HS2ST1 - heparan sulfate 2-O-sulfotransferase 1 Gene

Also Known as NFSRA; dJ604K5.2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9653

About HS2ST1

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:86,914,635-87,109,982 (from NCBI)

This gene has 7 transcripts (splice variants), 265 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 13.4), thyroid (RPKM 7.8) and 25 other tissues.

Summary

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]

HS2ST1 Products (2)

mRNA Protein Name
NM_001134492.2 NP_001127964.1 heparan sulfate 2-O-sulfotransferase 1 isoform 2
NM_012262.4 NP_036394.1 heparan sulfate 2-O-sulfotransferase 1 isoform 1

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
32814053 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HS2ST1 Protein Structure

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (71 - 326)

  • 0
  • 100
  • 200
  • 300
  • 356 a.a.
Protein Preferred Names Protein Names

heparan sulfate 2-O-sulfotransferase 1

  • 2-O-sulfotransferase

Related Diseases

Diseases Alias
Neurofacioskeletal Syndrome With Or Without Renal Agenesis

  • NFSRA

  • Neurodevelopmental Disorder With Corpus Callosum Agenesis, Craniofacial Dysmorphism, And Skeletal Anomalies, With Or Without Renal Agenesis

  • Neurofacioskeletal Syndrome Without Renal Agenesis
Non-Specific Syndromic Intellectual Disability

  • Complex Neurodevelopmental Disorder
Omodysplasia

  • Omodysplasia Type 1

  • Omodysplasia 2
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

  • Spondyloepiphyseal Dysplasia

  • Chst3-Related Skeletal Dysplasia

  • Humerospinal Dysostosis

  • Spondyloepiphyseal Dysplasia, Omani Type

  • Chondrodysplasia With Multiple Dislocations

  • SEDCJD

  • Hsd

  • Cdmd

  • Humero-Spinal Dysostosis

  • Kozlowski Celermajer Tink Syndrome

  • Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

  • Larsen Syndrome, Recessive Type

  • Humero-Spinal Dysostosis With Congenital Heart Disease

  • Omani Type

  • Sed

  • Chst3 Deficiency

  • Chst3-Related Dysplasia

  • Recessive Larsen Syndrome

  • Autosomal Recessive Larsen Syndrome

  • Sed With Luxations, Chst3 Type

  • Sed, Omani Type

  • Sdcd, Chst3 Type

  • Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

  • Sed Omani Type

  • Spondyloepiphyseal Dysplasia Omani Type

  • Larsen Syndrome, Autosomal Recessive

  • Mucopolysaccharidosis Iv

  • Spondyloepiphyseal Dysplasia, Congenita
Brachydactyly
Renal Hypodysplasia/Aplasia 1

  • Renal Agenesis

  • Renal Adysplasia

  • Renal Aplasia

  • RHDA1

  • Hereditary Renal Aplasia

  • Hra

  • Hereditary Urogenital Adysplasia

  • Hypodysplasia/Aplasia, Renal, Type 1

  • Congenital Absence Of Kidneys Syndrome

  • Congenital Absence Of Kidney

  • Aplastic Kidney
Bardet-Biedl Syndrome 1

  • BBS1

  • Bardet-Biedl Syndrome 1, Modifier Of

  • Bardet-Biedl Syndrome

  • BBS

  • Bardet-Biedl Syndrome, Type 1

  • Laurence-Moon-Bardet-Biedl Syndrome
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06376 HS2ST1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta HS2ST1 VGNC VGNC:99970
Mus musculus HS2ST1 MGD MGI:1346049
Felis catus HS2ST1 VGNC VGNC:80234
Rattus norvegicus HS2ST1 RGD RGD:1305366
Others HS2ST1 NCBI