SLC16A12 Gene
protein-coding GIFtS : 44
GC10M084824
solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (Previous names: solute carrier family 16 (monocarboxylic acid transporters), member 12 )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
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Aliases & Descriptionsfor SLC16A12 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section Aliases & Descriptions solute carrier family 16, member 12 (monocarboxylic acid transporter 12)1 2 DKFZp686E1882 MCT121 2 3 5 monocarboxylate transporter 122 CJMG2 5 Solute carrier family 16 member 123 solute carrier family 16 (monocarboxylic acid transporters), member 121 MCT 123
Export aliases for SLC16A12 gene to outside databases Previous GC identifers: GC00U913090 GC10M090857 GC10U900559 GC10M091181
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Summariesfor SLC16A12 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for SLC16A12 : 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) UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3 Function : Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of manymonocarboxylates (By similarity)
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Genomic Viewsfor SLC16A12 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60) ,
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences )About This Section Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SLC16A12 gene promoter: E4BP4 Meis-1 HOXA9B Chx10 Hlf Sox9 MEF-2A STAT5A ATF-2 p53 Other transcription factors Search SABiosciences Chromatin IP Primers for SLC16A12 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for SLC16A12
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 10q23.31 Ensembl cytogenetic band: 10q23.31 HGNC cytogenetic band: 10q23.32 SLC16A12 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 10 GeneLoc Exon Structure
GeneLoc location for GC10M084824: view genomic region
(about GC identifiers )
Start:
84,824,228 bp from pter
End:
84,929,593 bp from pter
Size:
105,366 bases
Orientation:
minus strand
1 alternative location : Chr 10- 91,190,056-91,316,398
RefSeq DNA sequence: NC_000010.10 NT_030059.13
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Proteinsfor SLC16A12 gene
(According to
1 UniProtKB ,
neXtProt ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological , and/or
ProSpec ,
Biochemical Assays by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene ,
Antibodies by
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals , and/or
Epitomics )
About This Section UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3 (See
protein sequence )Recommended Name: Monocarboxylate transporter 12 Size : 486 amino acids; 53075 Da
Subcellular location : Cell membrane; Multi-pass membrane protein (By similarity)
Sequence caution : Sequence=BAC85987.1; Type=Erroneous initiation;
Secondary accessions : Q5M9M9 Q5T7J2 Q6ZV76Explore the universe of human proteins at neXtProt for SLC16A12: NX_Q6ZSM3
REFSEQ proteins: NP_998771.3 ENSEMBL proteins: ENSP00000360855 ENSP00000343022 Human Recombinant Proteins 2 Gene Ontology (GO) cellular component terms (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005886 plasma membrane
IEA -- GO:0016021 integral to membrane
IEA --
About this table
SLC16A12 for ontologies About GeneDecksing Antibodies for SLC16A12: Assays for SLC16A12:
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Protein
Domains/ Familiesfor SLC16A12 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SLC16A12 for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q6ZSM3 ProtoNet protein and cluster: Q6ZSM3
UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3 Similarity : Belongs to the major facilitator superfamily. Monocarboxylate porter (TC 2.A.1.13) family
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Gene Functionfor SLC16A12 gene
(According to UniProtKB ,
IUBMB ,and/or
Genatlas , Animal models from MGI Dec 24 2010,
shRNA from
OriGene ,
Sigma-Aldrich ,
RNAi from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Clones from Millipore ,
Sigma-Aldrich ,
OriGene ,
GenScript ,
Sino Biological ,
Cell Lines from GenScript ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene .)
About This Section UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3 Function : Proton-linked monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of manymonocarboxylates (By similarity)
1 Gene Ontology (GO) molecular function term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0015293 symporter activity
IEA --
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SLC16A12 for ontologies About GeneDecksing
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Pathways & Interactionsfor SLC16A12 gene
(Pathways according to
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
PCR Arrays from
SABiosciences ,
Proteins Network according to
SABiosciences ,
Sigma-Aldrich ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene) .
