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SLC16A12 solute carrier family 16 member 12 [ Homo sapiens (human) ]

Gene ID: 387700, updated on 5-Mar-2024

Summary

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Official Symbol
SLC16A12provided by HGNC
Official Full Name
solute carrier family 16 member 12provided by HGNC
Primary source
HGNC:HGNC:23094
See related
Ensembl:ENSG00000152779 MIM:611910; AllianceGenome:HGNC:23094
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
CJMG; CRT2; MCT12; CTRCT47
Summary
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]
Expression
Biased expression in kidney (RPKM 36.5), placenta (RPKM 6.6) and 1 other tissue See more
Orthologs
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Genomic context

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See SLC16A12 in Genome Data Viewer
Location:
10q23.31
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (89430299..89556704, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (90314133..90419429, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (91190056..91295351, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3749 Neighboring gene uncharacterized LOC107984251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3751 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3752 Neighboring gene interferon induced protein with tetratricopeptide repeats 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:91181772-91182971 Neighboring gene interferon induced protein with tetratricopeptide repeats 5 Neighboring gene SLC16A12 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91236124-91236624 Neighboring gene NANOG hESC enhancer GRCh37_chr10:91250383-91250884 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:91293618-91294517 Neighboring gene OCT4 hESC enhancer GRCh37_chr10:91318626-91319150 Neighboring gene pantothenate kinase 1 Neighboring gene microRNA 107 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:91396001-91396502 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2594 Neighboring gene PANK1 antisense RNA 1

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. Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter. Takahashi M, et al. Drug Metab Pharmacokinet, 2020 Jun. PMID 32249133
  2. Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract. Zuercher J, et al. Invest Ophthalmol Vis Sci, 2010 Jul. PMID 20181839, Free PMC Article
  3. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Kloeckener-Gruissem B, et al. Am J Hum Genet, 2008 Mar. PMID 18304496, Free PMC Article
  4. Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells. Jomura R, et al. Biochim Biophys Acta Biomembr, 2020 Nov 1. PMID 32781157
  5. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Stäubli A, et al. Hum Mol Genet, 2017 Nov 1. PMID 29088427

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells.
    Title: Monocarboxylate transporter 12 as a guanidinoacetate efflux transporter in renal proximal tubular epithelial cells.
  2. Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter.
    Title: Functional characterization of monocarboxylate transporter 12 (SLC16A12/MCT12) as a facilitative creatine transporter.
  3. We screened the coding exons of the gene SLC16A12 in 877 patients. Their impact on creatine transport was tested in Xenopus laevis oocytes and human HEK293T cells. Four variants (p.Ser158Pro, p.Gly205Val, p.Pro395Gln and p.Ser453Arg) displayed severe reduction in both model systems. Our findings provide insight into molecular requirements of creatine transporter.
    Title: Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
  4. our data indicate that MCT12 functions as a basolateral exit pathway for creatine in the proximal tubule. Heterozygous mutation of MCT12 affects systemic levels and renal handling of guanidinoacetate, possibly through an indirect mechanism. Furthermore, our data reveal a digenic syndrome in the index family, with simultaneous MCT12 and SGLT2 mutation. Thus, glucosuria is not part of the MCT12 mutation syndrome
    Title: Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
  5. study identified a second creatine transporter monocarboxylate transporter 12 (MCT12), encoded by the cataract and glucosuria associated gene SLC16A12; Rssults show SLC6A8 was predominantly found in brain, heart and muscle, while SLC16A12 was more abundant in kidney and retina. In the lens, the two transcripts were found at comparable levels.
    Title: The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
  6. The monocarboxylate transporter SLC16A12 may contribute to age-related cataract. Sequences within the 5'UTR modulate translational efficiency with pathogenic consequences.
    Title: Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
  8. SLC16A12 is important for lens and kidney homeostasis; its potential role in age-related cataract is discussed.
    Title: Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.
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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

Associated conditions

Description Tests
Juvenile cataract-microcornea-renal glucosuria syndrome
MedGen: C4310806 OMIM: 612018 GeneReviews: Not available
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Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2011-12-21)

ClinGen Genome Curation Page
Haploinsufficency

Little evidence for dosage pathogenicity (Last evaluated 2011-12-21)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of solute carrier family 16, member 12 (SLC16A12) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686E188

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables creatine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables monocarboxylic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables uniporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in creatine transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in creatine transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in creatinine metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in basolateral plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
monocarboxylate transporter 12
Names
creatine transporter 2
monocarboxylic acid 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.

Genomic

  1. NG_021179.1 RefSeqGene

    Range
    4963..110258
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_213606.4 → NP_998771.3  monocarboxylate transporter 12

    Status: VALIDATED

    Source sequence(s)
    AK127303, AL353146, AL355342, BC086873
    Consensus CDS
    CCDS7404.2
    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
    Related
    ENSP00000360855.4, ENST00000371790.5
    Conserved Domains (1) summary
    cl26868
    Location:42 → 481
    2A0111; oxalate/formate antiporter family transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    89430299..89556704 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047425223.1 → XP_047281179.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

  2. XM_047425221.1 → XP_047281177.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

  3. XM_047425222.1 → XP_047281178.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76

  4. XM_017016237.3 → XP_016871726.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
    Conserved Domains (1) summary
    cl26868
    Location:42 → 481
    2A0111; oxalate/formate antiporter family transporter

  5. XM_017016239.2 → XP_016871728.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
    Conserved Domains (1) summary
    cl26868
    Location:42 → 481
    2A0111; oxalate/formate antiporter family transporter

  6. XM_017016238.2 → XP_016871727.1  monocarboxylate transporter 12 isoform X1

    UniProtKB/Swiss-Prot
    E9PSF9, Q5M9M9, Q5T7J2, Q6ZSM3, Q6ZV76
    Conserved Domains (1) summary
    cl26868
    Location:42 → 481
    2A0111; oxalate/formate antiporter family transporter

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    90314133..90419429 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZSM3.3 GenPept UniProtKB/Swiss-Prot:Q6ZSM3

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