Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
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

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)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 33CytoplasmicSequence analysis
Transmembranei4 – 2421HelicalSequence analysisAdd
BLAST
Topological domaini25 – 6642ExtracellularSequence analysisAdd
BLAST
Transmembranei67 – 8721HelicalSequence analysisAdd
BLAST
Topological domaini88 – 9811CytoplasmicSequence analysisAdd
BLAST
Transmembranei99 – 11921HelicalSequence analysisAdd
BLAST
Topological domaini120 – 14021ExtracellularSequence analysisAdd
BLAST
Transmembranei141 – 16121HelicalSequence analysisAdd
BLAST
Topological domaini162 – 17312CytoplasmicSequence analysisAdd
BLAST

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 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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051F → V in CTRCT19. 1 Publication
VAR_069796

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MalaCardsiLIM2.
MIMi615277. phenotype.
Orphaneti98984. Pulverulent cataract.
PharmGKBiPA30384.

Polymorphism and mutation databases

BioMutaiLIM2.
DMDMi17433717.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 173173Lens fiber membrane intrinsic proteinPRO_0000164664Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi43 – 431C-linked (Man)By similarity
Glycosylationi61 – 611C-linked (Man)By similarity
Glycosylationi62 – 621N-linked (GlcNAc...)Sequence analysis
Modified residuei170 – 1701PhosphoserineBy similarity
Modified residuei171 – 1711PhosphothreonineBy similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

PRIDEiP55344.

PTM databases

iPTMnetiP55344.
PhosphoSiteiP55344.

Expressioni

Tissue specificityi

Eye lens specific.1 Publication

Gene expression databases

BgeeiP55344.
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 interaction.

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.
OrthoDBiEOG7Z69DM.
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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 191L → V AA sequence (PubMed:2584203).Curated
Sequence conflicti109 – 1091T → S (PubMed:8137630).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti105 – 1051F → V in CTRCT19. 1 Publication
VAR_069796

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei58 – 581I → IGEPPGQGPGRAWGKSRADL GAQGHLYSRWRTLRLKEGKG ATQ in isoform 2. 2 PublicationsVSP_005073

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 interaction.

PTM databases

iPTMnetiP55344.
PhosphoSiteiP55344.

Polymorphism and mutation databases

BioMutaiLIM2.
DMDMi17433717.

Proteomic databases

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

Phylogenomic databases

GeneTreeiENSGT00510000046994.
HOGENOMiHOG000116021.
HOVERGENiHBG003671.
InParanoidiP55344.
OMAiYCLGNKC.
OrthoDBiEOG7Z69DM.
PhylomeDBiP55344.
TreeFamiTF330587.

Miscellaneous databases

GeneWikiiLIM2.
GenomeRNAii3982.
PROiP55344.
SOURCEiSearch...

Gene expression databases

BgeeiP55344.
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...

Publicationsi

« Hide 'large scale' publications
  1. "The human lens fiber-cell intrinsic membrane protein MP19 gene: isolation and sequence analysis."
    Church R.L., Wang J.H.
    Curr. Eye Res. 12:1057-1065(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
    Tissue: Lens.
  2. "Human chromosome 19q13.4 DNA sequence, including complete sequence for LIM2 and NKG7."
    Church R.L., Li X.L., Wang J.H.
    Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
  3. "Expressed sequence tag analysis of adult human lens for the NEIBank project: over 2000 non-redundant transcripts, novel genes and splice variants."
    Wistow G., Bernstein S.L., Wyatt M.K., Behal A., Touchman J.W., Bouffard G., Smith D., Peterson K.
    Mol. Vis. 8:171-184(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
    Tissue: Lens.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  6. "Identification of an 18,000-dalton protein in mammalian lens fiber cell membranes."
    Louis C.F., Hur K.C., Galvan A.C., Tenbroek E.M., Jarvis L.J., Eccleston E.D., Howard J.B.
    J. Biol. Chem. 264:19967-19973(1989) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 1-20.
    Tissue: Lens.
  7. "A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family."
    Pras E., Levy-Nissenbaum E., Bakhan T., Lahat H., Assia E., Geffen-Carmi N., Frydman M., Goldman B., Pras E.
    Am. J. Hum. Genet. 70:1363-1367(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CTRCT19 VAL-105.

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: June 8, 2016
This is version 137 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.