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

Gene ID: 11046, updated on 13-Mar-2020

Summary

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 Ensembl:ENSG00000285269 MIM:609182
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

Genomic context

See SLC35D2 in Genome Data Viewer
Location:
9q22.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (96313437..96383711, 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 HSD17B3 antisense RNA 1 Neighboring gene hydroxysteroid 17-beta dehydrogenase 3 Neighboring gene RNA, U6 small nuclear 1160, pseudogene Neighboring gene zinc finger protein 367 Neighboring gene NSA2 pseudogene 7 Neighboring gene hyaluronan binding protein 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117215, MGC142139

Gene Ontology Provided by GOA

Function Evidence Code Pubs
UDP-N-acetylgalactosamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-N-acetylglucosamine transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
UDP-glucuronic acid transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
antiporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
UDP-N-acetylgalactosamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
UDP-N-acetylglucosamine transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
UDP-glucuronic acid transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
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
 
Component Evidence Code Pubs
Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001286990.2NP_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)
    AL160269, BC100278, BX361048
    Consensus CDS
    CCDS69625.1
    UniProtKB/Swiss-Prot
    Q76EJ3
    Related
    ENSP00000364408.4, ENST00000375259.9
  2. NM_007001.3NP_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, ENST00000253270.13
    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
    Related
    ENST00000650065.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    96313437..96383711 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_005251678.5XP_005251735.1  UDP-N-acetylglucosamine/UDP-glucose/GDP-mannose transporter isoform X6

    Related
    ENSP00000494818.1, ENST00000643789.1
    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

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