Seroatlas · Human Serome Atlas

EHMT2

Histone-lysine N-methyltransferase EHMT2

Also known as: BAT8, C6orf30, EHMT2_HUMAN, Em:AF134726.3, G9A, KMT1C, NG36/G9a

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

Protein identityUniProt · HPA

UniProt accession: Q96KQ7
Gene: EHMT2
Ensembl: ENSG00000204371
Chromosome: 6
Canonical length: 1210 aa
Protein class: Enzymes, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nuclear speckles

OverviewNCBI Gene

This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

1210 residues, UniProt reviewed canonical sequence.

>Q96KQ7|EHMT2
     1  MAAAAGAAAA AAAEGEAPAE MGALLLEKET RGATERVHGS LGDTPRSEET LPKATPDSLE
    61  PAGPSSPASV TVTVGDEGAD TPVGATPLIG DESENLEGDG DLRGGRILLG HATKSFPSSP
   121  SKGGSCPSRA KMSMTGAGKS PPSVQSLAMR LLSMPGAQGA AAAGSEPPPA TTSPEGQPKV
   181  HRARKTMSKP GNGQPPVPEK RPPEIQHFRM SDDVHSLGKV TSDLAKRRKL NSGGGLSEEL
   241  GSARRSGEVT LTKGDPGSLE EWETVVGDDF SLYYDSYSVD ERVDSDSKSE VEALTEQLSE
   301  EEEEEEEEEE EEEEEEEEEE EEEDEESGNQ SDRSGSSGRR KAKKKWRKDS PWVKPSRKRR
   361  KREPPRAKEP RGVNGVGSSG PSEYMEVPLG SLELPSEGTL SPNHAGVSND TSSLETERGF
   421  EELPLCSCRM EAPKIDRISE RAGHKCMATE SVDGELSGCN AAILKRETMR PSSRVALMVL
   481  CETHRARMVK HHCCPGCGYF CTAGTFLECH PDFRVAHRFH KACVSQLNGM VFCPHCGEDA
   541  SEAQEVTIPR GDGVTPPAGT AAPAPPPLSQ DVPGRADTSQ PSARMRGHGE PRRPPCDPLA
   601  DTIDSSGPSL TLPNGGCLSA VGLPLGPGRE ALEKALVIQE SERRKKLRFH PRQLYLSVKQ
   661  GELQKVILML LDNLDPNFQS DQQSKRTPLH AAAQKGSVEI CHVLLQAGAN INAVDKQQRT
   721  PLMEAVVNNH LEVARYMVQR GGCVYSKEED GSTCLHHAAK IGNLEMVSLL LSTGQVDVNA
   781  QDSGGWTPII WAAEHKHIEV IRMLLTRGAD VTLTDNEENI CLHWASFTGS AAIAEVLLNA
   841  RCDLHAVNYH GDTPLHIAAR ESYHDCVLLF LSRGANPELR NKEGDTAWDL TPERSDVWFA
   901  LQLNRKLRLG VGNRAIRTEK IICRDVARGY ENVPIPCVNG VDGEPCPEDY KYISENCETS
   961  TMNIDRNITH LQHCTCVDDC SSSNCLCGQL SIRCWYDKDG RLLQEFNKIE PPLIFECNQA
  1021  CSCWRNCKNR VVQSGIKVRL QLYRTAKMGW GVRALQTIPQ GTFICEYVGE LISDAEADVR
  1081  EDDSYLFDLD NKDGEVYCID ARYYGNISRF INHLCDPNII PVRVFMLHQD LRFPRIAFFS
  1141  SRDIRTGEEL GFDYGDRFWD IKSKYFTCQC GSEKCKHSAE AIALEQSRLA RLDPHPELLP
  1201  ELGSLPPVNT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EHMT2 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): 0.45
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

basal ganglia: 27 nTPM
cerebral cortex: 26 nTPM
cerebellum: 24 nTPM
endometrium: 19 nTPM
amygdala: 18 nTPM
hippocampal formation: 17 nTPM

Single-cell type

oligodendrocytes: 36 nCPM
astrocytes: 33 nCPM
brain inhibitory neurons: 32 nCPM
late spermatids: 31 nCPM
oligodendrocyte progenitor cells: 30 nCPM
brain excitatory neurons: 24 nCPM

Immune cell

memory CD4 T-cell: 0.4 nTPM
naive CD4 T-cell: 0.4 nTPM
naive CD8 T-cell: 0.4 nTPM
total PBMC: 0.4 nTPM
memory B-cell: 0.3 nTPM
memory CD8 T-cell: 0.3 nTPM

Brain region

midbrain: 1.4 nTPM
amygdala: 0.9 nTPM
basal ganglia: 0.9 nTPM
cerebral cortex: 0.9 nTPM
white matter: 0.9 nTPM
hypothalamus: 0.8 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EHMT2.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 179 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Kleefstra-like syndrome
EHMT2-related Kleefstra-like 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): 0.45
gnomAD pLI: 0
gnomAD missense Z: 3.71
DepMap mean gene effect: -0.3
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

C2H2 zinc finger domain binding
histone H3K27 methyltransferase activity
histone H3K9 methyltransferase activity
histone H3K9 monomethyltransferase activity
p53 binding
promoter-specific chromatin binding
protein-lysine N-methyltransferase activity
RNA polymerase II transcription regulatory region sequence-specific DNA binding
transcription corepressor binding
zinc ion binding
H1-4K26 methyltransferase activity
histone H3K56 methyltransferase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

SET domain
Ankyrin repeat
Pre-SET domain
Ankyrin repeat-containing domain superfamily
Histone-lysine N-methyltransferase EHMT1/EHMT2
SET domain superfamily
EHMT1/2, cysteine-rich region
Ankyrin repeat
SET domain
Pre-SET motif
Ankyrin repeats (3 copies)
Histone-lysine N-methyltransferase EHMT1/EHMT2, Cys-rich region
Histone-lysine N-methyltransferase EHMT2, SET domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EHMT2 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 EHMT2 as an antibody target. Whether an autoantibody or antibody against EHMT2 could matter depends on whether native EHMT2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EHMT2 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 EHMT2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...