Free for academic non-profit institutions. Other users need a Commercial license

SULT2B1 Gene(Protein Coding)

Sulfotransferase Family 2B Member 1

GCID:
GC19P048552
GIFtS:
52
Genes Participants
UDN Logo

Aliases for SULT2B1 Gene

Aliases for SULT2B1 Gene

  • Sulfotransferase Family 2B Member 1 2 3 5
  • Sulfotransferase Family, Cytosolic, 2B, Member 1 2 3
  • Sulfotransferase Family Cytosolic 2B Member 1 3 4
  • Hydroxysteroid Sulfotransferase 2 3 4
  • Alcohol Sulfotransferase 3 4
  • Sulfotransferase 2B1 3 4
  • HSST2 3 4
  • ST2B1 3 4
  • Hydroxysteroid Sulfotransferase SULT2B1a 3
  • EC 2.8.2.2 4
  • EC 2.8.2 56
  • ARCI14 3

External Ids for SULT2B1 Gene

Previous GeneCards Identifiers for SULT2B1 Gene

  • GC19P049699
  • GC19P049423
  • GC19P053731
  • GC19P053747
  • GC19P049055
  • GC19P045434

Summaries for SULT2B1 Gene

Entrez Gene Summary for SULT2B1 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 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]

GeneCards Summary for SULT2B1 Gene

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 2. Among its related pathways are Cytochrome P450 - arranged by substrate type and Steroid hormone biosynthesis. Gene Ontology (GO) annotations related to this gene include sulfotransferase activity and alcohol sulfotransferase activity. An important paralog of this gene is SULT2A1.

UniProtKB/Swiss-Prot for SULT2B1 Gene

  • Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).

Gene Wiki entry for SULT2B1 Gene

Additional gene information for SULT2B1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SULT2B1 Gene

Genomics for SULT2B1 Gene

GeneHancer (GH) Regulatory Elements for SULT2B1 Gene

Promoters and enhancers for SULT2B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J048551 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 600.7 +2.4 2364 5.8 ELF3 CBFA2T2 ZNF121 CEBPG ZNF384 NCOA3 ZNF24 MYC SP7 TRIM24 SULT2B1 SNORD35A SNORD35B BICRA ALDH16A1 SNRNP70 PIH1D1 RPS11 NOP53 GRWD1
GH19J048572 Enhancer 1.4 Ensembl ENCODE dbSUPER 27.5 +21.7 21732 3.2 ZFX ZKSCAN8 ZNF121 CEBPG ZNF384 ZSCAN21 BACH1 MAFK SP7 ZNF174 SULT2B1 DKKL1 SPACA4
GH19J048588 Enhancer 1.5 FANTOM5 ENCODE dbSUPER 19 +37.2 37188 1.1 ZFX CTCF CC2D1A MLLT1 ZNF121 GTF2F1 ZNF384 ZSCAN21 MCM2 MAFK GRWD1 BICRA NOP53-AS1 SULT2B1 SNORD35A KDELR1 ENSG00000268746 ALDH16A1 SNRNP70 TEAD2
GH19J048565 Enhancer 1.3 Ensembl ENCODE dbSUPER 21.3 +13.2 13225 1 ZNF652 SP7 HNF1A SP5 SMARCA4 GMEB1 DPF2 IKZF1 PRDM10 CEBPA SULT2B1 SPACA4
GH19J048567 Enhancer 1.1 ENCODE dbSUPER 24.1 +16.3 16317 1.6 ZSCAN21 ELF1 SP7 SMARCA4 FOSL2 GLIS2 GMEB1 POLR2A IKZF1 ZBTB8A SULT2B1 SPACA4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SULT2B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SULT2B1 gene promoter:
  • AP-4
  • C/EBPalpha
  • C/EBPbeta
  • Egr-3
  • FOXO1
  • FOXO1a
  • FOXO4
  • Lmo2
  • Nkx6-1
  • RORalpha2

Genomic Locations for SULT2B1 Gene

Genomic Locations for SULT2B1 Gene
chr19:48,552,075-48,599,427
(GRCh38/hg38)
Size:
47,353 bases
Orientation:
Plus strand
chr19:49,055,332-49,102,684
(GRCh37/hg19)
Size:
47,353 bases
Orientation:
Plus strand

