HS6ST2

Protein identityUniProt · HPA

UniProt accession

Q96MM7

Gene

HS6ST2

Ensembl

ENSG00000171004

Chromosome

X

Canonical length

605 aa

Protein class

Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Golgi apparatus,Plasma membrane

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

605 residues, UniProt reviewed canonical sequence.

>Q96MM7|HS6ST2
     1  MALPACAVRE FEPPRQPERG APVRTTCPRR HSRVEAELAA SRPGSVAASV RAGPPRGVSH
    61  GFHTRPLLDK PRKASSSLAG AACAPLFALL SRGRRRRMHV LRRRWDLGSL CRALLTRGLA
   121  ALGHSLKHVL GAIFSKIFGP MASVGNMDEK SNKLLLALVM LFLFAVIVLQ YVCPGTECQL
   181  LRLQAFSSPV PDPYRSEDES SARFVPRYNF TRGDLLRKVD FDIKGDDLIV FLHIQKTGGT
   241  TFGRHLVRNI QLEQPCECRV GQKKCTCHRP GKRETWLFSR FSTGWSCGLH ADWTELTSCV
   301  PSVVDGKRDA RLRPSRNFHY ITILRDPVSR YLSEWRHVQR GATWKASLHV CDGRPPTSEE
   361  LPSCYTGDDW SGCPLKEFMD CPYNLANNRQ VRMLSDLTLV GCYNLSVMPE KQRNKVLLES
   421  AKSNLKHMAF FGLTEFQRKT QYLFEKTFNM NFISPFTQYN TTRASSVEIN EEIQKRIEGL
   481  NFLDMELYSY AKDLFLQRYQ FMRQKEHQEA RRKRQEQRKF LKGRLLQTHF QSQGQGQSQN
   541  PNQNQSQNPN PNANQNLTQN LMQNLTQSLS QKENRESPKQ NSGKEQNDNT SNGTNDYIGS
   601  VEKWR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against HS6ST2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

15 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about HS6ST2.

Disease | AllUniProt

Conditions HS6ST2 is implicated in, by any mechanism.

• Paganini-Miozzo syndrome (MRXSPM) MIM:301025

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 116 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Paganini-Miozzo syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.93

gnomAD pLI

0

gnomAD missense Z

1.4

DepMap mean gene effect

0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• heparan sulfate proteoglycan biosynthetic process

Molecular functions

• heparan sulfate 6-sulfotransferase activity

Cellular components

• Golgi membrane

Protein domainsUniProt · Pfam · InterPro

• Sulfotransferase
• Heparan sulphate 6-sulfotransferase/Protein-tyrosine sulfotransferase
• P-loop containing nucleoside triphosphate hydrolase
• Sulfotransferase family

KeywordsUniProt

• Glycoprotein
• Intellectual disability
• Membrane
• Signal-anchor
• Transferase
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of HS6ST2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CANX