Gene Gene information from NCBI Gene database.
Entrez ID 11046
Gene name Solute carrier family 35 member D2
Gene symbol SLC35D2
Synonyms (NCBI Gene)
HFRC1SQV7LUGTrel8hfrc
Chromosome 9
Chromosome location 9q22.32
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 in
miRNA miRNA information provided by mirtarbase database.
158
miRTarBase ID miRNA Experiments Reference
MIRT016425 hsa-miR-193b-3p Microarray 20304954
MIRT027692 hsa-miR-98-5p Microarray 19088304
MIRT029531 hsa-miR-26b-5p Microarray 19088304
MIRT696349 hsa-miR-34b-3p HITS-CLIP 23313552
MIRT696348 hsa-miR-3123 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 15082721
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005338 Function Nucleotide-sugar transmembrane transporter activity EXP 15082721, 15607426
GO:0005338 Function Nucleotide-sugar transmembrane transporter activity NAS 9927678
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609182 20799 ENSG00000130958
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q76EJ3
Protein name Nucleotide sugar transporter SLC35D2 (Homolog of Fringe connection protein 1) (HFRC1) (SQV7-like protein) (SQV7L) (Solute carrier family 35 member D2) (UDP-galactose transporter-related protein 8) (UGTrel8)
Protein function Nucleotide sugar antiporter transporting UDP-N-acetylglucosamine (UDP-GlcNAc) and UDP-glucose (UDP-Glc) from the cytosol into the lumen of the Golgi in exchange of UMP. By supplying UDP-N-acetylglucosamine, a donor substrate to heparan sulfate s
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03151 TPT 24 313 Triose-phosphate Transporter family Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, kidney, small intestine, placenta, lung and peripheral blood leukocyte. Weakly expressed in skeletal muscle and spleen. Not expressed in brain, colon and thymus. {ECO:0000269|PubMed:15607426}.
Sequence
Sequence length 337
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Keratan sulfate biosynthesis
HS-GAG biosynthesis
Transport of nucleotide sugars
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MIGRAINE WITH AURA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations