LIM2 - lens intrinsic membrane protein 2 Gene

Homo sapiens

Also known as MP17; MP19; CTRCT19

Gene ID: 3982 | Gene type: protein coding

About LIM2

Cytogenetic location: 19q13.41 Genomic coordinates (GRCh38): 19:51,379,909-51,387,974 (from NCBI)

This gene has 2 transcripts (splice variants), 244 orthologues, 10 paralogues and is associated with 3 phenotypes. Low expression observed in reference dataset.

Summary

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]

LIM2 Products(2)

mRNA	Protein	Name
NM_001161748.2	NP_001155220.1	lens fiber membrane intrinsic protein isoform 2
NM_030657.4	NP_085915.2	lens fiber membrane intrinsic protein isoform 1

LIM2 Protein Structure

PMP22_Claudin

0
100
173 a.a.

Protein Preferred Names

Protein Names

lens fiber membrane intrinsic protein

MP18

Related Diseases

Diseases

Alias

Cataract 19, Multiple Types

CTRCT19	Cataract 19 Multiple Types
Cataract, Multiple Types 19	Cataract 19

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Cataract 44

CTRCT44	Total Early-Onset Cataract
Cataract 44 And Hypotrichosis	Cataract And Hypotrichosis
Cataract, Type 44

Retinitis Pigmentosa 50

RP50	Retinitis Pigmentosa, Concentric
Retinitis Pigmentosa-50	Retinitis Pigmentosa Concentric

Scapuloperoneal Myopathy

Myopathy, X-Linked, With Postural Muscle Atrophy

Emery-Dreifuss Muscular Dystrophy 6, X-Linked	XMPMA
X-Linked Myopathy With Postural Muscle Atrophy	X-Linked Emery-Dreifuss Muscular Dystrophy 6
EDMD6	Emd6

Galactosemia Ii

Galactokinase Deficiency	Galk Deficiency
Galactokinase Deficiency With Cataracts	Deficiency Of Galactokinase
GALAC2	Galk-D
Galactokinase Deficiency Galactosemia	Galactosemia 2
Galactosemia Type 2	Hereditary Galactokinase Deficiency
Galactokinase Deficiency, Cataract	Galactosemias
Galk - [Galactokinase Deficiency]

Deafness, Autosomal Dominant 7

DFNA7	Autosomal Dominant Nonsyndromic Deafness 7
Autosomal Dominant Deafness 7	Deafness, Autosomal Dominant, 7
Deafness, Autosomal Dominant, Type 7

Cataract 28

CTRCT28	Cataract, Age-Related Cortical, 1
Arcc1	Cataract 28, Age-Related Cortical, Susceptibility To
Cataract 28, Age-Related Cortical	Age-Related Cortical Cataract 1

Alzheimer Disease 8

Ad8	Alzheimer'S Disease 8
Alzheimer Disease, Familial, 8	Alzheimer Disease, Familial 8
Alzheimer'S Disease 8, Late Onset

Axenfeld-Rieger Syndrome, Type 3

Axenfeld-Rieger Syndrome Type 3	RIEG3
Anterior Chamber Cleavage Syndrome	Anterior Segment Mesenchymal Dysgenesis
Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss	Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss
Rieger Syndrome Type 3	Axenfeld-Rieger Anomaly
Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome 3
Axenfeld Anomaly	Rieger Anomaly
Rieger Syndrome	Rieger Eye Malformation Sequence

Nance-Horan Syndrome

NHS	Cataract-Dental Syndrome
Cataract, X-Linked, With Hutchinsonian Teeth	Mesiodens-Cataract Syndrome
Cataract X-Linked With Hutchinsonian Teeth	Cataract Dental Syndrome
Mesiodens Cataract Syndrome

Presbyopia

Subnormal Accommodation

Accommodation Insufficiency Of Old Age

Amblyopia

Lazy Eye

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07656	LIM2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS07669	LIMS2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LIM2	VGNC	VGNC:68051
Canis familiaris	LIM2	VGNC	VGNC:42676
Bos taurus	LIM2	VGNC	VGNC:30885
Mus musculus	LIM2	MGD	MGI:104698
Rattus norvegicus	LIM2	RGD	RGD:621482

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