Seroatlas · Human Serome Atlas

MBNL2

Muscleblind-like protein 2

Also known as: MBLL, MBLL39, MBNL2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q5VZF2
Gene
MBNL2
Ensembl
ENSG00000139793
Chromosome
13
Canonical length
373 aa
Protein class
Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene is a member of the muscleblind protein family which was initially described in Drosophila melanogaster. This gene encodes a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>Q5VZF2|MBNL2
     1  MALNVAPVRD TKWLTLEVCR QFQRGTCSRS DEECKFAHPP KSCQVENGRV IACFDSLKGR
    61  CSRENCKYLH PPTHLKTQLE INGRNNLIQQ KTAAAMLAQQ MQFMFPGTPL HPVPTFPVGP
   121  AIGTNTAISF APYLAPVTPG VGLVPTEILP TTPVIVPGSP PVTVPGSTAT QKLLRTDKLE
   181  VCREFQRGNC ARGETDCRFA HPADSTMIDT SDNTVTVCMD YIKGRCMREK CKYFHPPAHL
   241  QAKIKAAQHQ ANQAAVAAQA AAAAATVMAF PPGALHPLPK RQALEKSNGT SAVFNPSVLH
   301  YQQALTSAQL QQHAAFIPTG SVLCMTPATS IDNSEIISRN GMECQESALR ITKHCYCTYY
   361  PVSSSIELPQ TAC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MBNL2 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)
0.56
Highest tissue expression
90 nTPM

Expression across tissuesHPA

Tissue

  • liver: 90 nTPM
  • tongue: 83 nTPM
  • spinal cord: 65 nTPM
  • adrenal gland: 61 nTPM
  • adipose tissue: 61 nTPM
  • ovary: 54 nTPM

Single-cell type

  • pancreatic acinar cells: 1,251 nCPM
  • adrenal cortex cells: 912 nCPM
  • oligodendrocytes: 793 nCPM
  • rod photoreceptor cells: 664 nCPM
  • extravillous trophoblasts: 651 nCPM
  • thymic myoid cells: 612 nCPM

Immune cell

  • basophil: 28 nTPM
  • MAIT T-cell: 20 nTPM
  • eosinophil: 18 nTPM
  • memory B-cell: 18 nTPM
  • gdT-cell: 17 nTPM
  • naive B-cell: 17 nTPM

Brain region

  • white matter: 211 nTPM
  • basal ganglia: 144 nTPM
  • cerebellum: 138 nTPM
  • pons: 136 nTPM
  • medulla oblongata: 130 nTPM
  • midbrain: 126 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)
0.56
gnomAD pLI
0.26
gnomAD missense Z
2.79
DepMap mean gene effect
0.2
DepMap dependency class
none

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 MBNL2 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 MBNL2 as an antibody target. Whether an autoantibody or antibody against MBNL2 could matter depends on whether native MBNL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MBNL2 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 MBNL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MBNL2. 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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