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

    Gene ID: 11046, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:20799
    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
    mouse all
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    Genomic context

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    See SLC35D2 in Genome Data Viewer
    Location:
    9q22.32
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (96313444..96383711, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108485153..108555432, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (99075726..99145993, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene SLC35D2-HSD17B3 readthrough Neighboring gene HSD17B3 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28651 Neighboring gene hydroxysteroid 17-beta dehydrogenase 3 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:99051559-99052109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99104760-99105284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:99105285-99105808 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20078 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110866 Neighboring gene Sharpr-MPRA regulatory region 10311 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_110873 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20079 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:99180933-99181466 Neighboring gene zinc finger protein 367 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20080 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:99181467-99182000 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr9:99182517-99183716 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:99185787-99186288 Neighboring gene NSA2 pseudogene 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20083 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20084 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20085 Neighboring gene hyaluronan binding protein 4 Neighboring gene cell division cycle 14B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Endoplasmic reticulum/golgi nucleotide sugar transporters contribute to the cellular release of UDP-sugar signaling molecules. Sesma JI, et al. J Biol Chem, 2009 May 1. PMID 19276090, Free PMC Article
    2. Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family. Ishida N, et al. Genomics, 2005 Jan. PMID 15607426
    3. Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection. Suda T, et al. J Biol Chem, 2004 Jun 18. PMID 15082721
    4. Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35). Ishida N, et al. Pflugers Arch, 2004 Feb. PMID 12759756
    5. Three proteins involved in Caenorhabditis elegans vulval invagination are similar to components of a glycosylation pathway. Herman T, et al. Proc Natl Acad Sci U S A, 1999 Feb 2. PMID 9927678, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HFRC1 was overexpressed in human bronchial epithelial cells and was shown to localize in the Golgi and to enhance the surface expression of N-acetylglucosamine-rich glycans.
      Title: Endoplasmic reticulum/golgi nucleotide sugar transporters contribute to the cellular release of UDP-sugar signaling molecules.
    2. HFRC1 takes part in the synthesis of heparan sulfate by regulating the level of UDP-GlcNAc, a donor substrate for the heparan sulfate synthases
      Title: Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Prognostic implications of genetic variants in advanced non-small cell lung cancer: a genome-wide association study.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough SLC35D2-HSD17B3

    Readthrough gene: SLC35D2-HSD17B3, Included gene: HSD17B3

    Homology

    Clone Names

    • MGC117215, MGC142139

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables UDP-N-acetylgalactosamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-N-acetylglucosamine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables UDP-glucuronic acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleotide-sugar transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables nucleotide-sugar transmembrane transporter activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables nucleotide-sugar transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    Process Evidence Code Pubs
    involved_in UDP-N-acetylgalactosamine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP-N-acetylglucosamine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in UDP-glucuronic acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_positive_effect heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in keratan sulfate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in nucleotide-sugar transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in Golgi membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    nucleotide sugar transporter SLC35D2
    Names
    SQV7-like protein
    UDP-N-acetylglucosamine transporter
    UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose 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

    NCBI Reference Sequences (RefSeq)

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    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_001286990.2 → NP_001273919.1  nucleotide sugar transporter SLC35D2 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)
      AL160269, BC100278, BX361048
      Consensus CDS
      CCDS69625.1
      UniProtKB/Swiss-Prot
      Q76EJ3
      Related
      ENSP00000364408.4, ENST00000375259.9

    2. NM_007001.3 → NP_008932.2  nucleotide sugar transporter SLC35D2 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
      O95454, Q498C1, Q75W21, Q76EJ3, Q7Z5X5
      Related
      ENSP00000253270.7, ENST00000253270.13
      Conserved Domains (1) summary
      cl26744
      Location:28 → 325
      TPT; Triose-phosphate Transporter family

    RNA

    1. NR_104627.2 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, AL160269, BX361048, DB547513
      Related
      ENST00000650065.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      96313444..96383711 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      108485153..108555432 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q76EJ3.1 GenPept UniProtKB/Swiss-Prot:Q76EJ3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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