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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]
SULT2B1 (Sulfotransferase Family 2B Member 1) is a Protein Coding gene. Diseases associated with SULT2B1 include Ichthyosis, Congenital, Autosomal Recessive 14 and Ichthyosis, Congenital, Autosomal Recessive 1. Among its related pathways are Cytochrome P450 - arranged by substrate type and Sulfation Biotransformation Reaction. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and alcohol sulfotransferase activity. An important paralog of this gene is SULT2A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IMP | 12923182 |
GO:0004027 | alcohol sulfotransferase activity | IEA | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008146 | sulfotransferase activity | IEA | -- |
GO:0015485 | cholesterol binding | IDA | 12923182 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | TAS | 9799594 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0043231 | intracellular membrane-bounded organelle | IEA,IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Steroid hormone biosynthesis | ||
3 | Metabolism |
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4 | Androstenedione and testosterone biosynthesis and metabolism p.1 |
Estrone metabolism
.57
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5 | Sulfation Biotransformation Reaction |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000103 | sulfate assimilation | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0008202 | steroid metabolic process | IEA,IDA | 9799594 |
GO:0008203 | cholesterol metabolic process | IMP | 28575648 |
GO:0008285 | negative regulation of cell proliferation | IMP | 28575648 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Pregnenolone | Approved, Experimental | Pharma | Target | 0 | ||
Dehydroepiandrosterone | Approved, Investigational | Nutra | Enzyme, substrate | 113 | ||
cholesterol | Approved, Investigational | Pharma | Agonist | 0 | ||
Cytarabine | Approved, Experimental, Investigational | Pharma | 1335 | |||
Fludarabine | Approved | Pharma | DNA synthsis inhibitor | 1533,1533 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
(+)-Catechin 6-C-glucoside |
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105371-27-5 |
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(+)-Catechin 8-C-glucoside |
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105371-26-4 |
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(±)-2-Hydroxy-3-(2-hydroxyphenyl)propanoic acid |
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(1E)-1-(4-methoxyphenyl)pent-1-en-3-ol |
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(1E)-4-hydroxy-1-(4-methoxyphenyl)pent-1-en-3-one |
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This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SULT2B1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SULT2B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SULT2B1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sult2b1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Sult2b1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SULT2B1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SULT2B1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LOC769841 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100144919 30 |
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||
Str.5857 30 |
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||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.23902 30 |
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||
Zebrafish (Danio rerio) |
Actinopterygii | sult2st3 30 |
|
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si:dkey-236e20.1 31 |
|
ManyToMany | |||
Dr.25239 30 |
|
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
710148 | Benign: not provided | 48,592,741(+) | C/T | SYNONYMOUS_VARIANT | |
711605 | Benign: not provided | 48,552,267(+) | C/T | SYNONYMOUS_VARIANT | |
719579 | Benign: not provided | 48,596,922(+) | G/A | INTRON_VARIANT | |
720878 | Benign: not provided | 48,591,686(+) | G/A | SYNONYMOUS_VARIANT | |
726656 | Benign: not provided | 48,576,021(+) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3617n100 | CNV | gain | 25217958 |
esv3556507 | CNV | deletion | 23714750 |
esv3644590 | CNV | loss | 21293372 |
esv3644591 | CNV | gain | 21293372 |
nsv1057580 | CNV | gain | 25217958 |
nsv1058136 | CNV | loss | 25217958 |
nsv1058767 | CNV | gain | 25217958 |
nsv138413 | CNV | deletion | 16902084 |
nsv507899 | OTHER | sequence alteration | 20534489 |
nsv510882 | OTHER | complex | 20534489 |
nsv817853 | CNV | loss | 17921354 |
nsv9739 | CNV | gain+loss | 18304495 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ichthyosis, congenital, autosomal recessive 14 |
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ichthyosis, congenital, autosomal recessive 1 |
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ichthyosis, congenital, autosomal recessive 2 |
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autosomal recessive congenital ichthyosis |
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ichthyosis |
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