Seroatlas · Human Serome Atlas

EZH2

Histone-lysine N-methyltransferase EZH2

Also known as: ENX-1, EZH1, EZH2_HUMAN, KMT6, KMT6A

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

Protein identityUniProt · HPA

UniProt accession
Q15910
Gene
EZH2
Ensembl
ENSG00000106462
Chromosome
7
Canonical length
746 aa
Protein class
Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011]

Canonical amino-acid sequenceUniProt

746 residues, UniProt reviewed canonical sequence.

>Q15910|EZH2
     1  MGQTGKKSEK GPVCWRKRVK SEYMRLRQLK RFRRADEVKS MFSSNRQKIL ERTEILNQEW
    61  KQRRIQPVHI LTSVSSLRGT RECSVTSDLD FPTQVIPLKT LNAVASVPIM YSWSPLQQNF
   121  MVEDETVLHN IPYMGDEVLD QDGTFIEELI KNYDGKVHGD RECGFINDEI FVELVNALGQ
   181  YNDDDDDDDG DDPEEREEKQ KDLEDHRDDK ESRPPRKFPS DKIFEAISSM FPDKGTAEEL
   241  KEKYKELTEQ QLPGALPPEC TPNIDGPNAK SVQREQSLHS FHTLFCRRCF KYDCFLHPFH
   301  ATPNTYKRKN TETALDNKPC GPQCYQHLEG AKEFAAALTA ERIKTPPKRP GGRRRGRLPN
   361  NSSRPSTPTI NVLESKDTDS DREAGTETGG ENNDKEEEEK KDETSSSSEA NSRCQTPIKM
   421  KPNIEPPENV EWSGAEASMF RVLIGTYYDN FCAIARLIGT KTCRQVYEFR VKESSIIAPA
   481  PAEDVDTPPR KKKRKHRLWA AHCRKIQLKK DGSSNHVYNY QPCDHPRQPC DSSCPCVIAQ
   541  NFCEKFCQCS SECQNRFPGC RCKAQCNTKQ CPCYLAVREC DPDLCLTCGA ADHWDSKNVS
   601  CKNCSIQRGS KKHLLLAPSD VAGWGIFIKD PVQKNEFISE YCGEIISQDE ADRRGKVYDK
   661  YMCSFLFNLN NDFVVDATRK GNKIRFANHS VNPNCYAKVM MVNGDHRIGI FAKRAIQTGE
   721  ELFFDYRYSQ ADALKYVGIE REMEIP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EZH2 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.4
Highest tissue expression
34 nTPM

Expression across tissuesHPA

Tissue

  • thymus: 34 nTPM
  • testis: 25 nTPM
  • bone marrow: 24 nTPM
  • lymph node: 18 nTPM
  • tonsil: 17 nTPM
  • appendix: 8.2 nTPM

Single-cell type

  • monocyte progenitors: 269 nCPM
  • erythrocyte progenitors: 263 nCPM
  • neutrophil progenitors: 246 nCPM
  • late primary spermatocytes: 222 nCPM
  • respiratory deuterosomal cells: 180 nCPM
  • megakaryocyte progenitors: 167 nCPM

Immune cell

  • T-reg: 7.7 nTPM
  • NK-cell: 6.6 nTPM
  • non-classical monocyte: 3.4 nTPM
  • myeloid DC: 3.2 nTPM
  • memory CD4 T-cell: 2.1 nTPM
  • memory CD8 T-cell: 1.8 nTPM

Brain region

  • cerebellum: 0.7 nTPM
  • thalamus: 0.5 nTPM
  • cerebral cortex: 0.4 nTPM
  • white matter: 0.4 nTPM
  • choroid plexus: 0.3 nTPM
  • hippocampal formation: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EZH2.

Disease | AllUniProt

Conditions EZH2 is implicated in, by any mechanism.

Disease | GeneticClinVar

39 pathogenic / likely-pathogenic of 729 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on EZH2 was assayed in.

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)
0.15
gnomAD pLI
1
gnomAD missense Z
4.68
DepMap mean gene effect
-0.09
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% 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 EZH2 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 EZH2 as an antibody target. Whether an autoantibody or antibody against EZH2 could matter depends on whether native EZH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EZH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label EZH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EZH2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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