Seroatlas · Human Serome Atlas

MTMR2

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2

Also known as: CMT4B, KIAA1073, MTMR2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q13614
Gene
MTMR2
Ensembl
ENSG00000087053
Chromosome
11
Canonical length
643 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Vesicles
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Canonical amino-acid sequenceUniProt

643 residues, UniProt reviewed canonical sequence.

>Q13614|MTMR2
     1  MEKSSSCESL GSQPAAARPP SVDSLSSAST SHSENSVHTK SASVVSSDSI STSADNFSPD
    61  LRVLRESNKL AEMEEPPLLP GENIKDMAKD VTYICPFTGA VRGTLTVTNY RLYFKSMERD
   121  PPFVLDASLG VINRVEKIGG ASSRGENSYG LETVCKDIRN LRFAHKPEGR TRRSIFENLM
   181  KYAFPVSNNL PLFAFEYKEV FPENGWKLYD PLLEYRRQGI PNESWRITKI NERYELCDTY
   241  PALLVVPANI PDEELKRVAS FRSRGRIPVL SWIHPESQAT ITRCSQPMVG VSGKRSKEDE
   301  KYLQAIMDSN AQSHKIFIFD ARPSVNAVAN KAKGGGYESE DAYQNAELVF LDIHNIHVMR
   361  ESLRKLKEIV YPNIEETHWL SNLESTHWLE HIKLILAGAL RIADKVESGK TSVVVHCSDG
   421  WDRTAQLTSL AMLMLDGYYR TIRGFEVLVE KEWLSFGHRF QLRVGHGDKN HADADRSPVF
   481  LQFIDCVWQM TRQFPTAFEF NEYFLITILD HLYSCLFGTF LCNSEQQRGK ENLPKRTVSL
   541  WSYINSQLED FTNPLYGSYS NHVLYPVASM RHLELWVGYY IRWNPRMKPQ EPIHNRYKEL
   601  LAKRAELQKK VEELQREISN RSTSSSERAS SPAQCVTPVQ TVV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTMR2 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
29 nTPM

Expression across tissuesHPA

Tissue

  • testis: 29 nTPM
  • placenta: 23 nTPM
  • spinal cord: 20 nTPM
  • salivary gland: 19 nTPM
  • blood vessel: 17 nTPM
  • retina: 17 nTPM

Single-cell type

  • oligodendrocytes: 259 nCPM
  • late spermatids: 218 nCPM
  • cardiomyocytes: 153 nCPM
  • lacrimal acinar cells: 140 nCPM
  • epicardial cells: 136 nCPM
  • late primary spermatocytes: 114 nCPM

Immune cell

  • memory CD8 T-cell: 16 nTPM
  • NK-cell: 14 nTPM
  • MAIT T-cell: 13 nTPM
  • gdT-cell: 12 nTPM
  • naive CD8 T-cell: 11 nTPM
  • basophil: 9.8 nTPM

Brain region

  • white matter: 41 nTPM
  • basal ganglia: 30 nTPM
  • cerebellum: 30 nTPM
  • pons: 29 nTPM
  • medulla oblongata: 28 nTPM
  • cerebral cortex: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTMR2.

Disease | AllUniProt

Conditions MTMR2 is implicated in, by any mechanism.

  • Charcot-Marie-Tooth disease, demyelinating, type 4B1 (CMT4B1) MIM:601382

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 676 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)
0.65
gnomAD pLI
0
gnomAD missense Z
1.22
DepMap mean gene effect
0.07
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 MTMR2 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 MTMR2 as an antibody target. Whether an autoantibody or antibody against MTMR2 could matter depends on whether native MTMR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTMR2 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 MTMR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MTMR2. 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).

© 2026 · Seroatlas, Discover Oregon LLC · Terms of use

Loading the interactive Seroatlas protein explorer...