Genomic View for SULT2B1 Gene

Genes around SULT2B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SULT2B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SULT2B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SULT2B1 Gene

Proteins for SULT2B1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for SULT2B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00204-ST2B1_HUMAN
    Recommended name:
    Sulfotransferase family cytosolic 2B member 1
    Protein Accession:
    O00204
    Secondary Accessions:
    • O00205
    • O75814

    Protein attributes for SULT2B1 Gene

    Size:
    365 amino acids
    Molecular mass:
    41308 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SULT2B1 Gene

    Alternative splice isoforms for SULT2B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SULT2B1 Gene

Protein Expression for SULT2B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for SULT2B1 Gene

O00204:
  • PKSGTTW
  • GDWKNHFTVAQ

Post-translational modifications for SULT2B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SULT2B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SULT2B1 Gene

Gene Families for SULT2B1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for SULT2B1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SULT2B1 Gene

GenScript: Design optimal peptide antigens:
  • Hydroxysteroid sulfotransferase 2 (ST2B1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00204

UniProtKB/Swiss-Prot:

ST2B1_HUMAN :
  • Belongs to the sulfotransferase 1 family.
Family:
  • Belongs to the sulfotransferase 1 family.
genes like me logo Genes that share domains with SULT2B1: view

Function for SULT2B1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for SULT2B1 Gene

UniProtKB/Swiss-Prot Function:
Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates hydroxysteroids like DHEA. Isoform 1 preferentially sulfonates cholesterol, and isoform 2 avidly sulfonates pregnenolone but not cholesterol. Plays a role in epidermal cholesterol metabolism and in the regulation of epidermal proliferation and differentiation (PubMed:28575648).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3'-phosphoadenylyl sulfate + an alcohol = adenosine 3',5'-bisphosphate + an alkyl sulfate + H(+); Xref=Rhea:RHEA:22552, ChEBI:CHEBI:15378, ChEBI:CHEBI:30879, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:83414; EC=2.8.2.2;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10.9 uM for DHEA (at 37 degrees Celsius, in the presence of 1 mM MgCl2) {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633}; KM=3.8 uM for DHEA (at 37 degrees Celsius, in the presence of 10 mM MgCl2) {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633}; KM=11.8 uM for pregnenolone (at 37 degrees Celsius, in the presence of 1 mM MgCl2) {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633}; KM=0.6 uM for PAPS (at 37 degrees Celsius, in the presence of 1 mM MgCl2) {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633}; Vmax=1752 pmol/min/mg enzyme toward DHEA (at 37 degrees Celsius, in the presence of 10 mM MgCl2) {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633}; Temperature dependence: Optimum temperature is 37 degrees Celsius. Retains 70% and 20% of activity when incubated at 42 degrees Celsius for 45 and 120 minutes, respectively. Activity is lost after 200 minutes incubation at 42 degrees Celsius. {ECO:0000269 PubMed:16855051, ECO:0000269 PubMed:21855633};
GENATLAS Biochemistry:
hydroxysteroid sulfotransferase,highly expressed in placenta,prostate,trachea,with two isoforms SULT2B1A and SULT2B1B

Enzyme Numbers (IUBMB) for SULT2B1 Gene

Phenotypes From GWAS Catalog for SULT2B1 Gene

Gene Ontology (GO) - Molecular Function for SULT2B1 Gene

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
genes like me logo Genes that share ontologies with SULT2B1: view
genes like me logo Genes that share phenotypes with SULT2B1: view

Human Phenotype Ontology for SULT2B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SULT2B1 Gene

MGI Knock Outs for SULT2B1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SULT2B1

Clone Products

  • Applied Biological Materials (abm): Clones for SULT2B1 - Now 50% OFF >
  • * SULT2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SULT2B1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for SULT2B1 Gene

Localization for SULT2B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SULT2B1 Gene

Cytoplasm. Microsome. Nucleus. Cytoplasm, cytosol. Note=Phosphorylation of Ser-348 is required for translocation to the nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SULT2B1 gene
Compartment Confidence
cytosol 5
nucleus 4
endoplasmic reticulum 3
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Vesicles (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SULT2B1 Gene

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 IDA,IEA --
genes like me logo Genes that share ontologies with SULT2B1: view

