UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:PAT2
HGNC Symbol:SLC36A2
HGNC Description:solute carrier family 36 (proton/amino acid symporter), member 2
HGNC ID:18762
Superfamily:SLC
Chromosome:Chr.5(-): 150694539-150727151 GRCh37
Location:5q33.1
OMIM:608331
OMIM Phenotype:None
Accessions:AY162214
Nucleotide RefSeq:NM_181776
Protein RefSeq:NP_861441
Entrez:153201
Ensembl:ENSG00000186335
Isoforms:3
Evidence:Substrate In Vitro Evidence: 1. Expressed in xenopus laevis oocytes. Transports (bidirectionally) small amino acids (e.g. glycine, alanine, and proline). At a physiological pH, PAT2 operates with a maximal transport rate. Glycine transport inhibited by sarcosine. Rubio-Aliaga, I et al. JBC 2004 Jan 23, 279(4):2754-60 PMID 14600155. Tissue Distribution Evidence: 1. Immunodetection studies revealed that the PAT2 protein is expressed in spinal cord and brain. Rubio-Aliaga, I et al. JBC 2004 Jan 23, 279(4):2754-60 PMID 14600155. 2. Mouse PAT2 is not found in lysosomes (GFP construct expressed in HeLa cells) but is present in the ER and recycling endosomes in neurons. Northern blots showed highest expression of mPAT2 in heart and lung. Boll, M. et al. JBC 2002 June 21, 277(25):22966-22973.
Tissues:spinal cord, brain, heart, lung
Type:protein-coding
Sets:0
PharmGKB ID:PA134899820
HPRD ID:12215
Substrates:small amino acids (glycine, alanine, proline), protons
Trivial Names:PAT2, TRAMD1
Transcripts:NM_181776.2 [Chr.5(-): 150694539-150727151 GRCh37]
XM_005268378.1 [Chr.5(-): 150695219-150727095 GRCh37]
XM_005268377.1 [Chr.5(-): 150698666-150727151 GRCh37]
ENST00000335244 [Chr.5(-): 150694539-150727151 GRCh37]
ENST00000450886 [Chr.5(-): 150694543-150712004 GRCh37]
ENST00000518280 [Chr.5(-): 150695754-150727089 GRCh37]
ENST00000518617 [Chr.5(-): 150695754-150727089 GRCh37]
ENST00000521967 [Chr.5(-): 150701446-150727151 GRCh37]
ENST00000522829 [Chr.5(-): 150718174-150727117 GRCh37]
ENST00000523044 [Chr.5(-): 150704712-150712885 GRCh37]

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 SLC36A2.

Variant Data

View all PMT variants for SLC36A2 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.