SLC35D2
Solute Carrier Family 35 Member D2
Gene Information Card
| Symbol | SLC35D2 |
|---|---|
| Full Name | Solute Carrier Family 35 Member D2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q22.32 |
| NCBI Gene ID | 11046 ncbi.nlm.nih.gov/gene/11046 |
| Ensembl ID | ENSG00000106992 |
| UniProt ID | Q76EJ3 |
| OMIM ID | 610804 |
| HGNC ID | 20799 |
| Aliases | UGTrel1, SLC35D2, UGTREL1 |
Description
SLC35D2 (Solute Carrier Family 35 Member D2) encodes a nucleotide-sugar transporter that localizes to the Golgi apparatus and endoplasmic reticulum. It mediates the transport of UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) into the lumen, essential for glycosylation and proteoglycan synthesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schneckenbecken dysplasia | Impaired UDP-glucuronic acid transport affecting proteoglycan synthesis in cartilage | OMIM #269250; homozygous loss-of-function mutations in SLC35D2 |
| Colorectal cancer | Altered glycosylation and tumor progression via SLC35D2 overexpression | COSMIC; increased expression in tumor samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 5.1 | Low |
| Lung | 4.7 | Low |
| Heart | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 6.1 | Lung adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon; likely loss of function |
| c.679C>T (p.Arg227Trp) | Missense | Rare | Impaired UDP-GlcA transport activity |
Mutation functional classification
Loss of Function (LOF)
Homozygous missense mutations (e.g., p.Arg227Trp) reduce or abolish UDP-glucuronic acid transport, leading to Schneckenbecken dysplasia.
Gain of Function (GOF)
No evidence of gain-of-function mutations in SLC35D2.
Dominant Negative (DN)
Not reported for SLC35D2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate (Reactome R-HSA-1793185)
• Transport of nucleotide sugars (Reactome R-HSA-727802)
Protein Summary
SLC35D2 is a 339-amino acid multi-pass transmembrane protein localized to the Golgi and ER membranes. It functions as a nucleotide-sugar antiporter, importing UDP-glucuronic acid and UDP-N-acetylgalactosamine into the lumen in exchange for UMP. This activity is critical for the biosynthesis of glycosaminoglycans and glycoproteins. Defects cause skeletal dysplasia, and altered expression is linked to cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35D2 Knockout HEK293 Cell Line | EDJ-KQ7258 | Human | 11046 | Details Get a Quote |
| SLC35D2 Knockout A-549 Cell Line | EDJ-KQ32265 | Human | 11046 | Details Get a Quote |
| SLC35D2 Knockout HCT 116 Cell Line | EDJ-KQ32266 | Human | 11046 | Details Get a Quote |
| SLC35D2 Knockout HeLa Cell Line | EDJ-KQ32267 | Human | 11046 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
