SULT2B1 (sulfotransferase family 2B member 1)

Gene

• Entrez ID: 6820
• Gene name: Sulfotransferase family 2B member 1
• Gene symbol: SULT2B1
• Synonyms (NCBI Gene): ARCI14, HSST2
• Chromosome: 19
• Chromosome location: 19q13.33
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140526640	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs762765702	G>A	Pathogenic	Missense variant, coding sequence variant
rs1114167424	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1114167425	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1114167426	T>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1303127476	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IMP	12923182
GO:0004027	Function	Alcohol sulfotransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	16189514, 19060904, 25416956, 25910212, 31515488, 32296183, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9799594
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	28575648
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008146	Function	Sulfotransferase activity	IBA
GO:0008146	Function	Sulfotransferase activity	IEA
GO:0008202	Process	Steroid metabolic process	IDA	9799594, 12145317
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	28575648
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	28575648
GO:0015485	Function	Cholesterol binding	IDA	12923182
GO:0016740	Function	Transferase activity	IEA
GO:0036094	Function	Small molecule binding	EXP	12923182
GO:0045606	Process	Positive regulation of epidermal cell differentiation	IMP	28575648
GO:0050294	Function	Steroid sulfotransferase activity	IDA	9799594, 12145317, 12923182
GO:0050427	Process	3'-phosphoadenosine 5'-phosphosulfate metabolic process	IDA	12923182
GO:0051922	Function	Cholesterol sulfotransferase activity	IEA
GO:0051923	Process	Sulfation	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:1990239	Function	Steroid hormone binding	IMP	12923182

Other IDs

• MIM: 604125
• HGNC: 11459
• e!Ensembl: ENSG00000088002

Protein

• UniProt ID: O00204
• Protein name: Sulfotransferase 2B1 (EC 2.8.2.2) (Alcohol sulfotransferase) (Hydroxysteroid sulfotransferase 2) (Sulfotransferase family 2B member 1) (Sulfotransferase family cytosolic 2B member 1) (ST2B1)
• Protein function: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation. Responsible for the sulfation of cholesterol (PubMed:12145317, PubMed:19589875). Catalyzes sulfation of the 3beta-hydrox
• PDB: 1Q1Q, 1Q1Z, 1Q20, 1Q22
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00685	Sulfotransfer_1	60 → 305	Sulfotransferase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the stratum granulosum-stratum corneum junction in the skin (at protein level) (PubMed:28575648). Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung (PubMed:9799594). {E
• Sequence:

  MDGPAEPQIPGLWDTYEDDISEISQKLPGEYFRYKGVPFPVGLYSLESISLAENTQDVRD
  DDIFIITYPKSGTTWMIEIICLILKEGDPSWIRSVPIWERAPWCETIVGAFSLPDQYSPR
  LMSSHLPIQIFTKAFFSSKAKVIYMGRNPRDVVVSLYHYSKIAGQLKDPGTPDQFLRDFL
  KGEVQFGSWFDHIKGWLRMKGKDNFLFITYEELQQDLQGSVERICGFLGRPLGKEALGSV
  VAHSTFSAMKANTMSNYTLLPPSLLDHRRGAFLRKGVCGDWKNHFTVAQSEAFDRAYRKQ
  MRGMPTFPWDEDPEEDGSPDPEPSPEPEPKPSLEPNTSLEREPRPNSSPSPSPGQASETP
  HPRPS

• Sequence length: 365

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways

Reactome:

Cytosolic sulfonation of small molecules

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal recessive congenital ichthyosis 1	Pathogenic	rs1114167424	RCV000490819
Autosomal recessive congenital ichthyosis 2	Pathogenic	rs1114167426, rs1114167425, rs762765702	RCV000490818 RCV000490815 RCV000490814
Ichthyosis, congenital, autosomal recessive 14	Pathogenic; Likely pathogenic	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs140526640, rs1303127476	RCV000495824 RCV000495832 RCV000495825 RCV000495827 RCV000782419 RCV000782420
Uterine corpus endometrial carcinoma	Pathogenic	rs762765702	RCV005899711

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Benign	rs199730300	RCV005902999
SULT2B1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs3745726, rs1052131, rs2544794, rs61748775, rs527440291, rs2302947, rs371528066, rs117476816, rs149312079, rs16982149, rs199730300	RCV003984212 RCV003978733 RCV003978772 RCV003916595 RCV003961237 RCV003939157 RCV003912100 RCV003936176 RCV003920811 RCV003975734 RCV003923194

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	35441736
Breast Neoplasms	Associate	15084249, 19308726
Carcinoma Non Small Cell Lung	Associate	26736068
Cardiotoxicity	Associate	40362292
Cataract and congenital ichthyosis	Associate	33807935
Esophageal Squamous Cell Carcinoma	Associate	23358850
Ichthyosis	Associate	33807935
Lamellar ichthyosis type 3	Associate	28575648, 36980989
Neoplasms	Associate	26736068
Ovarian Neoplasms	Associate	37337170
Parkinson Disease	Associate	20406233
Uterine Cervical Neoplasms	Associate	33079922