This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009] See more...

Aliases for NDST2 Gene

Aliases for NDST2 Gene

  • N-Deacetylase And N-Sulfotransferase 2 2 3 5
  • Bifunctional Heparan Sulfate N-Deacetylase/N-Sulfotransferase 2 3 4
  • N-Deacetylase/N-Sulfotransferase (Heparan Glucosaminyl) 2 2 3
  • Glucosaminyl N-Deacetylase/N-Sulfotransferase 2 3 4
  • N-Heparan Sulfate Sulfotransferase 2 3 4
  • N-HSST 2 3 4
  • HSST2 3 4
  • EC 2.8.2.8 4
  • NDST-2 4
  • NST2 3

External Ids for NDST2 Gene

Previous GeneCards Identifiers for NDST2 Gene

  • GC10M074340
  • GC10M074665
  • GC10M075454
  • GC10M074906
  • GC10M075231
  • GC10M075561
  • GC10M069557

Summaries for NDST2 Gene

Entrez Gene Summary for NDST2 Gene

  • This gene encodes a member of the N-deacetylase/N-sulfotransferase subfamily of the sulfotransferase 1 proteins. The encoded enzyme has dual functions in processing glucosamine and heparin polymers, including N-deacetylation and N-sulfation. The encoded protein may be localized to the Golgi. [provided by RefSeq, Feb 2009]

GeneCards Summary for NDST2 Gene

NDST2 (N-Deacetylase And N-Sulfotransferase 2) is a Protein Coding gene. Diseases associated with NDST2 include Microphthalmia. Among its related pathways are Glycosaminoglycan metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and [heparan sulfate]-glucosamine N-sulfotransferase activity. An important paralog of this gene is ENSG00000272916.

UniProtKB/Swiss-Prot Summary for NDST2 Gene

  • Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for NDST2 Gene

Additional gene information for NDST2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDST2 Gene

Genomics for NDST2 Gene

GeneHancer (GH) Regulatory Elements for NDST2 Gene

Promoters and enhancers for NDST2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDST2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDST2

Top Transcription factor binding sites by QIAGEN in the NDST2 gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Egr-4
  • GR
  • GR-alpha
  • Nkx2-5
  • Nkx3-1 v3
  • Nkx3-1 v4

Genomic Locations for NDST2 Gene

Genomic Locations for NDST2 Gene
chr10:73,801,911-73,811,831
(GRCh38/hg38)
Size:
9,921 bases
Orientation:
Minus strand
chr10:75,561,669-75,571,589
(GRCh37/hg19)
Size:
9,921 bases
Orientation:
Minus strand

Genomic View for NDST2 Gene

Genes around NDST2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDST2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDST2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDST2 Gene

Proteins for NDST2 Gene

  • Protein details for NDST2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52849-NDST2_HUMAN
    Recommended name:
    Bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 2
    Protein Accession:
    P52849
    Secondary Accessions:
    • Q2TB32
    • Q59H89

    Protein attributes for NDST2 Gene

    Size:
    883 amino acids
    Molecular mass:
    100875 Da
    Quaternary structure:
    • Monomer.
    Miscellaneous:
    • The presence of 4 different heparan sulfate N-deacetylase/N-sulfotransferase enzymes in mammals, as well as differences in their enzyme activity suggest that some initiate heparan sulfate modification/sulfation reactions, whereas other later on fill in or extend already modified heparan sulfate sequences.

    Alternative splice isoforms for NDST2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDST2 Gene

Post-translational modifications for NDST2 Gene

  • Glycosylation at Asn233, Asn350, Asn400, Asn666, Asn726, and Asn802
  • Modification sites at PhosphoSitePlus

Other Protein References for NDST2 Gene

No data available for DME Specific Peptides for NDST2 Gene

Domains & Families for NDST2 Gene

Gene Families for NDST2 Gene

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

Protein Domains for NDST2 Gene

Suggested Antigen Peptide Sequences for NDST2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51551, highly similar to Bifunctional heparan sulfateN-deacetylase/N-sulfotransferase 2 (EC 2.8.2.8) (B4DE98_HUMAN)
  • N-heparan sulfate sulfotransferase 2 (NDST2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52849