Pathways & Interactions for SULT2B1 Gene

GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards
genes like me logo Genes that share pathways with SULT2B1: view

Pathways by source for SULT2B1 Gene

1 KEGG pathway for SULT2B1 Gene
1 GeneGo (Thomson Reuters) pathway for SULT2B1 Gene

Gene Ontology (GO) - Biological Process for SULT2B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000103 sulfate assimilation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IDA,IEA 9799594
GO:0008203 cholesterol metabolic process IMP 28575648
GO:0008285 negative regulation of cell proliferation IMP 28575648
genes like me logo Genes that share ontologies with SULT2B1: view

No data available for SIGNOR curated interactions for SULT2B1 Gene

Drugs & Compounds for SULT2B1 Gene

Products:

  1. Drug
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

(24) Drugs for SULT2B1 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pregnenolone Approved, Experimental Pharma Target 0
Dehydroepiandrosterone Approved, Investigational Nutra Target 111
cholesterol Approved, Investigational Pharma Agonist 0
Cytarabine Approved, Experimental, Investigational Pharma 1267
Fludarabine Approved Pharma DNA synthsis inhibitor 1389,1389

(717) Additional Compounds for SULT2B1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+)-Catechin 6-C-glucoside
  • 6-C-Glucopyranosylcatechin
  • 6-Glucopyranosyl-(+)-catechin
  • 6-Glucosyl-(+)-catechin
 105371-27-5
(+)-Catechin 8-C-glucoside
  • 8-C-Glucopyranosylcatechin
  • 8-Glucopyranosyl-(+)-catechin
  • 8-Glucosyl-(+)-catechin
 105371-26-4
(±)-2-Hydroxy-3-(2-hydroxyphenyl)propanoic acid
(1E)-1-(4-methoxyphenyl)pent-1-en-3-ol
(1E)-4-hydroxy-1-(4-methoxyphenyl)pent-1-en-3-one
genes like me logo Genes that share compounds with SULT2B1: view

Transcripts for SULT2B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SULT2B1 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for SULT2B1 Gene

Sulfotransferase family, cytosolic, 2B, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SULT2B1

Clone Products

  • Applied Biological Materials (abm): Clones for SULT2B1 - Now 50% OFF >
  • * SULT2B1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * SULT2B1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for SULT2B1 Gene

No ASD Table

Relevant External Links for SULT2B1 Gene

GeneLoc Exon Structure for
SULT2B1
ECgene alternative splicing isoforms for
SULT2B1

Expression for SULT2B1 Gene

Products:

  1. Primer
  2. Gene Expression Assay
GeneAnalytics - gene set analysis. Cells, Diseases, Pathways, Function and Compounds, relevant to your gene set. Powered by GeneCards

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SULT2B1 Gene

mRNA expression in normal human tissues for SULT2B1 Gene
mRNA expression by GTEx for SULT2B1 GenemRNA expression by BioGPS for SULT2B1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SULT2B1 Gene

This gene is overexpressed in Esophagus - Mucosa (x16.1), Skin - Sun Exposed (Lower leg) (x9.2), Skin - Not Sun Exposed (Suprapubic) (x8.8), Vagina (x6.5), and Cervix - Ectocervix (x4.4).

Protein differential expression in normal tissues from HIPED for SULT2B1 Gene

This gene is overexpressed in Cervix (54.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SULT2B1 Gene



NURSA nuclear receptor signaling pathways regulating expression of SULT2B1 Gene:

SULT2B1

SOURCE GeneReport for Unigene cluster for SULT2B1 Gene:

Hs.369331

mRNA Expression by UniProt/SwissProt for SULT2B1 Gene:

O00204-ST2B1_HUMAN
Tissue specificity: Expressed in the stratum granulosum-stratum corneum junction in the skin (at protein level). Expressed highly in placenta, prostate and trachea and lower expression in the small intestine and lung.

