UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:UGT
HGNC Symbol:SLC35A2
HGNC Description:solute carrier family 35 (UDP-galactose transporter), member A2
HGNC ID:11022
Superfamily:SLC
Chromosome:Chr.X(-): 48760459-48769235 GRCh37
Location:Xp11.23-p11.22
OMIM:314375
OMIM Phenotype:None
Accessions:D88146
Nucleotide RefSeq:NM_001032289
Protein RefSeq:NP_001027460
Entrez:7355
Ensembl:ENSG00000102100
Isoforms:9
Evidence:Substrate In Vitro Evidence: UDP-galactose in mouse microsomal vesicles Ishida et al 1996, J Biochem (Tokyo), Vol 120 p.1074-78 UDP-galactose in yeast Sun-Wada et al 1998, J Biochem (Tokyo), Vol 123 (5), p. 912-17 Tissue Distribution Evidence: Ubiquitous, expressed in the Golgi apparatus (immunofluorescence microscopy) Yoshioka et al 1997, J Biochem (Tokyo), Vol 122 (4), p.691-5 Ishida et al 2003, Pflugers Arch
Tissues:ubiquitous/Golgi
Type:protein-coding
Sets:0
PharmGKB ID:PA35890
HPRD ID:02441
Substrates:UDP-Gal, UDP-GlcNAc
Trivial Names:UGT, CDGX, UGAT, UGT1, UGT2, UGTL, CDG2M, UGALT, UDP-Gal-Tr
Transcripts:NM_001032289.1 [Chr.X(-): 48760890-48768933 GRCh37]
NM_001042498.2 [Chr.X(-): 48760889-48769235 GRCh37]
NM_005660.1 [Chr.X(-): 48760459-48768917 GRCh37]
XM_005272654.1 [Chr.X(-): 48760890-48768946 GRCh37]
XM_005272652.1 [Chr.X(-): 48760890-48768923 GRCh37]
XM_005272653.1 [Chr.X(-): 48760890-48768923 GRCh37]
XM_005278059.1 [Chr.X(-): 1143042-1151075 GRCh37]
XM_005278057.1 [Chr.X(-): 1143042-1151075 GRCh37]
XM_005278058.1 [Chr.X(-): 1143042-1151075 GRCh37]
ENST00000247138 [Chr.X(-): 48760459-48768917 GRCh37]
ENST00000376512 [Chr.X(-): 48763473-48768946 GRCh37]
ENST00000376515 [Chr.X(-): 48761605-48769235 GRCh37]
ENST00000376521 [Chr.X(-): 48760889-48769235 GRCh37]
ENST00000376529 [Chr.X(-): 48760538-48768913 GRCh37]
ENST00000413561 [Chr.X(-): 48761589-48768923 GRCh37]
ENST00000445167 [Chr.X(-): 48760890-48768933 GRCh37]
ENST00000446885 [Chr.X(-): 48762443-48769214 GRCh37]
ENST00000452555 [Chr.X(-): 48761717-48768923 GRCh37]
Annotation History:View Events (52)

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 SLC35A2.

Variant Data

View all PMT variants for SLC35A2 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: TOPO2 image is not available.