Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6820
Gene name Gene Name - the full gene name approved by the HGNC.	Sulfotransferase family 2B member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SULT2B1
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI14, HSST2
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19q13.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(6)

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

Show/Hide all(28)

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

MIM	HGNC	e!Ensembl
604125	11459	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

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways		Cytosolic sulfonation of small molecules

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital ichthyosis	Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 1	rs1114167426, rs1114167425, rs1114167424, rs762765702	N/A
Ichthyosis with hypotrichosis	ichthyosis, congenital, autosomal recessive 14	rs1114167426, rs1114167425, rs1114167424, rs762765702, rs140526640, rs1303127476	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Lamellar ichthyosis	lamellar ichthyosis	N/A	N/A	GenCC

Show/Hide Text Mining Associations (12)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

SULT2B1 (sulfotransferase family 2B member 1)