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Protein

Lens fiber membrane intrinsic protein

Gene

LIM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.

GO - Molecular functioni

GO - Biological processi

  • cell-cell junction assembly Source: UniProtKB
  • lens development in camera-type eye Source: Ensembl

Keywordsi

Molecular functionEye lens protein

Names & Taxonomyi

Protein namesi
Recommended name:
Lens fiber membrane intrinsic protein
Alternative name(s):
MP18
MP19
MP20
Gene namesi
Name:LIM2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000105370.7
HGNCiHGNC:6610 LIM2
MIMi154045 gene
neXtProtiNX_P55344

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 3CytoplasmicSequence analysis3
Transmembranei4 – 24HelicalSequence analysisAdd BLAST21
Topological domaini25 – 66ExtracellularSequence analysisAdd BLAST42
Transmembranei67 – 87HelicalSequence analysisAdd BLAST21
Topological domaini88 – 98CytoplasmicSequence analysisAdd BLAST11
Transmembranei99 – 119HelicalSequence analysisAdd BLAST21
Topological domaini120 – 140ExtracellularSequence analysisAdd BLAST21
Transmembranei141 – 161HelicalSequence analysisAdd BLAST21
Topological domaini162 – 173CytoplasmicSequence analysisAdd BLAST12

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Cataract, multiple types 19 (CTRCT19)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function.
See also OMIM:615277
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069796105F → V in CTRCT19. 1 PublicationCorresponds to variant dbSNP:rs121913555Ensembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi3982
MalaCardsiLIM2
MIMi615277 phenotype
OpenTargetsiENSG00000105370
Orphaneti98994 Total early-onset cataract
PharmGKBiPA30384

Polymorphism and mutation databases

BioMutaiLIM2
DMDMi17433717

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001646641 – 173Lens fiber membrane intrinsic proteinAdd BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi43C-linked (Man) tryptophanBy similarity1
Glycosylationi61C-linked (Man) tryptophanBy similarity1
Glycosylationi62N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei170PhosphoserineBy similarity1
Modified residuei171PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PeptideAtlasiP55344
PRIDEiP55344
ProteomicsDBi56851
56852 [P55344-2]

PTM databases

iPTMnetiP55344
PhosphoSitePlusiP55344

Expressioni

Tissue specificityi

Eye lens specific.1 Publication

Gene expression databases

BgeeiENSG00000105370 Expressed in 14 organ(s), highest expression level in lens of camera-type eye
CleanExiHS_LIM2
GenevisibleiP55344 HS

Interactioni

Subunit structurei

Seems to be associated with itself or another lens membrane component via disulfide bonds.

Protein-protein interaction databases

BioGridi110170, 1 interactor

Structurei

3D structure databases

ProteinModelPortaliP55344
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PMP-22/EMP/MP20 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

GeneTreeiENSGT00510000046994
HOGENOMiHOG000116021
HOVERGENiHBG003671
InParanoidiP55344
OMAiRYCLGSK
OrthoDBiEOG091G0MCH
PhylomeDBiP55344
TreeFamiTF330587

Family and domain databases

InterProiView protein in InterPro
IPR003935 LMIP
IPR004031 PMP22/EMP/MP20/Claudin
IPR004032 PMP22_EMP_MP20
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01453 EPMEMFAMILY
PR01457 LENSMEMPROT
PROSITEiView protein in PROSITE
PS01222 PMP22_2, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: P55344-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MYSFMGGGLF CAWVGTILLV VAMATDHWMQ YRLSGSFAHQ GLWRYCLGNK
60 70 80 90 100
CYLQTDSIAY WNATRAFMIL SALCAISGII MGIMAFAHQP TFSRISRPFS
110 120 130 140 150
AGIMFFSSTL FVVLALAIYT GVTVSFLGRR FGDWRFSWSY ILGWVAVLMT
160 170
FFAGIFYMCA YRVHECRRLS TPR
Length:173
Mass (Da):19,674
Last modified:December 5, 2001 - v2
Checksum:i07DBA77184DA84AD
GO
Isoform 2 (identifier: P55344-2) [UniParc]FASTAAdd to basket
Also known as: MP19ins

The sequence of this isoform differs from the canonical sequence as follows:
     58-58: I → IGEPPGQGPGRAWGKSRADLGAQGHLYSRWRTLRLKEGKGATQ

