Human Gene SLC35A2 (ENST00000247138.11) from GENCODE V44
  Description: Homo sapiens solute carrier family 35 member A2 (SLC35A2), transcript variant 1, mRNA. (from RefSeq NM_005660)
RefSeq Summary (NM_005660): This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Oct 2014].
Gencode Transcript: ENST00000247138.11
Gencode Gene: ENSG00000102100.16
Transcript (Including UTRs)
   Position: hg38 chrX:48,903,183-48,911,646 Size: 8,464 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg38 chrX:48,903,438-48,911,636 Size: 8,199 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:48,903,183-48,911,646)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S35A2_HUMAN
DESCRIPTION: RecName: Full=UDP-galactose translocator; AltName: Full=Solute carrier family 35 member A2; AltName: Full=UDP-galactose transporter; Short=UDP-Gal-Tr; Short=UGT;
FUNCTION: Transports nucleotide sugars from the cytosol into Golgi vesicles where glycosyltransferases function.
SUBCELLULAR LOCATION: Golgi apparatus membrane; Multi-pass membrane protein.
SIMILARITY: Belongs to the nucleotide-sugar transporter family. SLC35A subfamily.
WEB RESOURCE: Name=GGDB; Note=GlycoGene database; URL="http://riodb.ibase.aist.go.jp/rcmg/ggdb/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC35A2
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iim* (1569), slc35a2-cdg* (500), bladder tuberculosis (16), urogenital tuberculosis (12), hepatitis d (11), descending colon cancer (7), crigler-najjar syndrome, type i (7), renal tuberculosis (6), bilirubin metabolic disorder (5), epileptic encephalopathy, early infantile, 36 (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.76 RPKM in Pituitary
Total median expression: 292.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
3' UTR -65.50255-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007271 - Nuc_sug_transpt
IPR021189 - UDP/CMP-sugar_transptr
IPR004689 - UDPgal_transpt

Pfam Domains:
PF04142 - Nucleotide-sugar transporter

ModBase Predicted Comparative 3D Structure on P78381
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005459 UDP-galactose transmembrane transporter activity
GO:0005515 protein binding
GO:0015165 pyrimidine nucleotide-sugar transmembrane transporter activity

Biological Process:
GO:0006012 galactose metabolic process
GO:0008643 carbohydrate transport
GO:0072334 UDP-galactose transmembrane transport
GO:0090481 pyrimidine nucleotide-sugar transmembrane transport

Cellular Component:
GO:0000139 Golgi membrane
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  D88146 - Homo sapiens UGT2 mRNA for UDP-galactose transporter 2, complete cds.
JD337932 - Sequence 318956 from Patent EP1572962.
JD416825 - Sequence 397849 from Patent EP1572962.
JD121507 - Sequence 102531 from Patent EP1572962.
JD182807 - Sequence 163831 from Patent EP1572962.
JD159472 - Sequence 140496 from Patent EP1572962.
JD477453 - Sequence 458477 from Patent EP1572962.
D84454 - Homo sapiens mRNA for UDP-galactose translocator, complete cds.
AK225508 - Homo sapiens mRNA for Splice isoform UGT1 of P78381 variant, clone: KAT02227.
BC035747 - Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2, mRNA (cDNA clone MGC:46152 IMAGE:5749525), complete cds.
AK090730 - Homo sapiens cDNA FLJ33411 fis, clone BRACE2019467, moderately similar to UDP-GALACTOSE TRANSLOCATOR.
AX746592 - Sequence 117 from Patent EP1308459.
AK290284 - Homo sapiens cDNA FLJ75119 complete cds, highly similar to Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2, transcript variant 2, mRNA.
AK293415 - Homo sapiens cDNA FLJ59470 complete cds, highly similar to UDP-galactose translocator.
AK293419 - Homo sapiens cDNA FLJ53300 complete cds, highly similar to UDP-galactose translocator.
AK292816 - Homo sapiens cDNA FLJ77206 complete cds, highly similar to Human mRNA for UDP-galactose translocator.
AK298484 - Homo sapiens cDNA FLJ59372 complete cds, highly similar to UDP-galactose translocator.
KJ892355 - Synthetic construct Homo sapiens clone ccsbBroadEn_01749 SLC35A2 gene, encodes complete protein.
CR450287 - Homo sapiens full open reading frame cDNA clone RZPDo834A121D for gene SLC35A2, solute carrier family 35 (UDP-galactose transporter), member A2; complete cds; without stopcodon.
AK299748 - Homo sapiens cDNA FLJ59970 complete cds, highly similar to UDP-galactose translocator.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P78381 (Reactome details) participates in the following event(s):

R-HSA-735702 SLC35A2 exchanges UDP-Gal, UDP-GalNAc for UMP
R-HSA-727802 Metabolism of sugars
R-HSA-425397 Transport of vitamins, nucleosides, and related molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8K2L9, A8K9V1, ENST00000247138.1, ENST00000247138.10, ENST00000247138.2, ENST00000247138.3, ENST00000247138.4, ENST00000247138.5, ENST00000247138.6, ENST00000247138.7, ENST00000247138.8, ENST00000247138.9, NM_005660, P78381, Q8IV21, Q92553, S35A2_HUMAN, uc004dlo.1, uc004dlo.2, uc004dlo.3, uc004dlo.4, uc004dlo.5, UGALT, UGT, UGTL
UCSC ID: ENST00000247138.11
RefSeq Accession: NM_005660
Protein: P78381 (aka S35A2_HUMAN)
CCDS: CCDS43937.1, CCDS75973.1, CCDS14311.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC35A2:
cdg (Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.