LIM2
Lens fiber membrane intrinsic protein
Also known as: LMIP_HUMAN, MP17, MP19
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P55344
- Gene
- LIM2
- Ensembl
- ENSG00000105370
- Chromosome
- 19
- Canonical length
- 173 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted membrane proteins
OverviewNCBI Gene
This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Canonical amino-acid sequenceUniProt
173 residues, UniProt reviewed canonical sequence.
>P55344|LIM2
1 MYSFMGGGLF CAWVGTILLV VAMATDHWMQ YRLSGSFAHQ GLWRYCLGNK CYLQTDSIAY
61 WNATRAFMIL SALCAISGII MGIMAFAHQP TFSRISRPFS AGIMFFSSTL FVVLALAIYT
121 GVTVSFLGRR FGDWRFSWSY ILGWVAVLMT FFAGIFYMCA YRVHECRRLS TPRLocalizationUniProt · AlphaFold · HPA
Whether an antibody against LIM2 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 4
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 0.5 nTPM
Expression across tissuesHPA
Tissue
- bone marrow: 0.5 nTPM
- lung: 0.2 nTPM
- spleen: 0.2 nTPM
- testis: 0.2 nTPM
- duodenum: 0.1 nTPM
- adipose tissue: 0 nTPM
Single-cell type
- nk-cells: 4.7 nCPM
- neutrophils: 1.8 nCPM
- esophageal apical cells: 1.4 nCPM
- late primary spermatocytes: 1.4 nCPM
- early spermatids: 1.2 nCPM
- esophageal suprabasal cells: 0.7 nCPM
Immune cell
- gdT-cell: 11 nTPM
- total PBMC: 1.9 nTPM
- NK-cell: 1.5 nTPM
- MAIT T-cell: 1.4 nTPM
- naive CD8 T-cell: 1.3 nTPM
- memory CD8 T-cell: 0.3 nTPM
Brain region
- amygdala: 0 nTPM
- basal ganglia: 0 nTPM
- cerebellum: 0 nTPM
- cerebral cortex: 0 nTPM
- choroid plexus: 0 nTPM
- hippocampal formation: 0 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about LIM2.
Disease | AllUniProt
Conditions LIM2 is implicated in, by any mechanism.
- Cataract, multiple types 19 (CTRCT19) MIM:615277
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 113 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 19 multiple types
- Cataract
- LIM2-related disorder
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)
- 1.28
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.67
- DepMap mean gene effect
- 0.12
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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
- PMP-22/EMP/MP20/Claudin
- PMP-22/EMP/MP20
- Peripheral myelin protein 22/Epithelial membrane protein-like
- PMP-22/EMP/MP20/Claudin family
- Lens fibre membrane intrinsic protein
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads LIM2 as an antibody target. Whether an autoantibody or antibody against LIM2 could matter depends on whether native LIM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
LIM2 is annotated at the cell surface, where native LIM2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label LIM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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