UniProtKB/Swiss-Prot:

NDST2_HUMAN :
  • Belongs to the sulfotransferase 1 family. NDST subfamily.
Family:
  • Belongs to the sulfotransferase 1 family. NDST subfamily.
genes like me logo Genes that share domains with NDST2: view

Function for NDST2 Gene

Molecular function for NDST2 Gene

UniProtKB/Swiss-Prot Function:
Essential bifunctional enzyme that catalyzes both the N-deacetylation and the N-sulfation of glucosamine (GlcNAc) of the glycosaminoglycan in heparan sulfate. Modifies the GlcNAc-GlcA disaccharide repeating sugar backbone to make N-sulfated heparosan, a prerequisite substrate for later modifications in heparin biosynthesis. Plays a role in determining the extent and pattern of sulfation of heparan sulfate. Required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3'-phosphoadenylyl sulfate + alpha-D-glucosaminyl-[heparan sulfate](n) = adenosine 3',5'-bisphosphate + 2 H(+) + N-sulfo-alpha-D-glucosaminyl-[heparan sulfate](n); Xref=Rhea:RHEA:21980, Rhea:RHEA-COMP:9830, Rhea:RHEA-COMP:14602, ChEBI:CHEBI:15378, ChEBI:CHEBI:58339, ChEBI:CHEBI:58343, ChEBI:CHEBI:58388, ChEBI:CHEBI:140572; EC=2.8.2.8;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=4.7 uM for K5 polysaccharide {ECO:0000269 PubMed:12634318}; KM=0.76 uM for N-acetylated HS-II {ECO:0000269 PubMed:12634318};
GENATLAS Biochemistry:
heparan sulfate-N-deacetylase/N-sulfotransferase 2,with two alternative forms,predominantly expressed in heart,liver,pancreas,located to the trans-Golgi network

Enzyme Numbers (IUBMB) for NDST2 Gene

Phenotypes From GWAS Catalog for NDST2 Gene

Gene Ontology (GO) - Molecular Function for NDST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0008146 sulfotransferase activity IEA --
GO:0015016 [heparan sulfate]-glucosamine N-sulfotransferase activity IEA,IBA 21873635
GO:0016740 transferase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with NDST2: view
genes like me logo Genes that share phenotypes with NDST2: view

Animal Models for NDST2 Gene

MGI Knock Outs for NDST2:

Animal Model Products

  • Taconic Biosciences Mouse Models for NDST2

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDST2

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for NDST2 Gene

Localization for NDST2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDST2 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 NDST2 gene
Compartment Confidence
golgi apparatus 5
extracellular 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
plasma membrane 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NDST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NDST2: view

Pathways & Interactions for NDST2 Gene

genes like me logo Genes that share pathways with NDST2: view

UniProtKB/Swiss-Prot P52849-NDST2_HUMAN

  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparin biosynthesis.

Gene Ontology (GO) - Biological Process for NDST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006024 glycosaminoglycan biosynthetic process TAS --
GO:0008152 metabolic process IEA --
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IBA 21873635
GO:0030210 heparin biosynthetic process IEA --
genes like me logo Genes that share ontologies with NDST2: view

No data available for SIGNOR curated interactions for NDST2 Gene

Drugs & Compounds for NDST2 Gene

(2) Additional Compounds for NDST2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Adenosine 3',5'-diphosphate
  • 3'-Phosphoadenylate
  • Adenosine 3',5'-bisphosphate
  • PAP
  • Phosphoadenosine phosphate
  • 3'-Phosphoadenylic acid
1053-73-2
Phosphoadenosine phosphosulfate
  • 3'-Phosphoadenosine 5'-phosphosulfate
  • 3'-Phosphoadenylyl sulfate
  • PAPS
  • 3'-Phosphoadenosine 5'-phosphosulfuric acid
  • 3'-Phosphoadenosine 5'-phosphosulphate
482-67-7
genes like me logo Genes that share compounds with NDST2: view

Transcripts for NDST2 Gene

mRNA/cDNA for NDST2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDST2

Alternative Splicing Database (ASD) splice patterns (SP) for NDST2 Gene

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

Relevant External Links for NDST2 Gene

GeneLoc Exon Structure for
NDST2

Expression for NDST2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDST2 Gene

mRNA differential expression in normal tissues according to GTEx for NDST2 Gene

This gene is overexpressed in Whole Blood (x4.2).

