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Aliases for HS2ST1 Gene

Aliases for HS2ST1 Gene

  • Heparan Sulfate 2-O-Sulfotransferase 1 2 3 5
  • 2-O-Sulfotransferase 3 4
  • 2OST 3 4
  • EC 2.8.2.- 4
  • DJ604K5.2 3
  • KIAA0448 4
  • EC 2.8.2 58
  • HS2ST 4

External Ids for HS2ST1 Gene

Previous GeneCards Identifiers for HS2ST1 Gene

  • GC01P087882
  • GC01P086549
  • GC01P086672
  • GC01P086802
  • GC01P087092
  • GC01P087380
  • GC01P085491

Summaries for HS2ST1 Gene

Entrez Gene Summary for HS2ST1 Gene

  • Heparan sulfate biosynthetic enzymes are key components in generating a myriad of distinct heparan sulfate fine structures that carry out multiple biologic activities. This gene encodes a member of the heparan sulfate biosynthetic enzyme family that transfers sulfate to the 2 position of the iduronic acid residue of heparan sulfate. The disruption of this gene resulted in no kidney formation in knockout embryonic mice, indicating that the absence of this enzyme may interfere with the signaling required for kidney formation. Two alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Aug 2008]

GeneCards Summary for HS2ST1 Gene

HS2ST1 (Heparan Sulfate 2-O-Sulfotransferase 1) is a Protein Coding gene. Diseases associated with HS2ST1 include Spherocytosis, Type 2 and Renal Hypodysplasia/Aplasia 1. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. GO annotations related to this gene include sulfotransferase activity and galactosylceramide sulfotransferase activity. An important paralog of this gene is ENSG00000267561.

UniProtKB/Swiss-Prot for HS2ST1 Gene

  • Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity).

Gene Wiki entry for HS2ST1 Gene

Additional gene information for HS2ST1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HS2ST1 Gene

Genomics for HS2ST1 Gene

Regulatory Elements for HS2ST1 Gene

Enhancers for HS2ST1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H086912 1.1 ENCODE 8 0.0 -4 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000267734 LOC100420166 LOC105378828 HS2ST1 SELENOF
GH01H086933 0.7 ENCODE 7.8 +19.5 19486 1 FOXA2 TAL1 ZNF384 GATA2 FOXK2 PRDM10 RFX1 ZNF362 SOX6 DPF2 LOC105378828 HS2ST1 ENSG00000267734
GH01H087794 1.1 Ensembl ENCODE 4.1 +881.9 881886 3 ELF3 TBP FOXA2 RAD21 RARA FOS CREM KAT8 NFIL3 MIER3 HS2ST1 GC01P087798 GC01M087659
GH01H086992 0.6 ENCODE 7.1 +78.3 78345 0 E2F5 ZNF592 TFDP1 JUND GATA3 ZNF341 CREB1 CREM TRIM28 LOC105378828 HS2ST1 ENSG00000267561 ENSG00000267734
GH01H086739 0.7 ENCODE dbSUPER 4.6 -174.4 -174388 1 BATF PRDM4 HS2ST1 GC01P086761 GC01P086705
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HS2ST1 on UCSC Golden Path with GeneCards custom track

Promoters for HS2ST1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000009364 52 3801 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for HS2ST1 Gene

Chromosome:
1
Start:
86,914,648 bp from pter
End:
87,109,998 bp from pter
Size:
195,351 bases
Orientation:
Plus strand

Genomic View for HS2ST1 Gene

Genes around HS2ST1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HS2ST1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HS2ST1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HS2ST1 Gene

Proteins for HS2ST1 Gene

  • Protein details for HS2ST1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7LGA3-HS2ST_HUMAN
    Recommended name:
    Heparan sulfate 2-O-sulfotransferase 1
    Protein Accession:
    Q7LGA3
    Secondary Accessions:
    • D3DT22
    • O75036
    • Q32NB5
    • Q8TAC5
    • Q9H441
    • Q9NUJ9