Evidence on tissue expression from TISSUES for SULT2B1 Gene

  • Skin(4.5)
genes like me logo Genes that share expression patterns with SULT2B1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SULT2B1 Gene

Orthologs for SULT2B1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SULT2B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia SULT2B1 34 35
  • 98.9 (n)
dog
(Canis familiaris)
 Mammalia SULT2B1 35 34
  • 88.11 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia SULT2B1 34 35
  • 83.53 (n)
rat
(Rattus norvegicus)
 Mammalia Sult2b1 34
  • 81.51 (n)
mouse
(Mus musculus)
 Mammalia Sult2b1 34 35 17
  • 79.19 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia SULT2B1 35
  • 68 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia SULT2B1 35
  • 67 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves LOC769841 34
  • 61.03 (n)
-- 35
  • 52 (a)
 OneToMany
-- 35
  • 52 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 35
  • 56 (a)
 OneToMany
-- 35
  • 48 (a)
 OneToMany
-- 35
  • 47 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100144919 34
  • 58.06 (n)
Str.5857 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23902 34
zebrafish
(Danio rerio)
 Actinopterygii sult2st3 34
  • 55.04 (n)
si:dkey-236e20.1 35
  • 44 (a)
 ManyToMany
Dr.25239 34
Species where no ortholog for SULT2B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SULT2B1 Gene

ENSEMBL:
Gene Tree for SULT2B1 (if available)
TreeFam:
Gene Tree for SULT2B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SULT2B1: view image

Paralogs for SULT2B1 Gene

Paralogs for SULT2B1 Gene

(12) SIMAP similar genes for SULT2B1 Gene using alignment to 1 proteins:

  • ST2B1_HUMAN
genes like me logo Genes that share paralogs with SULT2B1: view

Variants for SULT2B1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay
VarElect - NGS phenotyper. Rapid prioritization of variants from NGS data powered by 100+ GeneCards sources

Sequence variations from dbSNP and Humsavar for SULT2B1 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1114167424 pathogenic, Autosomal recessive congenital ichthyosis 1, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14, Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571] 48,591,631(+) C/G/T coding_sequence_variant, missense_variant
rs1114167425 pathogenic, Autosomal recessive congenital ichthyosis 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 48,587,378(+) A/AA coding_sequence_variant, frameshift
rs1114167426 pathogenic, Autosomal recessive congenital ichthyosis 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 48,552,325(+) T/A genic_upstream_transcript_variant, splice_donor_variant
rs762765702 pathogenic, Autosomal recessive congenital ichthyosis 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14, Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571] 48,596,914(+) G/A coding_sequence_variant, missense_variant
rs1000126707 -- 48,581,736(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SULT2B1 Gene

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

Variation tolerance for SULT2B1 Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.04; 50.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SULT2B1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SULT2B1
Human Gene Mutation Database (HGMD)
SULT2B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SULT2B1 Gene

Disorders for SULT2B1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for SULT2B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ST2B1_HUMAN
  • Ichthyosis, congenital, autosomal recessive 14 (ARCI14) [MIM:617571]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:28575648}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SULT2B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SULT2B1: view

No data available for Genatlas for SULT2B1 Gene

Publications for SULT2B1 Gene

  1. Human hydroxysteroid sulfotransferase SULT2B1: two enzymes encoded by a single chromosome 19 gene. (PMID: 9799594) Her C … Weinshilboum RM (Genomics 1998) 2 3 4 23 58
  2. Crystal structure of human cholesterol sulfotransferase (SULT2B1b) in the presence of pregnenolone and 3'-phosphoadenosine 5'-phosphate. Rationale for specificity differences between prototypical SULT2A1 and the SULT2BG1 isoforms. (PMID: 12923182) Lee KA … Pedersen LC (The Journal of biological chemistry 2003) 3 4 23 58
  3. Mutational analysis of human hydroxysteroid sulfotransferase SULT2B1 isoforms reveals that exon 1B of the SULT2B1 gene produces cholesterol sulfotransferase, whereas exon 1A yields pregnenolone sulfotransferase. (PMID: 12145317) Fuda H … Strott CA (The Journal of biological chemistry 2002) 3 4 23 58
  4. Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans. (PMID: 28575648) Heinz L … Fischer J (American journal of human genetics 2017) 3 4 58
  5. Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer. (PMID: 20214802) Li J … Hall P (Breast cancer research : BCR 2010) 3 45 58

ExternalLinks

View latest publications for SULT2B1 gene in Mastermind

Products for SULT2B1 Gene

Sources for SULT2B1 Gene

Content
Loading form....