View for SLC16A12 Gene

Genes around SLC16A12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC16A12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC16A12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC16A12 Gene

Proteins for SLC16A12 Gene

  • Protein details for SLC16A12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZSM3-MOT12_HUMAN
    Recommended name:
    Monocarboxylate transporter 12
    Protein Accession:
    Q6ZSM3
    Secondary Accessions:
    • Q5M9M9
    • Q5T7J2
    • Q6ZV76

    Protein attributes for SLC16A12 Gene

    Size:
    486 amino acids
    Molecular mass:
    53075 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC85987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for SLC16A12 Gene

Post-translational modifications for SLC16A12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SLC16A12 Gene

No data available for DME Specific Peptides for SLC16A12 Gene

Domains & Families for SLC16A12 Gene

Gene Families for SLC16A12 Gene

Protein Domains for SLC16A12 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC16A12 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZSM3

UniProtKB/Swiss-Prot:

MOT12_HUMAN :
  • Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
Family:
  • Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family.
genes like me logo Genes that share domains with SLC16A12: view

Function for SLC16A12 Gene

Molecular function for SLC16A12 Gene

UniProtKB/Swiss-Prot Function:
Proton-linked monocarboxylate transporter that mediates creatine transport across the plasma membrane.

Gene Ontology (GO) - Molecular Function for SLC16A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005308 creatine transmembrane transporter activity IDA 23578822
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC16A12: view
genes like me logo Genes that share phenotypes with SLC16A12: view

Human Phenotype Ontology for SLC16A12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for SLC16A12

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SLC16A12 Gene

Localization for SLC16A12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC16A12 Gene

Cell membrane; Multi-pass membrane protein.

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 SLC16A12 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for SLC16A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane IDA 23578822
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SLC16A12: view

Pathways & Interactions for SLC16A12 Gene

SuperPathways for SLC16A12 Gene

No Data Available

Interacting Proteins for SLC16A12 Gene

Gene Ontology (GO) - Biological Process for SLC16A12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0055085 transmembrane transport IEA --
GO:1902598 creatine transmembrane transport IDA 23578822
genes like me logo Genes that share ontologies with SLC16A12: view

No data available for Pathways by source and SIGNOR curated interactions for SLC16A12 Gene

Drugs & Compounds for SLC16A12 Gene

No Compound Related Data Available

Transcripts for SLC16A12 Gene

mRNA/cDNA for SLC16A12 Gene

Unigene Clusters for SLC16A12 Gene

Solute carrier family 16, member 12 (monocarboxylic acid transporter 12):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC16A12 Gene

No ASD Table

Relevant External Links for SLC16A12 Gene

GeneLoc Exon Structure for
SLC16A12
ECgene alternative splicing isoforms for
SLC16A12

Expression for SLC16A12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SLC16A12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC16A12 Gene

This gene is overexpressed in Pancreas (x11.4), Kidney - Cortex (x8.8), and Nerve - Tibial (x5.3).

NURSA nuclear receptor signaling pathways regulating expression of SLC16A12 Gene:

SLC16A12

SOURCE GeneReport for Unigene cluster for SLC16A12 Gene:

Hs.530338

mRNA Expression by UniProt/SwissProt for SLC16A12 Gene:

Q6ZSM3-MOT12_HUMAN
Tissue specificity: Most highly expressed in kidney, followed by retina, lung, heart and testis. Very weakly expressed in brain and liver. Also detected in lens.

