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

Gene ID: 90161, updated on 8-Jan-2023

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; AllianceGenome:HGNC:19133
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
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Genomic context

See HS6ST2 in Genome Data Viewer
Location:
Xq26.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132626015..132961370, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130950680..131286084, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131760043..132095398, 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 uncharacterized LOC124905219 Neighboring gene NAA20 pseudogene 1 Neighboring gene ubiquitin specific peptidase 26 Neighboring gene DEAD-box helicase 53 pseudogene

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: C5193010 OMIM: 301025 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Pathways from PubChem

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
enables heparan sulfate 6-O-sulfotransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables heparan sulfate 6-O-sulfotransferase activity TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
heparan-sulfate 6-O-sulfotransferase 2
Names
HS6ST-2
NP_001070656.1
NP_001381002.1
NP_001381003.1
NP_671704.3
XP_011529708.1
XP_016885434.1
XP_016885435.1
XP_047298574.1
XP_047298575.1
XP_047298576.1

NCBI Reference Sequences (RefSeq)

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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_012840.2 RefSeqGene

    Range
    7741..340355
    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_001394073.1NP_001381002.1  heparan-sulfate 6-O-sulfotransferase 2 isoform L

    Status: REVIEWED

    Source sequence(s)
    Z81365, Z86064
    Consensus CDS
    CCDS48170.1
    Related
    ENSP00000359870.3, ENST00000370833.7
    Conserved Domains (1) summary
    pfam03567
    Location:225530
    Sulfotransfer_2; Sulfotransferase family
  3. NM_001394074.1NP_001381003.1  heparan-sulfate 6-O-sulfotransferase 2 isoform S

    Status: REVIEWED

    Source sequence(s)
    Z81365, Z86064
    Consensus CDS
    CCDS48169.1
    UniProtKB/Swiss-Prot
    Q96SJ4
    Conserved Domains (1) summary
    pfam03567
    Location:225490
    Sulfotransfer_2; Sulfotransferase family
  4. 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, Q96SJ4
    Related
    ENSP00000359873.2, ENST00000370836.6
    Conserved Domains (1) summary
    pfam03567
    Location:225490
    Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    132626015..132961370 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047442618.1XP_047298574.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X1

  2. XM_047442619.1XP_047298575.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X4

  3. XM_017029946.2XP_016885435.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X3

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

    UniProtKB/Swiss-Prot
    Q96MM7
    Related
    ENSP00000491722.2, ENST00000640529.2
    Conserved Domains (1) summary
    pfam03567
    Location:79384
    Sulfotransfer_2; Sulfotransferase family
  5. XM_011531406.2XP_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
    Related
    ENSP00000384013.5, ENST00000406696.5
    Conserved Domains (1) summary
    pfam03567
    Location:79384
    Sulfotransfer_2; Sulfotransferase family
  6. XM_047442620.1XP_047298576.1  heparan-sulfate 6-O-sulfotransferase 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    130950680..131286084 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_147174.2: Suppressed sequence

    Description
    NM_147174.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.