SLC35B2 Gene - Solute Carrier Family 35 Member B2
Key transporter in nucleotide-sugar metabolism and protein glycosylation
Gene Information Card
| Symbol | SLC35B2 |
|---|---|
| Full Name | Solute carrier family 35 member B2 |
| Gene Type | protein coding |
| Chromosomal Location | 6p12.1 |
| NCBI Gene ID | 347734 ncbi.nlm.nih.gov/gene/347734 |
| Ensembl ID | ENSG00000112419 |
| UniProt ID | Q8TB61 |
| OMIM ID | 610791 |
| HGNC ID | 20623 |
| Aliases | PAPST1, CGI-77, MDS031 |
Description
SLC35B2 encodes a member of the solute carrier family 35, specifically a nucleotide-sugar transporter localized to the Golgi apparatus. It transports 3'-phosphoadenosine 5'-phosphosulfate (PAPS) from the cytosol into the Golgi lumen, where it serves as a sulfate donor for sulfation of glycosaminoglycans, glycoproteins, and glycolipids. This gene is essential for proper post-translational modification and plays a role in various physiological processes including cartilage development and immune response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondyloepimetaphyseal dysplasia with joint laxity (SEMD-JL) | Biallelic loss-of-function mutations in SLC35B2 impair PAPS transport, leading to defective sulfation of proteoglycans in cartilage and connective tissue. | OMIM #610791; PMID: 29276005 |
| Colorectal cancer | Overexpression of SLC35B2 in tumor tissues correlates with increased sulfation of cell surface glycoproteins, potentially enhancing tumor invasion and metastasis. | COSMIC; PMID: 25691885 |
| Hepatocellular carcinoma | Upregulation of SLC35B2 promotes epithelial-mesenchymal transition via altered glycosylation, contributing to tumor progression. | PMID: 30593522 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Kidney | 9.8 | Medium |
| Lung | 8.5 | Medium |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line; high expression |
| A549 | 10.4 | Lung carcinoma cell line; moderate expression |
| MCF7 | 7.8 | Breast adenocarcinoma cell line; moderate expression |
| K562 | 4.3 | Chronic myelogenous leukemia cell line; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | Rare (0.01% in gnomAD) | Premature truncation; loss of function |
| c.455G>A (p.Arg152His) | Missense | 0.05% in gnomAD | Impaired PAPS transport activity |
| c.788A>G (p.Tyr263Cys) | Missense | Not reported | Potential dominant-negative effect; reduced sulfation |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations cause SEMD-JL, characterized by skeletal dysplasia and joint laxity.
Gain of Function (GOF)
Overexpression in cancers suggests a gain-of-function role in promoting malignancy, though no activating mutations have been reported.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by interfering with dimerization, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity | • nucleotide-sugar transmembrane transporter activity |
| • Golgi membrane | • integral component of membrane |
| • sulfation | • carbohydrate metabolic process |
Pathways
• Sulfur metabolism
• Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
• Glycosaminoglycan biosynthesis - heparan sulfate / heparin
• Metabolism of proteins
Protein Summary
SLC35B2 is a 411-amino acid multi-pass transmembrane protein localized to the Golgi apparatus. It functions as a PAPS transporter, critical for sulfation reactions. The protein contains 10 transmembrane helices and is predicted to form homodimers. It is ubiquitously expressed with higher levels in liver and kidney. Mutations affecting its function lead to skeletal disorders, while overexpression is linked to cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC35B2 Knockout HEK293 Cell Line | EDJ-KQ3408 | Human | 347734 | Details Get a Quote |
| SLC35B2 Knockout A-549 Cell Line | EDJ-KQ25117 | Human | 347734 | Details Get a Quote |
| SLC35B2 Knockout HCT 116 Cell Line | EDJ-KQ25118 | Human | 347734 | Details Get a Quote |
| SLC35B2 Knockout HeLa Cell Line | EDJ-KQ25119 | Human | 347734 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
