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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive congenital ichthyosis 1	Pathogenic	rs1114167424	RCV000490819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 2	Pathogenic	rs1114167426, rs1114167425, rs762765702	RCV000490818 RCV000490815 RCV000490814	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ichthyosis, congenital, autosomal recessive 14	Pathogenic; Likely pathogenic	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs140526640, rs1303127476	RCV000495824 RCV000495832 RCV000495825 RCV000495827 RCV000782419 RCV000782420	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs762765702	RCV005899711	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ICHTHYOSIFORM ERYTHRODERMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NONBULLOUS ICHTHYOSIFORM ERYTHRODERMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE DERMATOMYOSITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SULT2B1-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	15084249, 19308726	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	CTD_human_DG	27052460		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	29766219		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	29766219		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	28575648		★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	28575648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	28575648		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20887769		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	25437045		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	25437045		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23358850	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31599189		★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	28575648		★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	33807935	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis Congenita I	Ichthyosis Congenita	CLINVAR_DG	28575648		★☆☆☆☆ Found in Text Mining only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14	Ichthyosis with hypotrichosis	GENOMICS_ENGLAND_DG	28575648		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14	Ichthyosis with hypotrichosis	UNIPROT_DG	28575648		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14	Ichthyosis with hypotrichosis	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2	Ichthyosis with hypotrichosis	CLINVAR_DG	28575648		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	28575648, 36980989	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23593328, 30864145		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31599189		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	21716162		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24682418		★☆☆☆☆ Found in Text Mining only
Orthokeratotic hyperkeratosis	Orthokeratotic hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37337170	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	20406233	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24682418		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	21716162		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33079922	Associate	★☆☆☆☆ Found in Text Mining only