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

Gene ID: 11046, updated on 11-Apr-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
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Genomic context

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Location:
9q22.32
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (96313444..96383711, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (108485153..108555432, complement)
105.20220307 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)

Genotypes

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 GDP-fucose transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
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
  
involved_in biological_process ND
No biological Data available
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_2023_10

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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