Homo sapiens Gene: LEMD3

Summary
InnateDB Gene IDBG-45263.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol LEMD3
Gene Name LEM domain containing 3
Synonyms MAN1
Species Homo sapiens
Ensembl Gene ENSG00000174106
Encoded Proteins
IDBP-45265 LEM domain containing 3
Entrez Gene
Summary This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 12: 65563351-65642107
Strand Forward strand
Band q14.3
Transcripts
ENST00000308330  ENSP00000308369
ENST00000541171 
ENST00000542032 
ENST00000544506 
ENST00000539442 
ENST00000545026 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 12 [view]
Protein‑Protein  12
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0000166 nucleotide binding
GO:0003677 DNA binding
GO:0005515 protein binding
Biological Process
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway
GO:0030514 negative regulation of BMP signaling pathway
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0035914 skeletal muscle cell differentiation
GO:0051726 regulation of cell cycle
Cellular Component
GO:0005635 nuclear envelope
GO:0005637 nuclear inner membrane
GO:0005639 integral to nuclear inner membrane
GO:0016020 membrane
GO:0016021 integral to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000048661 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000039435 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
REACT_160251 Clearance of Nuclear Envelope Membranes from Chromatin
REACT_160242 Initiation of Nuclear Envelope Reformation
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9Y2U8 
TrEMBL B4DI45
UniProt Splice Variant
Entrez Gene 23592 
UniGene Hs.505905 Hs.600518 Hs.607662 Hs.743877
RefSeq NM_001167614  NM_014319 
HUGO 28887 
OMIM 607844
CCDS CCDS8972 
HPRD 09704
IMGT
EMBL AF112299 AF180135 AF180136 AF180137 AF180138 AF180139 AF180140 AF180141 AF180142 AF263918 AK295406 AL137533
GenPept AAD31593  AAF73293  BAG58357  CAB70796 
ImmGen LEMD3 (murine) 
RNA Seq Atlas 23592