    Protein attributes for HS2ST1 Gene

    Size:
    356 amino acids
    Molecular mass:
    41881 Da
    Quaternary structure:
    • Homotrimer. Interacts with the C5-epimerase GLCE (By similarity).
    SequenceCaution:
    • Sequence=BAA32293.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for HS2ST1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HS2ST1 Gene

Selected DME Specific Peptides for HS2ST1 Gene

Q7LGA3:
  • KLERAIARHEVREIEQRH
  • RAHAVREKDG
  • IWKMENEFYEFALEQFQF
  • YHVLHINTTKNNPVMSLQDQVRFVKN
  • EMKPGFYHGH
  • PPKLQLLAV
  • NEYFLVGVTE
  • GKKSHLRKTTEKK
  • NIAYDLC
  • RLVSYYYFLRFGD
  • LFLENQIQKLEESR
  • YNRVPKT
  • WLQIPFFCGH

Post-translational modifications for HS2ST1 Gene

Other Protein References for HS2ST1 Gene

Antibody Products

  • R&D Systems Antibodies for HS2ST1 (Heparan Sulfate 2-O-Sulfotransferase 1/HS2ST1)
  • Santa Cruz Biotechnology (SCBT) Antibodies for HS2ST1

Domains & Families for HS2ST1 Gene

Gene Families for HS2ST1 Gene

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

Protein Domains for HS2ST1 Gene

Suggested Antigen Peptide Sequences for HS2ST1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7LGA3

UniProtKB/Swiss-Prot:

HS2ST_HUMAN :
  • Belongs to the sulfotransferase 3 family.
Family:
  • Belongs to the sulfotransferase 3 family.
genes like me logo Genes that share domains with HS2ST1: view

Function for HS2ST1 Gene

Molecular function for HS2ST1 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the transfer of sulfate to the C2-position of selected hexuronic acid residues within the maturing heparan sulfate (HS). 2-O-sulfation within HS, particularly of iduronate residues, is essential for HS to participate in a variety of high-affinity ligand-binding interactions and signaling processes. Mediates 2-O-sulfation of both L-iduronyl and D-glucuronyl residues (By similarity).

Enzyme Numbers (IUBMB) for HS2ST1 Gene

Gene Ontology (GO) - Molecular Function for HS2ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004394 heparan sulfate 2-O-sulfotransferase activity TAS --
GO:0008146 sulfotransferase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with HS2ST1: view
genes like me logo Genes that share phenotypes with HS2ST1: view

Animal Models for HS2ST1 Gene

MGI Knock Outs for HS2ST1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HS2ST1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HS2ST1 Gene

Localization for HS2ST1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HS2ST1 Gene

Golgi apparatus membrane; Single-pass type II membrane protein.

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 HS2ST1 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 2
plasma membrane 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HS2ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HS2ST1: view

Pathways & Interactions for HS2ST1 Gene

genes like me logo Genes that share pathways with HS2ST1: view

Pathways by source for HS2ST1 Gene

Gene Ontology (GO) - Biological Process for HS2ST1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS --
genes like me logo Genes that share ontologies with HS2ST1: view

No data available for SIGNOR curated interactions for HS2ST1 Gene

Drugs & Compounds for HS2ST1 Gene

(1) Drugs for HS2ST1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for HS2ST1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with HS2ST1: view

Transcripts for HS2ST1 Gene

mRNA/cDNA for HS2ST1 Gene

Unigene Clusters for HS2ST1 Gene

Heparan sulfate 2-O-sulfotransferase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HS2ST1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HS2ST1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c · 10d · 10e ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14
SP1: - - - - - - - - - - - - -
SP2: - - -
SP3: - -
SP4: - -
SP5:
SP6: - - -
SP7: - - - -
SP8:
SP9:

Relevant External Links for HS2ST1 Gene

GeneLoc Exon Structure for
HS2ST1
ECgene alternative splicing isoforms for
HS2ST1

Expression for HS2ST1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HS2ST1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HS2ST1 Gene

This gene is overexpressed in Adrenal (18.8), Pancreas (15.6), Lung (13.9), and Testis (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HS2ST1 Gene



Protein tissue co-expression partners for HS2ST1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HS2ST1 Gene:

HS2ST1

SOURCE GeneReport for Unigene cluster for HS2ST1 Gene:

Hs.743280

Evidence on tissue expression from TISSUES for HS2ST1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with HS2ST1: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HS2ST1 Gene

Orthologs for HS2ST1 Gene

This gene was present in the common ancestor of animals.

