Seroatlas · Human Serome Atlas

LEMD2

LEM domain-containing protein 2

Also known as: dJ482C21.1, LEM2, LEMD2_HUMAN, NET25

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

Protein identityUniProt · HPA

UniProt accession: Q8NC56
Gene: LEMD2
Ensembl: ENSG00000161904
Chromosome: 6
Canonical length: 503 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nuclear membrane

OverviewNCBI Gene

This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]

Canonical amino-acid sequenceUniProt

503 residues, UniProt reviewed canonical sequence.

>Q8NC56|LEMD2
     1  MAGLSDLELR RELQALGFQP GPITDTTRDV YRNKLRRLRG EARLRDEERL REEARPRGEE
    61  RLREEARLRE DAPLRARPAA ASPRAEPWLS QPASGSAYAT PGAYGDIRPS AASWVGSRGL
   121  AYPARPAQLR RRASVRGSSE EDEDARTPDR ATQGPGLAAR RWWAASPAPA RLPSSLLGPD
   181  PRPGLRATRA GPAGAARARP EVGRRLERWL SRLLLWASLG LLLVFLGILW VKMGKPSAPQ
   241  EAEDNMKLLP VDCERKTDEF CQAKQKAALL ELLHELYNFL AIQAGNFECG NPENLKSKCI
   301  PVMEAQEYIA NVTSSSSAKF EAALTWILSS NKDVGIWLKG EDQSELVTTV DKVVCLESAH
   361  PRMGVGCRLS RALLTAVTNV LIFFWCLAFL WGLLILLKYR WRKLEEEEQA MYEMVKKIID
   421  VVQDHYVDWE QDMERYPYVG ILHVRDSLIP PQSRRRMKRV WDRAVEFLAS NESRIQTESH
   481  RVAGEDMLVW RWTKPSSFSD SER

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LEMD2 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: 2
Mean surface accessibility (rSASA): 0.5
Highest tissue expression: 83 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 83 nTPM
spleen: 68 nTPM
bone marrow: 60 nTPM
pituitary gland: 56 nTPM
ovary: 53 nTPM
pancreas: 53 nTPM

Single-cell type

late spermatids: 57 nCPM
esophageal apical cells: 55 nCPM
retinal horizontal cells: 50 nCPM
extravillous trophoblasts: 49 nCPM
tuft cells: 46 nCPM
late primary spermatocytes: 46 nCPM

Immune cell

eosinophil: 3.2 nTPM
MAIT T-cell: 2.9 nTPM
plasmacytoid DC: 2.9 nTPM
T-reg: 2.8 nTPM
memory CD4 T-cell: 2.5 nTPM
naive CD8 T-cell: 2.4 nTPM

Brain region

white matter: 62 nTPM
cerebellum: 60 nTPM
medulla oblongata: 59 nTPM
cerebral cortex: 51 nTPM
basal ganglia: 49 nTPM
thalamus: 49 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LEMD2.

Disease | AllUniProt

Conditions LEMD2 is implicated in, by any mechanism.

Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy (CTRCT46) MIM:212500
Marbach-Rustad progeroid syndrome (MARUPS) MIM:619322

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 134 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Cataract 46 juvenile-onset

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): 0.41
gnomAD pLI: 0.75
gnomAD missense Z: 1.82
DepMap mean gene effect: -0.24
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LEMD2 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 LEMD2 as an antibody target. Whether an autoantibody or antibody against LEMD2 could matter depends on whether native LEMD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LEMD2 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 LEMD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...