ENSG00000105370


Homo sapiens
membraneLIM2lenseyepmp-empmpsuperfamilydevelopmentcamera-typejunctionfibreintrinsicproteinclaudinmeti-likecell-cellassemblyplasmaintegralcomponentcellvesiclestructuralconstituentautosomalrecessiveinheritancenystagmuscataractscortical

Features
Gene ID: ENSG00000105370
  
Biological name :LIM2
  
Synonyms : lens intrinsic membrane protein 2 / LIM2 / P55344
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.41
Gene start: 51379909
Gene end: 51387960
  
Corresponding Affymetrix probe sets: 220519_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000221973
Ensembl peptide - ENSP00000472090
NCBI entrez gene - 3982     See in Manteia.
OMIM - 154045
RefSeq - NM_001161748
RefSeq - NM_030657
RefSeq Peptide - NP_001155220
RefSeq Peptide - NP_085915
swissprot - P55344
Ensembl - ENSG00000105370
  
Related genetic diseases (OMIM): 615277 - Cataract 19, multiple types, 615277
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lim2.4ENSDARG00000015445Danio rerio
 lim2.5ENSDARG00000041295Danio rerio
 Lim2ENSMUSG00000093639Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003935  Lens fibre membrane intrinsic protein
 IPR004031  PMP-22/EMP/MP20/Claudin superfamily
 IPR004032  PMP-22/EMP/MP20
 IPR035906  MetI-like superfamily


Gene Ontology (GO)
anatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentcellular component organizationcellular component biogenesisanatomical structure developmentanatomical structure developmentcellular component organizationcellular component organizationcellular component biogenesiscellular component biogenesis
structural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lensstructural constituent of eye lens
cellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellmembranecell junctionorganellecellcellmembranemembranecell junctioncell junctionorganelleorganelle
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0007043 cell-cell junction assembly NAS
 biological_processGO:0043010 camera-type eye development IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction NAS
 cellular_componentGO:0031982 vesicle IEA
 molecular_functionGO:0005212 structural constituent of eye lens IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAbnormality of the eyesAutosomal recessive inheritanceAutosomal recessive inheritanceAbnormality of the eyesAbnormality of the eyes
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000639 Nystagmus "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators]
Show

 HP:0007780 Cataracts, cortical pulverulent, juvenile-onset 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2025
contact: otassy@igbmc.fr