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    SLC35D2 solute carrier family 35 member D2 [ Homo sapiens (human) ]

    Gene ID: 11046, updated on 4-Feb-2018
    Official Symbol
    SLC35D2provided by HGNC
    Official Full Name
    solute carrier family 35 member D2provided by HGNC
    Primary source
    HGNC:HGNC:20799
    See related
    Ensembl:ENSG00000130958 MIM:609182; Vega:OTTHUMG00000020293
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    hfrc; HFRC1; SQV7L; UGTrel8
    Summary
    Nucleotide sugars, which are synthesized in the cytosol or the nucleus, are high-energy donor substrates for glycosyltransferases located in the lumen of the endoplasmic reticulum and Golgi apparatus. Translocation of nucleotide sugars from the cytosol into the lumen compartment is mediated by specific nucleotide sugar transporters, such as SLC35D2 (Suda et al., 2004 [PubMed 15082721]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in small intestine (RPKM 17.7), duodenum (RPKM 17.4) and 25 other tissues See more
    Orthologs
    Location:
    9q22.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (96313437..96383710, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (99075719..99145992, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987033 Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 3 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene NSA2 ribosome biogenesis homolog (S. cerevisiae) pseudogene Neighboring gene zinc finger protein 367 Neighboring gene hyaluronan binding protein 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    NHGRI GWA Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    NHGRI GWA Catalog
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
      HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
    • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
      Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
    • Keratan sulfate biosynthesis, organism-specific biosystem (from REACTOME)
      Keratan sulfate biosynthesis, organism-specific biosystemKeratan sulfate (KSI) is the best characterised keratan sulfate. It is 10 times more abundant in cornea than cartilage. KSI is attached to an asparagine (Asn) residue on the core protein via an N-lin...
    • Keratan sulfate/keratin metabolism, organism-specific biosystem (from REACTOME)
      Keratan sulfate/keratin metabolism, organism-specific biosystemKeratan sulfate (KS) (a glycosaminoglycan, GAG) is a linear polysaccharide that consists of the repeating disaccharide unit GlcNAc-Gal (N-acetylglucosamine-galactose). KS can perform a structural fun...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • SLC-mediated transmembrane transport, organism-specific biosystem (from REACTOME)
      SLC-mediated transmembrane transport, organism-specific biosystemProteins with transporting functions can be roughly classified into 3 categories: ATP-powered pumps, ion channels, and transporters. Pumps utilize the energy released by ATP hydrolysis to power the m...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Transport of nucleotide sugars, organism-specific biosystem (from REACTOME)
      Transport of nucleotide sugars, organism-specific biosystemNucleotide sugars are used as sugar donors by glycosyltransferases to create the sugar chains for glycoconjugates such as glycoproteins, polysaccharides and glycolipids. Glycosyltransferases reside m...
    • Transport of vitamins, nucleosides, and related molecules, organism-specific biosystem (from REACTOME)
      Transport of vitamins, nucleosides, and related molecules, organism-specific biosystemThis pathway groups the processes mediated by SLC transporters, by which vitamins and cofactors, as well as nucleosides, nucleotides, nucleobases, and related molecules cross lipid bilayer membranes.
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC117215, MGC142139

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    nucleotide-sugar transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    nucleotide-sugar transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    pyrimidine nucleotide-sugar transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    biological_process ND
    No biological Data available
    more info
     
    carbohydrate transport IEA
    Inferred from Electronic Annotation
    more info
     
    glycosaminoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
     
    keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    pyrimidine nucleotide-sugar transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    cellular_component ND
    No biological Data available
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter
    Names
    SQV7-like protein
    UDP-N-acetylglucosamine transporter
    UDP-galactose transporter-related protein 8
    fringe connection
    homolog of Fringe connection protein 1
    solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001286990.1NP_001273919.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform b

      See identical proteins and their annotated locations for NP_001273919.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks three alternate exons that result in the loss of an in-frame segment in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
      Source sequence(s)
      BC009413, BC100278, BX361048
      Consensus CDS
      CCDS69625.1
      UniProtKB/Swiss-Prot
      Q76EJ3
      Related
      ENSP00000364408.4, ENST00000375259.8
    2. NM_007001.2NP_008932.2  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform a

      See identical proteins and their annotated locations for NP_008932.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AB106537, AJ005866, AL160269
      Consensus CDS
      CCDS6717.1
      UniProtKB/Swiss-Prot
      Q76EJ3
      UniProtKB/TrEMBL
      A0A024R9N5
      Related
      ENSP00000253270.7, OTTHUMP00000021719, ENST00000253270.11, OTTHUMT00000053261
      Conserved Domains (1) summary
      cl26744
      Location:28325
      TPT; Triose-phosphate Transporter family

    RNA

    1. NR_104627.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK024841, AK307890, BX361048, DB547513

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      96313437..96383710 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518164.1XP_011516466.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X4

    2. XM_006716939.2XP_006717002.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X7

    3. XM_005251675.2XP_005251732.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X3

      Conserved Domains (1) summary
      TIGR00817
      Location:28278
      tpt; Tpt phosphate/phosphoenolpyruvate translocator
    4. XM_005251676.1XP_005251733.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X5

      Conserved Domains (1) summary
      pfam03151
      Location:28219
      TPT; Triose-phosphate Transporter family
    5. XM_005251673.1XP_005251730.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X1

      See identical proteins and their annotated locations for XP_005251730.1

      Conserved Domains (1) summary
      pfam03151
      Location:28219
      TPT; Triose-phosphate Transporter family
    6. XM_005251674.1XP_005251731.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X2

      Conserved Domains (1) summary
      COG5070
      Location:25276
      VRG4; Nucleotide-sugar transporter [Carbohydrate transport and metabolism / Posttranslational modification, protein turnover, chaperones / Intracellular trafficking and secretion]
    7. XM_005251678.4XP_005251735.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X6

      Conserved Domains (1) summary
      PTZ00343
      Location:18195
      PTZ00343; triose or hexose phosphate/phosphate translocator; Provisional

    RNA

    1. XR_001746170.1 RNA Sequence

    2. XR_929705.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      99222187..99292473 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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