SULT2B1 Chromosome 19
Sulfotransferase family 2B member 1
Upload your DNA to see your personal genotypes for variants in SULT2B1.
What This Gene Does
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene sulfates dehydroepiandrosterone but not 4-nitrophenol, a typical substrate for the phenol and estrogen sulfotransferase subfamilies. Two alternatively spliced variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Sulfotransferases, cytosolic
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000088002
Associated Conditions (8)
SULT2B1-related disorder
Inborn genetic diseases
Ichthyosis
congenital
autosomal recessive 14
Autosomal recessive congenital ichthyosis 1
Autosomal recessive congenital ichthyosis 2
Uterine corpus endometrial carcinoma
Key Variants
RS61748775
Conflicting classifications of pathogenicity
SULT2B1-related disorder, Inborn genetic diseases, SULT2B1-related disorder
Health Risk
RS1303127476
Likely pathogenic
Ichthyosis, congenital, autosomal recessive 14
Health Risk
RS140526640
Likely pathogenic
Ichthyosis, congenital, autosomal recessive 14
Health Risk
RS1114167424
Pathogenic
Autosomal recessive congenital ichthyosis 1, Ichthyosis, congenital
Health Risk
RS1114167425
Pathogenic
Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital
Health Risk
RS1114167426
Pathogenic
Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital
Health Risk
RS762765702
Pathogenic
Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61748775 | Health Risk | Conflicting classifications of pathogenicity | SULT2B1-related disorder, Inborn genetic diseases, SULT2B1-related disorder |
| RS1303127476 | Health Risk | Likely pathogenic | Ichthyosis, congenital, autosomal recessive 14 |
| RS140526640 | Health Risk | Likely pathogenic | Ichthyosis, congenital, autosomal recessive 14 |
| RS1114167424 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 1, Ichthyosis, congenital |
| RS1114167425 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital |
| RS1114167426 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital |
| RS762765702 | Health Risk | Pathogenic | Autosomal recessive congenital ichthyosis 2, Ichthyosis, congenital |