Orthologs for HS2ST1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HS2ST1 33
  • 99.91 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 99 (a)
OneToMany
HS2ST1 33
  • 94.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 99 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
cow
(Bos Taurus)
Mammalia HS2ST1 33
  • 93.76 (n)
-- 34
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Hs2st1 33
  • 88.76 (n)
mouse
(Mus musculus)
Mammalia Hs2st1 33 16 34
  • 88.3 (n)
chicken
(Gallus gallus)
Aves HS2ST1 33 34
  • 84.55 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hs2st1 33
  • 81.65 (n)
African clawed frog
(Xenopus laevis)
Amphibia hs2st 33
zebrafish
(Danio rerio)
Actinopterygii hs2st1b 34
  • 84 (a)
ManyToMany
hs2st1a 33 34
  • 74.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sd 35
  • 60 (a)
Hs2st 35 33 34
  • 57.93 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008166 33
  • 59.34 (n)
worm
(Caenorhabditis elegans)
Secernentea hst-2 35 34
  • 50 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.15173 33
Species where no ortholog for HS2ST1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 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)

Evolution for HS2ST1 Gene

ENSEMBL:
Gene Tree for HS2ST1 (if available)
TreeFam:
Gene Tree for HS2ST1 (if available)

Paralogs for HS2ST1 Gene

Paralogs for HS2ST1 Gene

(1) SIMAP similar genes for HS2ST1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HS2ST1: view

Variants for HS2ST1 Gene

Sequence variations from dbSNP and Humsavar for HS2ST1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000026662 -- 87,050,120(+) TAAGT(G/T)ATTTA intron-variant
rs1000043027 -- 87,102,369(+) CTTTT(A/T)AATAA intron-variant
rs1000048937 -- 86,941,939(+) AATGA(A/G)TGAAA intron-variant
rs1000065441 -- 87,095,520(+) GCTTT(A/T)GATTT intron-variant
rs1000067630 -- 87,008,775(+) AAATA(C/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HS2ST1 Gene

Variant ID Type Subtype PubMed ID
dgv134e59 CNV tandem duplication 20981092
esv1002791 CNV insertion 20482838
esv1005148 CNV insertion 20482838
esv1375917 CNV insertion 17803354
esv1704081 CNV deletion 17803354
esv2476077 CNV insertion 19546169
esv2675888 CNV deletion 23128226
esv28524 CNV loss 19812545
esv3307121 CNV mobile element insertion 20981092
esv3344383 CNV insertion 20981092
esv3363301 CNV insertion 20981092
esv3385507 CNV insertion 20981092
esv3582137 CNV gain 25503493
esv3586712 CNV loss 21293372
nsv1116603 CNV tandem duplication 24896259
nsv473952 CNV novel sequence insertion 20440878
nsv477430 CNV novel sequence insertion 20440878
nsv480090 CNV novel sequence insertion 20440878
nsv509380 CNV insertion 20534489
nsv512744 CNV insertion 21212237
nsv946042 CNV duplication 23825009

Variation tolerance for HS2ST1 Gene

Residual Variation Intolerance Score: 24.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.30; 25.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HS2ST1 Gene

Human Gene Mutation Database (HGMD)
HS2ST1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HS2ST1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HS2ST1 Gene

Disorders for HS2ST1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for HS2ST1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
spherocytosis, type 2
  • hereditary spherocytosis type 2
renal hypodysplasia/aplasia 1
  • renal agenesis
hereditary spherocytosis
  • congenital spherocytic hemolytic anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HS2ST1

Genetic Association Database (GAD)
HS2ST1
Human Genome Epidemiology (HuGE) Navigator
HS2ST1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HS2ST1
genes like me logo Genes that share disorders with HS2ST1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HS2ST1 Gene

Publications for HS2ST1 Gene

  1. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PMID: 9455484) Seki N … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60

Products for HS2ST1 Gene

Sources for HS2ST1 Gene

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