ENSG00000088002


Homo sapiens

Features
Gene ID: ENSG00000088002
  
Biological name :SULT2B1
  
Synonyms : O00204 / sulfotransferase family 2B member 1 / SULT2B1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 48552075
Gene end: 48599425
  
Corresponding Affymetrix probe sets: 205759_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000201586
Ensembl peptide - ENSP00000312880
NCBI entrez gene - 6820     See in Manteia.
OMIM - 604125
RefSeq - NM_004605
RefSeq - NM_177973
RefSeq Peptide - NP_004596
RefSeq Peptide - NP_814444
swissprot - O00204
Ensembl - ENSG00000088002
  
Related genetic diseases (OMIM): 617571 - Ichthyosis, congenital, autosomal recessive 14, 617571
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sult2st1ENSDARG00000033170Danio rerio
 sult2st2ENSDARG00000103785Danio rerio
 sult2st3ENSDARG00000028367Danio rerio
 O35400ENSMUSG00000003271Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q06520 / SULT2A1 / sulfotransferase family 2A member 1ENSG0000010539838
P0DMM9 / SULT1A3 / sulfotransferase family 1A member 3ENSG0000026105230
P0DMN0 / SULT1A4 / sulfotransferase family 1A member 4ENSG0000021364830
Q6IMI6 / SULT1C3 / sulfotransferase family 1C member 3ENSG0000019622829
P50225 / SULT1A1 / sulfotransferase family 1A member 1ENSG0000019650229
O43704 / SULT1B1 / sulfotransferase family 1B member 1ENSG0000017359729
P50226 / SULT1A2 / sulfotransferase family 1A member 2ENSG0000019716528
O75897 / SULT1C4 / sulfotransferase family 1C member 4ENSG0000019807528
P49888 / SULT1E1 / sulfotransferase family 1E member 1ENSG0000010919327
O00338 / SULT1C2 / sulfotransferase family 1C member 2ENSG0000019820326
AC108941.2ENSG0000028469513


Protein motifs (from Interpro)
Interpro ID Name
 IPR000863  Sulfotransferase domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000103 sulfate assimilation IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IMP
 biological_processGO:0008285 negative regulation of cell proliferation IMP
 biological_processGO:0045606 positive regulation of epidermal cell differentiation IMP
 biological_processGO:0050427 3"-phosphoadenosine 5"-phosphosulfate metabolic process TAS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003676 nucleic acid binding IMP
 molecular_functionGO:0004027 alcohol sulfotransferase activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008146 sulfotransferase activity IEA
 molecular_functionGO:0015485 cholesterol binding IDA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0050294 steroid sulfotransferase activity TAS
 molecular_functionGO:1990239 steroid hormone binding IMP


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
Show

 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
Show

 HP:0000232 Everted lower lip 
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 HP:0000389 Chronic otitis media 
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 HP:0000656 Ectropion "An abnormal turning outward of the lower eyelid." [HPO:sdoelken]
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 HP:0000958 Dry skin 
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001019 Erythroderma "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008070 Sparse hair 
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 HP:0011039 Abnormality of the helix "An abnormality of the `helix` (FMA:60992)." [HPO:probinson]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100679 Lack of skin elasticity 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0100806 Sepsis 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000088002 O00204 / SULT2B1 / sulfotransferase family 2B member 1  / complex






 

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