Seroatlas · Human Serome Atlas

MTMR14

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14

Also known as: C3orf29, FLJ22405, FLJ90311, hEDTP, hJumpy, MTMRE_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q8NCE2
Gene
MTMR14
Ensembl
ENSG00000163719
Chromosome
3
Canonical length
650 aa
Protein class
Disease related genes, Metabolic proteins, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

Canonical amino-acid sequenceUniProt

650 residues, UniProt reviewed canonical sequence.

>Q8NCE2|MTMR14
     1  MAGARAAAAA ASAGSSASSG NQPPQELGLG ELLEEFSRTQ YRAKDGSGTG GSKVERIEKR
    61  CLELFGRDYC FSVIPNTNGD ICGHYPRHIV FLEYESSEKE KDTFESTVQV SKLQDLIHRS
   121  KMARCRGRFV CPVILFKGKH ICRSATLAGW GELYGRSGYN YFFSGGADDA WADVEDVTEE
   181  DCALRSGDTH LFDKVRGYDI KLLRYLSVKY ICDLMVENKK VKFGMNVTSS EKVDKAQRYA
   241  DFTLLSIPYP GCEFFKEYKD RDYMAEGLIF NWKQDYVDAP LSIPDFLTHS LNIDWSQYQC
   301  WDLVQQTQNY LKLLLSLVNS DDDSGLLVHC ISGWDRTPLF ISLLRLSLWA DGLIHTSLKP
   361  TEILYLTVAY DWFLFGHMLV DRLSKGEEIF FFCFNFLKHI TSEEFSALKT QRRKSLPARD
   421  GGFTLEDICM LRRKDRGSTT SLGSDFSLVM ESSPGATGSF TYEAVELVPA GAPTQAAWRK
   481  SHSSSPQSVL WNRPQPSEDR LPSQQGLAEA RSSSSSSSNH SDNFFRMGSS PLEVPKPRSV
   541  DHPLPGSSLS TDYGSWQMVT GCGSIQERAV LHTDSSLPFS FPDELPNSCL LAALSDRETR
   601  LQEVRSAFLA AYSSTVGLRA VAPSPSGAIG GLLEQFARGV GLRSISSNAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTMR14 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)
0.42
Highest tissue expression
53 nTPM

Expression across tissuesHPA

Tissue

  • bone marrow: 53 nTPM
  • choroid plexus: 44 nTPM
  • skeletal muscle: 43 nTPM
  • tonsil: 39 nTPM
  • lymph node: 35 nTPM
  • tongue: 33 nTPM

Single-cell type

  • neutrophils: 216 nCPM
  • neutrophil progenitors: 126 nCPM
  • oocytes: 124 nCPM
  • monocytes: 119 nCPM
  • kupffer cells: 95 nCPM
  • cdc: 91 nCPM

Immune cell

  • myeloid DC: 178 nTPM
  • intermediate monocyte: 148 nTPM
  • non-classical monocyte: 146 nTPM
  • classical monocyte: 140 nTPM
  • basophil: 117 nTPM
  • total PBMC: 114 nTPM

Brain region

  • choroid plexus: 47 nTPM
  • white matter: 25 nTPM
  • cerebral cortex: 22 nTPM
  • pons: 22 nTPM
  • medulla oblongata: 22 nTPM
  • thalamus: 22 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTMR14.

Disease | AllUniProt

Conditions MTMR14 is implicated in, by any mechanism.

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)
0.69
gnomAD pLI
0
gnomAD missense Z
0.3
DepMap mean gene effect
0.02
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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads MTMR14 as an antibody target. Whether an autoantibody or antibody against MTMR14 could matter depends on whether native MTMR14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

MTMR14 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 MTMR14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/MTMR14. 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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