LIM2 - lens intrinsic membrane protein 2 Gene

Also Known as MP17; MP19; CTRCT19

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3982

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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07656	LIM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS07669	LIMS2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20764	Lhx5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21366	Lhx2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	LIM2	NCBI