Show »
Length:215
Mass (Da):24,188
Checksum:iC275E85D7F1BE2D3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti19L → V AA sequence (PubMed:2584203).Curated1
Sequence conflicti109T → S (PubMed:8137630).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069796105F → V in CTRCT19. 1 PublicationCorresponds to variant dbSNP:rs121913555Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00507358I → IGEPPGQGPGRAWGKSRADL GAQGHLYSRWRTLRLKEGKG ATQ in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04193 Genomic DNA No translation available.
AF305941 Genomic DNA Translation: AAG32328.1
AF340019 mRNA Translation: AAK26327.1
AF340020 mRNA Translation: AAK26328.1
CH471135 Genomic DNA Translation: EAW72010.1
BC069430 mRNA Translation: AAH69430.1
BC074916 mRNA Translation: AAH74916.1
BC074917 mRNA Translation: AAH74917.1
BC126139 mRNA Translation: AAI26140.1
CCDSiCCDS12831.1 [P55344-2]
CCDS59415.1 [P55344-1]
RefSeqiNP_001155220.1, NM_001161748.1 [P55344-1]
NP_085915.2, NM_030657.3 [P55344-2]
UniGeneiHs.162754

Genome annotation databases

EnsembliENST00000221973; ENSP00000221973; ENSG00000105370 [P55344-2]
ENST00000596399; ENSP00000472090; ENSG00000105370 [P55344-1]
GeneIDi3982
KEGGihsa:3982
UCSCiuc002pwl.3 human [P55344-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L04193 Genomic DNA No translation available.
AF305941 Genomic DNA Translation: AAG32328.1
AF340019 mRNA Translation: AAK26327.1
AF340020 mRNA Translation: AAK26328.1
CH471135 Genomic DNA Translation: EAW72010.1
BC069430 mRNA Translation: AAH69430.1
BC074916 mRNA Translation: AAH74916.1
BC074917 mRNA Translation: AAH74917.1
BC126139 mRNA Translation: AAI26140.1
CCDSiCCDS12831.1 [P55344-2]
CCDS59415.1 [P55344-1]
RefSeqiNP_001155220.1, NM_001161748.1 [P55344-1]
NP_085915.2, NM_030657.3 [P55344-2]
UniGeneiHs.162754

3D structure databases

ProteinModelPortaliP55344
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110170, 1 interactor

PTM databases

iPTMnetiP55344
PhosphoSitePlusiP55344

Polymorphism and mutation databases

BioMutaiLIM2
DMDMi17433717

Proteomic databases

PeptideAtlasiP55344
PRIDEiP55344
ProteomicsDBi56851
56852 [P55344-2]

Protocols and materials databases

DNASUi3982
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000221973; ENSP00000221973; ENSG00000105370 [P55344-2]
ENST00000596399; ENSP00000472090; ENSG00000105370 [P55344-1]
GeneIDi3982
KEGGihsa:3982
UCSCiuc002pwl.3 human [P55344-1]

Organism-specific databases

CTDi3982
DisGeNETi3982
EuPathDBiHostDB:ENSG00000105370.7
GeneCardsiLIM2
HGNCiHGNC:6610 LIM2
MalaCardsiLIM2
MIMi154045 gene
615277 phenotype
neXtProtiNX_P55344
OpenTargetsiENSG00000105370
Orphaneti98994 Total early-onset cataract
PharmGKBiPA30384
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00510000046994
HOGENOMiHOG000116021
HOVERGENiHBG003671
InParanoidiP55344
OMAiRYCLGSK
OrthoDBiEOG091G0MCH
PhylomeDBiP55344
TreeFamiTF330587

Miscellaneous databases

GeneWikiiLIM2
GenomeRNAii3982
PROiPR:P55344
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105370 Expressed in 14 organ(s), highest expression level in lens of camera-type eye
CleanExiHS_LIM2
GenevisibleiP55344 HS

Family and domain databases

InterProiView protein in InterPro
IPR003935 LMIP
IPR004031 PMP22/EMP/MP20/Claudin
IPR004032 PMP22_EMP_MP20
PfamiView protein in Pfam
PF00822 PMP22_Claudin, 1 hit
PRINTSiPR01453 EPMEMFAMILY
PR01457 LENSMEMPROT
PROSITEiView protein in PROSITE
PS01222 PMP22_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiLMIP_HUMAN
AccessioniPrimary (citable) accession number: P55344
Secondary accession number(s): Q6B083, Q9BXD0, Q9HAR5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 5, 2001
Last modified: November 7, 2018
This is version 148 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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