Seroatlas · Human Serome Atlas

L3MBTL2

Lethal(3)malignant brain tumor-like protein 2

Also known as: dJ756G23.3, DKFZP761I141, H-l(3)mbt-l, LMBL2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q969R5
Gene
L3MBTL2
Ensembl
ENSG00000100395
Chromosome
22
Canonical length
705 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

Enables methylated histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including ectoderm development; stem cell differentiation; and stem cell proliferation. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

705 residues, UniProt reviewed canonical sequence.

>Q969R5|L3MBTL2
     1  MEKPRSIEET PSSEPMEEEE DDDLELFGGY DSFRSYNSSV GSESSSYLEE SSEAENEDRE
    61  AGELPTSPLH LLSPGTPRSL DGSGSEPAVC EMCGIVGTRE AFFSKTKRFC SVSCSRSYSS
   121  NSKKASILAR LQGKPPTKKA KVLHKAAWSA KIGAFLHSQG TGQLADGTPT GQDALVLGFD
   181  WGKFLKDHSY KAAPVSCFKH VPLYDQWEDV MKGMKVEVLN SDAVLPSRVY WIASVIQTAG
   241  YRVLLRYEGF ENDASHDFWC NLGTVDVHPI GWCAINSKIL VPPRTIHAKF TDWKGYLMKR
   301  LVGSRTLPVD FHIKMVESMK YPFRQGMRLE VVDKSQVSRT RMAVVDTVIG GRLRLLYEDG
   361  DSDDDFWCHM WSPLIHPVGW SRRVGHGIKM SERRSDMAHH PTFRKIYCDA VPYLFKKVRA
   421  VYTEGGWFEE GMKLEAIDPL NLGNICVATV CKVLLDGYLM ICVDGGPSTD GLDWFCYHAS
   481  SHAIFPATFC QKNDIELTPP KGYEAQTFNW ENYLEKTKSK AAPSRLFNMD CPNHGFKVGM
   541  KLEAVDLMEP RLICVATVKR VVHRLLSIHF DGWDSEYDQW VDCESPDIYP VGWCELTGYQ
   601  LQPPVAAEPA TPLKAKEATK KKKKQFGKKR KRIPPTKTRP LRQGSKKPLL EDDPQGARKI
   661  SSEPVPGEII AVRVKEEHLD VASPDKASSP ELPVSVENIK QETDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against L3MBTL2 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)
0.39
Highest tissue expression
20 nTPM

Expression across tissuesHPA

Tissue

  • cerebral cortex: 20 nTPM
  • cerebellum: 18 nTPM
  • fallopian tube: 18 nTPM
  • pituitary gland: 17 nTPM
  • liver: 17 nTPM
  • tonsil: 17 nTPM

Single-cell type

  • late spermatids: 51 nCPM
  • respiratory ciliated cells: 36 nCPM
  • cardiomyocytes: 33 nCPM
  • fallopian tube ciliated cells: 32 nCPM
  • megakaryocytes: 31 nCPM
  • corticotrophs: 29 nCPM

Immune cell

  • total PBMC: 22 nTPM
  • gdT-cell: 22 nTPM
  • NK-cell: 21 nTPM
  • naive CD4 T-cell: 20 nTPM
  • MAIT T-cell: 20 nTPM
  • naive CD8 T-cell: 19 nTPM

Brain region

  • white matter: 39 nTPM
  • pons: 26 nTPM
  • cerebral cortex: 25 nTPM
  • thalamus: 25 nTPM
  • midbrain: 25 nTPM
  • medulla oblongata: 24 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about L3MBTL2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 101 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.72
gnomAD pLI
0
gnomAD missense Z
1.92
DepMap mean gene effect
-0.03
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of L3MBTL2 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 L3MBTL2 as an antibody target. Whether an autoantibody or antibody against L3MBTL2 could matter depends on whether native L3MBTL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

L3MBTL2 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 L3MBTL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/L3MBTL2. 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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