HS2ST1 - heparan sulfate 2-O-sulfotransferase 1 Gene

Homo sapiens

Also known as NFSRA; dJ604K5.2

Gene ID: 9653 | Gene type: protein coding

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

HS2ST1 Protein Structure

Sulfotransfer_2

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06376	HS2ST1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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