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HS6ST2 heparan sulfate 6-O-sulfotransferase 2 [ Homo sapiens (human) ]

Gene ID: 90161, updated on 11-Nov-2019

Summary

Official Symbol
HS6ST2provided by HGNC
Official Full Name
heparan sulfate 6-O-sulfotransferase 2provided by HGNC
Primary source
HGNC:HGNC:19133
See related
Ensembl:ENSG00000171004 MIM:300545
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MRXSPM
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]
Expression
Biased expression in kidney (RPKM 4.4), ovary (RPKM 4.1) and 11 other tissues See more
Orthologs

Genomic context

See HS6ST2 in Genome Data Viewer
Location:
Xq26.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (132626012..132961370, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131760038..132095423, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RAP2C antisense RNA 1 Neighboring gene muscleblind like splicing regulator 3 Neighboring gene RNA, U6 small nuclear 98, pseudogene Neighboring gene HS6ST2 antisense RNA 1 Neighboring gene N-alpha-acetyltransferase 20 pseudogene Neighboring gene uncharacterized LOC107983959 Neighboring gene ubiquitin specific peptidase 26

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
PAGANINI-MIOZZO SYNDROME
MedGen: CN258821 OMIM: 301025 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
  • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
    Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
  • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
    HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
  • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
    Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    Metapathway biotransformation, organism-specific biosystem
    Metapathway biotransformation
  • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis, organism-specific biosystem
    heparan sulfate biosynthesis
  • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
  • heparan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), organism-specific biosystemBackground : Heparan-Sulfate "Heparan sulfate" is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to cell s...
  • heparan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
    heparan sulfate biosynthesis (late stages), conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC130022, MGC130023

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heparan sulfate 6-O-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
glycosaminoglycan biosynthetic process TAS
Traceable Author Statement
more info
 
heparan sulfate proteoglycan biosynthetic process, enzymatic modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
heparan-sulfate 6-O-sulfotransferase 2
Names
HS6ST-2
NP_001070656.1
NP_671704.3
XP_005262548.1
XP_011529708.1
XP_011529709.1
XP_011529710.1
XP_016885434.1
XP_016885435.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012840.1 RefSeqGene

    Range
    5026..340381
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077188.2NP_001070656.1  heparan-sulfate 6-O-sulfotransferase 2 isoform L

    See identical proteins and their annotated locations for NP_001070656.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (L) represents the longer transcript and encodes the longer isoform (L).
    Source sequence(s)
    AB067776, AI253113, AK056706, BC110620
    Consensus CDS
    CCDS48170.1
    UniProtKB/Swiss-Prot
    Q96MM7
    Related
    ENSP00000429473.1, ENST00000521489.5
    Conserved Domains (1) summary
    pfam03567
    Location:225530
    Sulfotransfer_2; Sulfotransferase family
  2. NM_147175.4NP_671704.3  heparan-sulfate 6-O-sulfotransferase 2 isoform S

    See identical proteins and their annotated locations for NP_671704.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (S) lacks an alternate in-frame segment, compared to variant L, resulting in a shorter protein (isoform S).
    Source sequence(s)
    AI253113, AK056706, BC110620
    Consensus CDS
    CCDS48169.1
    UniProtKB/Swiss-Prot
    Q96MM7
    Related
    ENSP00000359873.2, ENST00000370836.6
    Conserved Domains (1) summary
    pfam03567
    Location:225490
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    132626012..132961370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262491.3XP_005262548.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X1

    Conserved Domains (1) summary
    pfam03567
    Location:225501
    Sulfotransfer_2; Sulfotransferase family
  2. XM_017029946.1XP_016885435.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X3

  3. XM_017029945.1XP_016885434.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

    UniProtKB/Swiss-Prot
    Q96MM7
    Conserved Domains (1) summary
    pfam03567
    Location:79384
    Sulfotransfer_2; Sulfotransferase family
  4. XM_011531406.1XP_011529708.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X2

    See identical proteins and their annotated locations for XP_011529708.1

    UniProtKB/Swiss-Prot
    Q96MM7
    Conserved Domains (1) summary
    pfam03567
    Location:79384
    Sulfotransfer_2; Sulfotransferase family
  5. XM_011531407.3XP_011529709.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X4

    Conserved Domains (1) summary
    cl22970
    Location:225307
    Sulfotransfer_2; Sulfotransferase family
  6. XM_011531408.3XP_011529710.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X5

    Conserved Domains (1) summary
    cl22970
    Location:225307
    Sulfotransfer_2; Sulfotransferase family
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