ENSG00000161904


Homo sapiens

Features
Gene ID: ENSG00000161904
  
Biological name :LEMD2
  
Synonyms : LEMD2 / LEM domain containing 2 / Q8NC56
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: -1
Band: p21.31
Gene start: 33771202
Gene end: 33789136
  
Corresponding Affymetrix probe sets: 224980_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000421112
Ensembl peptide - ENSP00000478539
Ensembl peptide - ENSP00000423715
Ensembl peptide - ENSP00000423619
Ensembl peptide - ENSP00000421704
Ensembl peptide - ENSP00000293760
Ensembl peptide - ENSP00000398733
Ensembl peptide - ENSP00000408524
NCBI entrez gene - 221496     See in Manteia.
OMIM - 616312
RefSeq - NM_181336
RefSeq - NM_001348710
RefSeq - NM_001143944
RefSeq - NM_001348709
RefSeq Peptide - NP_851853
RefSeq Peptide - NP_001137416
RefSeq Peptide - NP_001335638
RefSeq Peptide - NP_001335639
swissprot - Q8NC56
swissprot - D6R958
swissprot - A0A024RCZ1
swissprot - H0Y8H8
swissprot - H0Y9B7
swissprot - H7C2Z0
swissprot - D6RBV0
Ensembl - ENSG00000161904
  
Related genetic diseases (OMIM): 212500 - Cataract 46, juvenile-onset, 212500
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
 LEMD2ENSGALG00000002870Gallus gallus
 Lemd2ENSMUSG00000044857Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LEMD3 / Q9Y2U8 / LEM domain containing 3ENSG0000017410630


Protein motifs (from Interpro)
Interpro ID Name
 IPR003887  LEM domain
 IPR011015  LEM/LEM-like domain superfamily
 IPR018996  Man1-Src1p-C-terminal domain
 IPR034994  LEM domain-containing protein 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006998 nuclear envelope organization IMP
 biological_processGO:0022008 neurogenesis IEA
 biological_processGO:0030514 negative regulation of BMP signaling pathway IBA
 biological_processGO:0035914 skeletal muscle cell differentiation IGI
 biological_processGO:0043409 negative regulation of MAPK cascade IEA
 biological_processGO:0051898 negative regulation of protein kinase B signaling IEA
 biological_processGO:0060914 heart formation IEA
 biological_processGO:0070197 meiotic attachment of telomere to nuclear envelope IBA
 biological_processGO:0071168 protein localization to chromatin IMP
 biological_processGO:1902531 regulation of intracellular signal transduction IEA
 cellular_componentGO:0000785 chromatin IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IDA
 cellular_componentGO:0005637 nuclear inner membrane TAS
 cellular_componentGO:0005639 integral component of nuclear inner membrane IDA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane TAS
 cellular_componentGO:0031965 nuclear membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0031490 chromatin DNA binding IBA


Pathways (from Reactome)
Pathway description
Clearance of Nuclear Envelope Membranes from Chromatin
Initiation of Nuclear Envelope Reformation
Depolymerisation of the Nuclear Lamina


Phenotype (from MGI, Zfin or HPO)
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]
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 HP:0000519 Congenital cataract "A congenital `cataract` (HP:0000518)." [HPO:probinson]
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 HP:0001118 Juvenile cataracts 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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