About This Section SABiosciences Custom Pathway-Focused PCR Arrays for SLC16A12 Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC16A12 1 Gene Ontology (GO) biological process term (GO ID links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0055085 transmembrane transport
IEA --
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SLC16A12 for ontologies About GeneDecksing
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Drugs & Compoundsfor SLC16A12 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
About This Section Browse Tocris compounds for SLC16A12
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Transcriptsfor SLC16A12 gene (GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
Millipore ,
siRNAs from
Sigma-Aldrich ,
OriGene ,
Qiagen ,
Super-pooled esiRNAs from Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
microRNA from Sigma-Aldrich ,
Qiagen ,
SABiosciences ,
Tagged/untagged cDNA clones from
OriGene ,
Sigma-Aldrich ,
GenScript ,
Primers from
OriGene and/or
SABiosciences )About This Section REFSEQ mRNAs for SLC16A12 gene: NM_213606.3
Additional cDNA sequence: AK124901.1 AK127303.1 BC086873.1 CR614627.1
4 DOTS entries : DT.101964142 DT.121248685 DT.40192811 DT.70103483
24/27 AceView cDNA sequences (see all 27 ):
CR614627 AW118671 CA842760 BF195954 AI811653 CB068043 BQ269565 BX102238 CD000588 AI264674 CF553043 BQ417484 NM_213606 BM055162 BQ288035 AI733820 BM054923 BQ286201 CA848698 AK124901 BX439794 AK127303 BG433490 AI792642
highest scoring ESTs for SLC16A12 :AK127303 AI264674 AJ706758 AK124901 BF195954 BG433490 CF553043 CK826025 CK826026 CR936657 Unigene Cluster for SLC16A12:
Solute carrier family 16, member 12 (monocarboxylic acid transporter 12) Hs.530338 [show with all ESTs ] Unigene Representative Sequence: NM_213606 GeneLoc Exon Structure 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000371790 ENST00000475682 ENST00000341233 (uc001kgl.2 uc001kgm.2 )
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Expression for SLC16A12 gene
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Primers from
OriGene and/or
SABiosciences
)
About This Section SLC16A12 expression in normal and diseased human tissues 1 / 2 / 3
1 probe-set matching SLC16A12 gene
Affymetrix probe-set
Array
GeneAnnot data
GeneNote data
GeneTide data
# genes
Sensitivity
Specificity
Correlation
Length
Gb_Accession
Consensus
Uniqueness
Score
Rank
80010_at2 , 3
U95-D
1
0.94
1.00
1.00
1.00
AI264674
0.60
1.00
0.82
1
About this table
SLC16A12 for expression About GeneDecksing Data from
Genenote  
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGAATGATGT SOURCE GeneReport for Unigene cluster: Hs.530338 UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3 Tissue specificity : Most highly expressed in kidney, followed by retina, lung, and testis. Very weakly expressed inbrain and liver. Also detected in lens
SABiosciences Custom PCR Arrays for SLC16A12
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Orthologsfor SLC16A12 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
About This Section
Orthologs for SLC16A12 gene from 5/13 species (see all 13 )
About this table Species with no ortholog for SLC16A12 ENSEMBL Gene Tree for SLC16A12 (if available)
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Paralogsfor SLC16A12 gene (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section Paralogs for SLC16A12 gene SLC16A7 2 LOC440459 2 SLC16A1 2 SLC16A3 2 SLC16A5 2 SLC16A8 2 SLC16A6 2
SLC16A12 for paralogs About GeneDecksing
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Genomic Variantsfor SLC16A12 gene (SNPs according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Resequencing Primers from Qiagen )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Chr 10 pos Sequence Recs AA Chg Type More Recs Allele freq Pop Total sample More
About this table HapMap Linkage Disequilibrium images for SLC16A12 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SLC16A12: --
QIAGEN SeqTarget long-range PCR primers for resequencing SLC16A12
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Disorders & Mutationsfor SLC16A12 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
LSDB, HGMD, GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
SLC16A12 for disorders About GeneDecksing
OMIM: 611910 disorders : 612018 UniProtKB/Swiss-Prot: MOT12_HUMAN, Q6ZSM3
Defects in SLC16A12 are a cause of cataract juvenile with microcornea and glucosuria (CJMG) [MIM:612018]. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies Human Gene Mutation Database (HGMD) : SLC16A12 Human Genome Epidemiology (HuGE) Navigator: SLC16A12 (2 documents) Export disorders and mutations for SLC16A12 gene to outside databases
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Medical Newsfor SLC16A12 gene (Possibly Related Articles in
Doctor's Guide )
About This Section --
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Publicationsfor SLC16A12 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 UniProtKB/TrEMBL , and/or
7 Novoseek )
About This Section 8 PubMed articles for SLC16A12 gene integrated from 7 sources : (articles sorted by number of sources associating them with SLC16A12) Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. (PubMed id 18304496) 1 , 2 Kloeckener-Gruissem B.... Berger W. (2008) Alterations of the 5'untranslated leader region of SL C16A12 lead to age-related cataract. (PubMed id 20181839) 1 Zuercher J....Kloeckener-Gruissem B. (2010) A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451) 1 Grupe A....Goate A. (2006) The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054) 2 Deloukas P.... Rogers J. (2004) The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond. (PubMed id 12739169) 1 Halestrap A.P. and Meredith D. (2004) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for SLC16A12 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SLC16A12 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing SLC16A12 gene
(According to HUGE )
About This Section --
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Specialized Databases showing SLC16A12 gene (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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About This Section Patent Information for SLC16A12 gene: Search GeneIP for patents involving SLC16A12 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SLC16A12 gene (Antibodies, recombinant proteins, and assays by Millipore , Sigma-Aldrich , R&D Systems , Qiagen , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Epitomics , ProSpec , Uscn , Clones available from Millipore , Sigma-Aldrich , OriGene , GenScript , Sino Biological , PCR Arrays from SABiosciences , Drugs and/or compounds by Sigma-Aldrich , Tocris Bioscience , and/or
Enzo Life Sciences )About This Section
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