SULT2B1: Sulfotransferase Family 2B Member 1
A key enzyme in steroid sulfation, hormone metabolism, and cancer biology
Gene Information Card
| Symbol | SULT2B1 |
|---|---|
| Full Name | Sulfotransferase Family 2B Member 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 6820 ncbi.nlm.nih.gov/gene/6820 |
| Ensembl ID | ENSG00000105675 |
| UniProt ID | O00204 |
| OMIM ID | 604009 |
| HGNC ID | 11459 |
| Aliases | ST2B1, SULT2B1a, SULT2B1b |
Description
SULT2B1 encodes a member of the sulfotransferase family that catalyzes the sulfate conjugation of steroids, particularly dehydroepiandrosterone (DHEA) and cholesterol. The gene produces two isoforms (SULT2B1a and SULT2B1b) via alternative splicing, with distinct substrate specificities and tissue distributions. SULT2B1 plays a critical role in steroid hormone metabolism, bile acid synthesis, and regulation of androgen/estrogen signaling. Dysregulation is implicated in hormone-dependent cancers (prostate, breast) and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate Cancer | Altered DHEA sulfation affects local androgen synthesis; SULT2B1b overexpression linked to castration-resistant prostate cancer | PMID: 21947068; COSMIC |
| Breast Cancer | Isoform-specific expression changes modulate estrogen availability; SULT2B1a downregulation observed in tumor tissues | PMID: 15601830; ClinVar |
| Ichthyosis (lamellar type) | Biallelic loss-of-function mutations in SULT2B1 cause autosomal recessive congenital ichthyosis | PMID: 20004778; OMIM #604009 |
| Metabolic Syndrome | Altered cholesterol sulfation impacts lipid metabolism and insulin sensitivity | PMID: 23444347 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal Gland | 12.5 | Medium |
| Prostate | 8.3 | Medium |
| Liver | 6.1 | Low |
| Breast | 4.7 | Low |
| Skin | 3.2 | Low |
| Placenta | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LNCaP (prostate cancer) | 15.2 | High expression of SULT2B1b |
| MCF-7 (breast cancer) | 8.9 | Moderate expression |
| HepG2 (liver cancer) | 5.4 | Low expression |
| HaCaT (keratinocyte) | 3.1 | 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 | Loss of function; associated with ichthyosis |
| c.253G>A (p.Gly85Arg) | Missense | <0.01% | Reduced enzyme activity; reported in ClinVar |
| c.424A>G (p.Ile142Val) | Missense | 0.02% | Likely benign; population variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg34*) lead to truncated protein and loss of sulfotransferase activity, causing autosomal recessive congenital ichthyosis.
Gain of Function (GOF)
Not well documented; overexpression of SULT2B1b in prostate cancer may represent a functional gain in local androgen synthesis.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Steroid hormone biosynthesis (KEGG: hsa00140)
• Sulfur metabolism (KEGG: hsa00920)
• Androgen and estrogen metabolism (Reactome: R-HSA-193048)
Protein Summary
SULT2B1 is a 365-amino acid cytosolic sulfotransferase that transfers a sulfo group from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to the hydroxyl group of steroid substrates. Isoform SULT2B1a preferentially sulfates pregnenolone, while SULT2B1b sulfates DHEA and cholesterol. The enzyme is critical for regulating local steroid hormone bioavailability, bile acid homeostasis, and skin barrier function. Crystal structures reveal a typical PAPS-binding domain and a substrate-binding pocket that accommodates hydrophobic steroids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SULT2B1 Knockout HEK293 Cell Line | EDJ-KQ12189 | Human | 6820 | Details Get a Quote |
| SULT2B1 Knockout A-549 Cell Line | EDJ-KQ39666 | Human | 6820 | Details Get a Quote |
| SULT2B1 Knockout HCT 116 Cell Line | EDJ-KQ40909 | Human | 6820 | Details Get a Quote |
| SULT2B1 Knockout HeLa Cell Line | EDJ-KQ54589 | Human | 6820 | Details Get a Quote |
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