EXTL2
Exostosin-like 2
Also known as: EXTL2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9UBQ6
- Gene
- EXTL2
- Ensembl
- ENSG00000162694
- Chromosome
- 1
- Canonical length
- 330 aa
- Protein class
- Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
- Secretome location
- Intracellular and membrane
OverviewNCBI Gene
Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
330 residues, UniProt reviewed canonical sequence.
>Q9UBQ6|EXTL2
1 MRCCHICKLP GRVMGIRVLR LSLVVILVLL LVAGALTALL PSVKEDKMLM LRREIKSQGK
61 STMDSFTLIM QTYNRTDLLL KLLNHYQAVP NLHKVIVVWN NIGEKAPDEL WNSLGPHPIP
121 VIFKQQTANR MRNRLQVFPE LETNAVLMVD DDTLISTPDL VFAFSVWQQF PDQIVGFVPR
181 KHVSTSSGIY SYGSFEMQAP GSGNGDQYSM VLIGASFFNS KYLELFQRQP AAVHALIDDT
241 QNCDDIAMNF IIAKHIGKTS GIFVKPVNMD NLEKETNSGY SGMWHRAEHA LQRSYCINKL
301 VNIYDSMPLR YSNIMISQFG FPYANYKRKILocalizationUniProt · AlphaFold · HPA
Whether an antibody against EXTL2 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)
- 0.32
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- placenta: 23 nTPM
- adrenal gland: 23 nTPM
- ovary: 22 nTPM
- cerebral cortex: 20 nTPM
- basal ganglia: 18 nTPM
- endometrium: 17 nTPM
Single-cell type
- cytotrophoblasts: 304 nCPM
- migrating cytotrophoblasts: 158 nCPM
- choroid plexus epithelial cells: 123 nCPM
- ependymal cells: 85 nCPM
- syncytiotrophoblasts: 81 nCPM
- adrenal cortex cells: 77 nCPM
Immune cell
- plasmacytoid DC: 4.6 nTPM
- NK-cell: 3.9 nTPM
- gdT-cell: 3.4 nTPM
- naive CD8 T-cell: 2.7 nTPM
- memory CD8 T-cell: 2.3 nTPM
- basophil: 2 nTPM
Brain region
- choroid plexus: 36 nTPM
- thalamus: 33 nTPM
- cerebral cortex: 30 nTPM
- hypothalamus: 28 nTPM
- midbrain: 27 nTPM
- basal ganglia: 26 nTPM
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)
- 1.03
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.83
- DepMap mean gene effect
- -0.24
- DepMap dependency class
- selective
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
- N-acetylglucosamine metabolic process
- UDP-N-acetylgalactosamine metabolic process
Molecular functions
- glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity
- glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity
- glycosaminoglycan binding
- manganese ion binding
- alpha-1,4-N-acetylgalactosaminyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Glycosyl transferase 64 domain
- Nucleotide-diphospho-sugar transferases
- Glycosyl transferase family 64 domain
- Glycosyltransferase family GT2 and GT47
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads EXTL2 as an antibody target. Whether an autoantibody or antibody against EXTL2 could matter depends on whether native EXTL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
EXTL2 is annotated as secreted, so native EXTL2 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 EXTL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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