Seroatlas · Human Serome Atlas

EXT2

Exostosin-2

Also known as: EXT2_HUMAN, SOTV

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q93063
Gene: EXT2
Ensembl: ENSG00000151348
Chromosome: 11
Canonical length: 718 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Golgi apparatus
Secretome location: Intracellular and membrane

OverviewNCBI Gene

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

718 residues, UniProt reviewed canonical sequence.

>Q93063|EXT2
     1  MCASVKYNIR GPALIPRMKT KHRIYYITLF SIVLLGLIAT GMFQFWPHSI ESSNDWNVEK
    61  RSIRDVPVVR LPADSPIPER GDLSCRMHTC FDVYRCGFNP KNKIKVYIYA LKKYVDDFGV
   121  SVSNTISREY NELLMAISDS DYYTDDINRA CLFVPSIDVL NQNTLRIKET AQAMAQLSRW
   181  DRGTNHLLFN MLPGGPPDYN TALDVPRDRA LLAGGGFSTW TYRQGYDVSI PVYSPLSAEV
   241  DLPEKGPGPR QYFLLSSQVG LHPEYREDLE ALQVKHGESV LVLDKCTNLS EGVLSVRKRC
   301  HKHQVFDYPQ VLQEATFCVV LRGARLGQAV LSDVLQAGCV PVVIADSYIL PFSEVLDWKR
   361  ASVVVPEEKM SDVYSILQSI PQRQIEEMQR QARWFWEAYF QSIKAIALAT LQIINDRIYP
   421  YAAISYEEWN DPPAVKWGSV SNPLFLPLIP PQSQGFTAIV LTYDRVESLF RVITEVSKVP
   481  SLSKLLVVWN NQNKNPPEDS LWPKIRVPLK VVRTAENKLS NRFFPYDEIE TEAVLAIDDD
   541  IIMLTSDELQ FGYEVWREFP DRLVGYPGRL HLWDHEMNKW KYESEWTNEV SMVLTGAAFY
   601  HKYFNYLYTY KMPGDIKNWV DAHMNCEDIA MNFLVANVTG KAVIKVTPRK KFKCPECTAI
   661  DGLSLDQTHM VERSECINKF ASVFGTMPLK VVEHRADPVL YKDDFPEKLK SFPNIGSL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXT2 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: Secreted
Secreted: Yes
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 56 nTPM

Expression across tissuesHPA

Tissue

placenta: 56 nTPM
smooth muscle: 45 nTPM
blood vessel: 37 nTPM
ovary: 35 nTPM
endometrium: 35 nTPM
cervix: 32 nTPM

Single-cell type

ependymal cells: 101 nCPM
ocular epithelial cells: 92 nCPM
early primary spermatocytes: 92 nCPM
rod photoreceptor cells: 90 nCPM
brain excitatory neurons: 88 nCPM
adrenal cortex cells: 86 nCPM

Immune cell

NK-cell: 18 nTPM
MAIT T-cell: 17 nTPM
myeloid DC: 16 nTPM
gdT-cell: 15 nTPM
memory CD8 T-cell: 15 nTPM
eosinophil: 14 nTPM

Brain region

choroid plexus: 19 nTPM
hypothalamus: 16 nTPM
thalamus: 16 nTPM
white matter: 15 nTPM
midbrain: 15 nTPM
pons: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXT2.

Disease | AllUniProt

Conditions EXT2 is implicated in, by any mechanism.

Hereditary multiple exostoses 2 (EXT2) MIM:133701
Seizures, scoliosis, and macrocephaly/microcephaly syndrome (SSMS) MIM:616682

Disease | GeneticClinVar

233 pathogenic / likely-pathogenic of 1,032 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Exostoses, multiple, type 2
Seizures-scoliosis-macrocephaly syndrome
EXT2-related disorder
Inborn genetic diseases
Ovarian cancer

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): 0.77
gnomAD pLI: 0
gnomAD missense Z: 0.64
DepMap mean gene effect: -0.23
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EXT2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EXT2 as an antibody target. Whether an autoantibody or antibody against EXT2 could matter depends on whether native EXT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXT2 is annotated as secreted, so native EXT2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label EXT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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