Protein differential expression in normal tissues from HIPED for NDST2 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (49.2), Adipocyte (10.8), and Spleen (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDST2 Gene



Protein tissue co-expression partners for NDST2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDST2

SOURCE GeneReport for Unigene cluster for NDST2 Gene:

Hs.654758

Evidence on tissue expression from TISSUES for NDST2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with NDST2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NDST2 Gene

Orthologs for NDST2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDST2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NDST2 31 30
  • 99.77 (n)
OneToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 98 (a)
OneToMany
NDST2 30
  • 94.64 (n)
cow
(Bos Taurus)
Mammalia NDST2 31 30
  • 93.39 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 93 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ndst2 17 31 30
  • 91.51 (n)
rat
(Rattus norvegicus)
Mammalia Ndst2 30
  • 90.18 (n)
chicken
(Gallus gallus)
Aves -- 31
  • 82 (a)
OneToMany
NDST2 30
  • 74.15 (n)
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 81 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ndst2 30
  • 71.08 (n)
zebrafish
(Danio rerio)
Actinopterygii ndst2a 31 31 30
  • 70.77 (n)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006328 30
  • 59.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta sfl 31 32 30
  • 56.65 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hst-1 31 32 30
  • 49.28 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToMany
Species where no ortholog for NDST2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 NDST2 Gene

ENSEMBL:
Gene Tree for NDST2 (if available)
TreeFam:
Gene Tree for NDST2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDST2: view image

Paralogs for NDST2 Gene

(6) SIMAP similar genes for NDST2 Gene using alignment to 5 proteins:

  • NDST2_HUMAN
  • H7C032_HUMAN
  • J3KNC8_HUMAN
  • S4R438_HUMAN
  • V9GY34_HUMAN
genes like me logo Genes that share paralogs with NDST2: view

Variants for NDST2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDST2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs141599100 Likely Benign: Anophthalmia - microphthalmia 73,808,190(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs368488804 Likely Benign: Anophthalmia - microphthalmia 73,808,364(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for NDST2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NDST2 Gene

Variant ID Type Subtype PubMed ID
dgv46n21 CNV loss 19592680
nsv1035634 CNV gain 25217958
nsv551516 CNV loss 21841781
nsv551517 CNV loss 21841781
nsv825468 CNV gain 20364138
nsv831912 CNV gain 17160897

Variation tolerance for NDST2 Gene

Residual Variation Intolerance Score: 17.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDST2 Gene

Human Gene Mutation Database (HGMD)
NDST2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDST2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDST2 Gene

Disorders for NDST2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NDST2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
microphthalmia
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards
Search NDST2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NDST2

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 NDST2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDST2 Gene

Publications for NDST2 Gene

  1. Characterization of the N-deacetylase domain from the heparan sulfate N-deacetylase/N-sulfotransferase 2. (PMID: 16343444) Duncan MB … Liu J (Biochemical and biophysical research communications 2006) 3 4 23 54
  2. cDNA cloning, genomic organization and chromosomal localization of human heparan glucosaminyl N-deacetylase/N-sulphotransferase-2. (PMID: 9601056) Humphries DE … Karlinsky JB (The Biochemical journal 1998) 2 3 4 54
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 41 54
  4. 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 54
  5. Influence of high glucose concentrations on the expression of glycosaminoglycans and N-deacetylase/N-sulphotransferase mRNA in cultured skin fibroblasts from diabetic patients with or without nephropathy. (PMID: 11865082) Yard B … van Der Woude F (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2002) 3 23 54

Products for NDST2 Gene

Sources for NDST2 Gene