UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:MCT2
HGNC Symbol:SLC16A7
HGNC Description:solute carrier family 16 (monocarboxylate transporter), member 7
HGNC ID:10928
Superfamily:SLC
Chromosome:Chr.12(+): 59989821-60183636 GRCh37
Location:12q13
OMIM:603654
OMIM Phenotype:None
Accessions:NM_004731
Nucleotide RefSeq:NM_004731
Protein RefSeq:NP_004722
Entrez:9194
Ensembl:ENSG00000118596
Isoforms:6
Evidence:Substrate In Vitro Evidence: Pyruvate was shown to be a susbtrate of MCT2 as measured by uptake of the radiolabel in MCT2-expressing X. laevis oocytes (Lin RY, Vera JC, Chaganti RS, Golde DW. Human monocarboxylate transporter 2 (MCT2) is a high affinity pyruvate transporter. J Biol Chem 273(44):28959-65, 1998). This transport was inhibited by L-lactate, DL-(-hydroxybutyrate, (-hydroxybutyrate, and DL-(-hydroxybutyrate. . Tissue Distribution Evidence: Northern blot analysis of MCT2 mRNA in multiple human tissues showed transcripts of multiple length in a complex expression pattern. Three mRNAs of MCT2 from testis (ranging from 1.2- to 2.8-kilobases) yielded intense hybridization signals. Moderate to low levels of longer transcripts (3.6 and 11 kb) were observed in RNA samples derived from spleen, heart, kidney, pancreas, skeletal muscle, brain, and leukocyte (Lin RY, Vera JC, Chaganti RS, Golde DW. Human monocarboxylate transporter 2 (MCT2) is a high affinity pyruvate transporter. J Biol Chem 273(44):28959-65, 1998).
Tissues:Testis, spleen, heart, kidney, pancreas, skeletal muscle, brain, leukocytes
Type:protein-coding
Sets:V
PharmGKB ID:PA35819
HPRD ID:06791
Substrates:Pyruvate
Trivial Names:MCT2
Transcripts:NM_004731.4 [Chr.12(+): 60083118-60183636 GRCh37]
NM_001270623.1 [Chr.12(+): 59989821-60183636 GRCh37]
NM_001270622.1 [Chr.12(+): 59989821-60183636 GRCh37]
XM_005269231.1 [Chr.12(+): 60058655-60176395 GRCh37]
XM_005269232.1 [Chr.12(+): 60083151-60183023 GRCh37]
XM_005269233.1 [Chr.12(+): 60154893-60176395 GRCh37]
ENST00000261187 [Chr.12(+): 60083118-60176395 GRCh37]
ENST00000543448 [Chr.12(+): 60083134-60173477 GRCh37]
ENST00000546459 [Chr.12(+): 60083129-60162004 GRCh37]
ENST00000547379 [Chr.12(+): 59989925-60173770 GRCh37]
ENST00000547801 [Chr.12(+): 60083143-60162090 GRCh37]
ENST00000548444 [Chr.12(+): 60162840-60168816 GRCh37]
ENST00000548610 [Chr.12(+): 60058458-60173329 GRCh37]
ENST00000549033 [Chr.12(+): 60083134-60173477 GRCh37]
ENST00000549305 [Chr.12(+): 60083152-60154927 GRCh37]
ENST00000549465 [Chr.12(+): 59989943-60113975 GRCh37]
ENST00000549588 [Chr.12(+): 60083126-60157858 GRCh37]
ENST00000549928 [Chr.12(+): 60083151-60173470 GRCh37]
ENST00000550062 [Chr.12(+): 60083126-60129763 GRCh37]
ENST00000551877 [Chr.12(+): 60083143-60127866 GRCh37]
ENST00000552024 [Chr.12(+): 59990840-60173466 GRCh37]
ENST00000552405 [Chr.12(+): 60083134-60162006 GRCh37]
ENST00000552432 [Chr.12(+): 59989848-60173994 GRCh37]
Annotation History:View Events (49)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC16A7.

Variant Data

View all PMT variants for SLC16A7 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.