UST uronyl 2-sulfotransferase [Homo sapiens (human)] - Gene

Summary

Official Symbol: USTprovided by HGNC
Official Full Name: uronyl 2-sulfotransferaseprovided by HGNC
Primary source: HGNC:HGNC:17223
See related: Ensembl:ENSG00000111962 MIM:610752; AllianceGenome:HGNC:17223
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: 2OST
Summary: Uronyl 2-sulfotransferase transfers sulfate to the 2-position of uronyl residues, such as iduronyl residues in dermatan sulfate and glucuronyl residues in chondroitin sulfate (Kobayashi et al., 1999 [PubMed 10187838]).[supplied by OMIM, Mar 2008]
Expression: Broad expression in thyroid (RPKM 10.7), adrenal (RPKM 4.5) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q25.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (148747030..149076990)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (149946826..150276839)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (149068166..149398126)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Results show that overexpression of 2OST alone in the HEK293 cells did not appreciably affect heparan sulfate (HS) chain length. Also, its simultaneous overexpression with Hsepi abolished the effect of Hsepi overexpression on the HS chain lengh.
Title: Enzyme overexpression - an exercise toward understanding regulation of heparan sulfate biosynthesis.
Statistical analysis showed the strongest evidence for a variant located in an intron of UST associated with job-related exhaustion.
Title: Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Genome-wide pharmacogenetics of antidepressant response in the GENDEP project.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
2OST transfers sulfate preferentially to the GlcA residue located in a unique sequence, -GalNAc(4SO(4))-GlcA-GalNAc(6SO(4))-.
Title: Recognition of sulfation pattern of chondroitin sulfate by uronosyl 2-O-sulfotransferase.
analysis of differences and similarities various residues play in the biological roles of the HS-2OST and CS-2OST enzymes
Title: Mutational study of heparan sulfate 2-O-sulfotransferase and chondroitin sulfate 2-O-sulfotransferase.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide pharmacogenetics of antidepressant response in the GENDEP project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide scan of job-related exhaustion with three replication studies implicate a susceptibility variant at the UST gene locus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:485655

D6S1564 (e-PCR), detects polymorphism
- UniSTS:70501

RH46094 (e-PCR)
- UniSTS:79979

D6S1148E (e-PCR)
- UniSTS:83075

SHGC-146752 (e-PCR)
- UniSTS:172676

D6S1329 (e-PCR)
- UniSTS:61326

SGC44468 (e-PCR)
- UniSTS:74135

SHGC-83979 (e-PCR)
- UniSTS:184476

SHGC-44468 (e-PCR)
- UniSTS:61354

SHGC-152794 (e-PCR)
- UniSTS:177605

SHGC-148649 (e-PCR)
- UniSTS:173034

SHGC-58640 (e-PCR)
- UniSTS:94443

SHGC-111955 (e-PCR)
- UniSTS:184307

RH92645 (e-PCR)
- UniSTS:85238

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables sulfotransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables sulfotransferase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in dermatan sulfate biosynthetic process	TAS Traceable Author Statement more info
involved_in establishment of cell polarity	IEA Inferred from Electronic Annotation more info
involved_in protein sulfation	TAS Traceable Author Statement more info	PubMed
involved_in regulation of axonogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: uronyl 2-sulfotransferase

Names: dermatan/chondroitin sulfate 2-sulfotransferase

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.

mRNA and Protein(s)

NM_005715.3 → NP_005706.1 uronyl 2-sulfotransferase

See identical proteins and their annotated locations for NP_005706.1

Status: VALIDATED

Source sequence(s)

AB020316, AI570697, AL807246, BC093668, CA842761, DB496757

Consensus CDS

CCDS5213.1

UniProtKB/Swiss-Prot

B2RCX6, Q9Y2C2

UniProtKB/TrEMBL

A8KA57

Related

ENSP00000356433.4, ENST00000367463.5

Conserved Domains (1) summary

cl22970
Location:104 → 356

Sulfotransfer_2; Sulfotransferase family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

148747030..149076990

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047418047.1 → XP_047274003.1 uronyl 2-sulfotransferase isoform X1
XM_047418048.1 → XP_047274004.1 uronyl 2-sulfotransferase isoform X1
XM_011535378.4 → XP_011533680.1 uronyl 2-sulfotransferase isoform X2

Conserved Domains (1) summary

cl22970
Location:104 → 211

Sulfotransfer_2; Sulfotransferase family
XM_017010152.2 → XP_016865641.1 uronyl 2-sulfotransferase isoform X3