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Protein

Lens fiber membrane intrinsic protein

Gene

LIM2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Eye lens protein

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105370-MONOMER.

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

HGNCiHGNC:6610. LIM2.

Subcellular locationi

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

GO - Cellular componenti

  • cell junction Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: Ensembl
  • vesicle Source: Ensembl
Complete GO annotation...

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 rs121913555dbSNPEnsembl.1

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNETi3982.
MalaCardsiLIM2.
MIMi615277. phenotype.
OpenTargetsiENSG00000105370.
Orphaneti98984. Pulverulent 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)By similarity1
Glycosylationi61C-linked (Man)By similarity1
Glycosylationi62N-linked (GlcNAc...)Sequence analysis1
Modified residuei170PhosphoserineBy similarity1
Modified residuei171PhosphothreonineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PeptideAtlasiP55344.
PRIDEiP55344.

PTM databases

iPTMnetiP55344.
PhosphoSitePlusiP55344.

Expressioni

Tissue specificityi

Eye lens specific.1 Publication

Gene expression databases

BgeeiENSG00000105370.
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.
OMAiYCLGNKC.
OrthoDBiEOG091G0MCH.
PhylomeDBiP55344.
TreeFamiTF330587.

Family and domain databases

InterProiIPR003935. LMIP.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01457. LENSMEMPROT.
PROSITEiPS01222. PMP22_2. 1 hit.
[Graphical view]

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 rs121913555dbSNPEnsembl.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

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.

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.
GeneCardsiLIM2.
HGNCiHGNC:6610. LIM2.
MalaCardsiLIM2.
MIMi154045. gene.
615277. phenotype.
neXtProtiNX_P55344.
OpenTargetsiENSG00000105370.
Orphaneti98984. Pulverulent cataract.
PharmGKBiPA30384.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00510000046994.
HOGENOMiHOG000116021.
HOVERGENiHBG003671.
InParanoidiP55344.
OMAiYCLGNKC.
OrthoDBiEOG091G0MCH.
PhylomeDBiP55344.
TreeFamiTF330587.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000105370-MONOMER.

Miscellaneous databases

GeneWikiiLIM2.
GenomeRNAii3982.
PROiP55344.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105370.
CleanExiHS_LIM2.
GenevisibleiP55344. HS.

Family and domain databases

InterProiIPR003935. LMIP.
IPR004031. PMP22/EMP/MP20/Claudin.
IPR004032. PMP22_EMP_MP20.
[Graphical view]
PfamiPF00822. PMP22_Claudin. 1 hit.
[Graphical view]
PRINTSiPR01453. EPMEMFAMILY.
PR01457. LENSMEMPROT.
PROSITEiPS01222. PMP22_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiLMIP_HUMAN
AccessioniPrimary (citable) accession number: P55344
Secondary accession number(s): Q6B083, Q9BXD0, Q9HAR5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: December 5, 2001
Last modified: November 2, 2016
This is version 141 of the entry and version 2 of the sequence. [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. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.