1. Gene
  2. HS6ST2 - heparan sulfate 6-O-sulfotransferase 2 Gene

HS6ST2 - heparan sulfate 6-O-sulfotransferase 2 Gene

Homo sapiens

Also known as MRXSPM

Gene ID: 90161 | Gene type: protein coding

About HS6ST2

Cytogenetic location: Xq26.2 Genomic coordinates (GRCh38): X:132,626,015-132,961,370 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in kidney (RPKM 4.4), ovary (RPKM 4.1) and 11 other tissues.

Summary

Heparan sulfate proteoglycans are ubiquitous components of the cell surface, extracellular matrix, and basement membranes, and interact with various ligands to influence cell growth, differentiation, adhesion, and migration. This gene encodes a member of the heparan sulfate (HS) sulfotransferase gene family, which catalyze the transfer of sulfate to HS. Different family members and isoforms are thought to synthesize heparan sulfates with tissue-specific structures and functions. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

HS6ST2 Products(4)

mRNA Protein Name
NM_001077188.2 NP_001070656.1 heparan-sulfate 6-O-sulfotransferase 2 isoform L
NM_001394073.1 NP_001381002.1 heparan-sulfate 6-O-sulfotransferase 2 isoform L
NM_001394074.1 NP_001381003.1 heparan-sulfate 6-O-sulfotransferase 2 isoform S
NM_147175.4 NP_671704.3 heparan-sulfate 6-O-sulfotransferase 2 isoform S

HS6ST2 Protein Structure

Sulfotransfer_2

Sulfotransfer_2: Sulfotransferase family (220 - 491)

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  • 605 a.a.
Protein Preferred Names Protein Names

heparan-sulfate 6-O-sulfotransferase 2

HS6ST-2

Related Diseases

Diseases Alias
Paganini-Miozzo Syndrome

MRXSPM

Mental Retardation, X-Linked, Syndromic, Paganini-Miozzo Type

Cartilage Cancer

Chondrogenic Neoplasm

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Vulto-Van Silfhout-De Vries Syndrome

Vulto-Van Silfout-De Vries Syndrome

VSVS

Intellectual Developmental Disorder With Impaired Expressive Speech And Behavioral Abnormalities, With Or Without Seizures

Iddisbas

Mrd24

Mental Retardation, Autosomal Dominant 24

Autosomal Dominant Mental Retardation 24

Autosomal Dominant Non-Syndromic Intellectual Disability 24

Mental Retardation, Autosomal Dominant, Type 24

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

Orthologs Information

Species Symbol Source ID
Canis familiaris HS6ST2 VGNC VGNC:41794
Rattus norvegicus HS6ST2 RGD RGD:1564397
Mus musculus HS6ST2 MGD MGI:1354959
Macaca mulatta HS6ST2 VGNC VGNC:73422
Bos taurus HS6ST2 VGNC VGNC:106774