Seroatlas · Human Serome Atlas

EPM2A

Laforin, isoform 9

Also known as: EP2A2_HUMAN

Cross-references: UniProt · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: B3EWF7
Gene: EPM2A
Canonical length: 344 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

No narrative summary is available for EPM2A in this catalog release; identity and structured annotations are shown without generated factual claims.

Canonical amino-acid sequenceUniProt

344 residues, UniProt reviewed canonical sequence.

>B3EWF7|EPM2A
     1  MHPKEGAEQH VFSPVPGAPT PPPNRCGRLV LGPRLPAAGT PGPGIRAAAA RHALPLWGGG
    61  ATRRGRRPAG AAGGGVAARA GALGAARCRP PEAGRHRGGR RGPGPAGAGP VARGGGAGGR
   121  GGGAGRGGAG PRGHVLVQVP EAGAGRRALL GRYCQQTPAP GAERELRPAP PTGASASGRP
   181  RRPRRRASRA FCPRPCALPG RPGLTLLCRP RCRRQPRLRL PTDSLDPYSA PGRLPAHSVA
   241  CPSDLVSAHP VLSFFPTAPA SRASALRLPP GAPFALRVPL DLRVPPFAGP LAARPRAADG
   301  FNSPTPPWLG FVSSFSCSNS LKKTQNDPTN ETSVFANPRQ QCAT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EPM2A 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): 0.75
Highest tissue expression: 74 nTPM

Expression across tissuesHPA

Tissue

tongue: 74 nTPM
skeletal muscle: 72 nTPM
heart muscle: 23 nTPM
spinal cord: 22 nTPM
midbrain: 19 nTPM
colon: 16 nTPM

Single-cell type

tuft cells: 761 nCPM
myonuclei: 294 nCPM
retinal horizontal cells: 238 nCPM
astrocytes: 148 nCPM
adipocytes: 124 nCPM
ependymal cells: 121 nCPM

Immune cell

NK-cell: 2 nTPM
naive CD8 T-cell: 0.9 nTPM
intermediate monocyte: 0.5 nTPM
MAIT T-cell: 0.4 nTPM
memory B-cell: 0.4 nTPM
memory CD4 T-cell: 0.4 nTPM

Brain region

white matter: 27 nTPM
cerebral cortex: 27 nTPM
hypothalamus: 27 nTPM
medulla oblongata: 25 nTPM
midbrain: 25 nTPM
thalamus: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EPM2A.

Disease | GeneticClinVar

58 pathogenic / likely-pathogenic of 493 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): 1.34
gnomAD pLI: 0
gnomAD missense Z: -0.26
DepMap mean gene effect: -0.04
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

nucleus

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EPM2A 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 EPM2A as an antibody target. Whether an autoantibody or antibody against EPM2A could matter depends on whether native EPM2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EPM2A 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 EPM2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...