Evidence on tissue expression from TISSUES for SLC16A12 Gene

  • Muscle(4.1)
  • Nervous system(4.1)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC16A12 Gene

Germ Layers:
  • ectoderm
Systems:
  • nervous
Organs:
Head and neck:
  • eye
  • head
genes like me logo Genes that share expression patterns with SLC16A12: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for SLC16A12 Gene

Orthologs for SLC16A12 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC16A12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC16A12 34 35
  • 99.61 (n)
dog
(Canis familiaris)
Mammalia SLC16A12 34 35
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia SLC16A12 34 35
  • 90.63 (n)
mouse
(Mus musculus)
Mammalia Slc16a12 34 16 35
  • 84.57 (n)
rat
(Rattus norvegicus)
Mammalia Slc16a12 34
  • 84.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SLC16A12 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC16A12 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC16A12 34 35
  • 74.62 (n)
lizard
(Anolis carolinensis)
Reptilia SLC16A12 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc16a12 34
  • 70.28 (n)
MGC76256 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.21144 34
zebrafish
(Danio rerio)
Actinopterygii slc16a12b 34 35
  • 63.62 (n)
slc16a12a 35
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Mct1 34
  • 47.25 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000040 34
  • 46.11 (n)
worm
(Caenorhabditis elegans)
Secernentea T02G5.12 34
  • 46.87 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
OneToMany
Species where no ortholog for SLC16A12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 SLC16A12 Gene

ENSEMBL:
Gene Tree for SLC16A12 (if available)
TreeFam:
Gene Tree for SLC16A12 (if available)

Paralogs for SLC16A12 Gene

(11) SIMAP similar genes for SLC16A12 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC16A12: view

Variants for SLC16A12 Gene

Sequence variations from dbSNP and Humsavar for SLC16A12 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs121909386 Pathogenic 89,438,899(-) GAACT(C/T)AGAAA reference, stop-gained
rs786205460 Likely pathogenic 89,441,152(-) ATTTG(C/T)CACGA reference, missense
rs150800688 Uncertain significance 89,439,160(+) TGGAG(A/G)GTAAC reference, missense
rs758404955 Uncertain significance 89,439,022(+) TCCCC(A/G)CCAGG reference, missense
rs1000047068 -- 89,476,016(+) TTCTG(C/T)AGTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC16A12 Gene

Variant ID Type Subtype PubMed ID
esv3579065 CNV loss 25503493
esv3579066 CNV loss 25503493
esv3579067 CNV loss 25503493
esv3624159 CNV loss 21293372

Variation tolerance for SLC16A12 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.90; 48.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC16A12 Gene

Human Gene Mutation Database (HGMD)
SLC16A12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC16A12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC16A12 Gene

Disorders for SLC16A12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SLC16A12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract, juvenile, with microcornea and glucosuria
  • cataract, juvenile with microcornea and glucosuria
cataract 47
  • cataract 47, juvenile, with microcornea
renal glucosuria
  • renal glycosuria
glutaric acidemia iic
  • glutaric acidemia iia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

MOT12_HUMAN
  • Cataract 47 (CTRCT47) [MIM:612018]: A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies. {ECO:0000269 PubMed:18304496}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SLC16A12

Genetic Association Database (GAD)
SLC16A12
Human Genome Epidemiology (HuGE) Navigator
SLC16A12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC16A12
genes like me logo Genes that share disorders with SLC16A12: view

No data available for Genatlas for SLC16A12 Gene

Publications for SLC16A12 Gene

  1. The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter. (PMID: 23578822) Abplanalp J. … Kloeckener-Gruissem B. (Hum. Mol. Genet. 2013) 3 4 64
  2. Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. (PMID: 20181839) Zuercher J. … Kloeckener-Gruissem B. (Invest. Ophthalmol. Vis. Sci. 2010) 3 46 64
  3. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (PMID: 18304496) Kloeckener-Gruissem B. … Berger W. (Am. J. Hum. Genet. 2008) 3 4 64
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
  5. Differential effects of Tat proteins derived from HIV-1 subtypes B and recombinant CRF02_AG on human brain microvascular endothelial cells: implications for blood-brain barrier dysfunction. (PMID: 24667918) Woollard S.M. … Kanmogne G.D. (J. Cereb. Blood Flow Metab. 2014) 3 64

Products for SLC16A12 Gene

Sources for SLC16A12 Gene

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