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LEMD3 (LEM domain containing 3)

Identity

Alias_symbol (synonym)MAN1
HGNC (Hugo) LEMD3
LocusID (NCBI) 23592
Atlas_Id 51755
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 65563351 and ends at 65642141 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
LEMD3 (12q14.3) / LYZ (12q15)LEMD3 (12q14.3) / MAPK14 (6p21.31)LEMD3 (12q14.3) / PPP6C (9q33.3)
LEMD3 (12q14.3) / XPOT (12q14.2)LEMD3 12q14.3 / LYZ 12q15LEMD3 12q14.3 / XPOT 12q14.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)LEMD3   28887
Cards
Entrez_Gene (NCBI)LEMD3  23592  LEM domain containing 3
AliasesMAN1
GeneCards (Weizmann)LEMD3
Ensembl hg19 (Hinxton)ENSG00000174106 [Gene_View]  chr12:65563351-65642141 [Contig_View]  LEMD3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000174106 [Gene_View]  chr12:65563351-65642141 [Contig_View]  LEMD3 [Vega]
ICGC DataPortalENSG00000174106
TCGA cBioPortalLEMD3
AceView (NCBI)LEMD3
Genatlas (Paris)LEMD3
WikiGenes23592
SOURCE (Princeton)LEMD3
Genetics Home Reference (NIH)LEMD3
Genomic and cartography
GoldenPath hg19 (UCSC)LEMD3  -     chr12:65563351-65642141 +  12q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)LEMD3  -     12q14.3   [Description]    (hg38-Dec_2013)
EnsemblLEMD3 - 12q14.3 [CytoView hg19]  LEMD3 - 12q14.3 [CytoView hg38]
Mapping of homologs : NCBILEMD3 [Mapview hg19]  LEMD3 [Mapview hg38]
OMIM155950   166700   607844   
Gene and transcription
Genbank (Entrez)AF112299 AK024954 AK295406 AK304317 AK312473
RefSeq transcript (Entrez)NM_001167614 NM_014319
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016210 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)LEMD3
Cluster EST : UnigeneHs.744150 [ NCBI ]
CGAP (NCI)Hs.744150
Alternative Splicing GalleryENSG00000174106
Gene ExpressionLEMD3 [ NCBI-GEO ]   LEMD3 [ EBI - ARRAY_EXPRESS ]   LEMD3 [ SEEK ]   LEMD3 [ MEM ]
Gene Expression Viewer (FireBrowse)LEMD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23592
GTEX Portal (Tissue expression)LEMD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2U8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2U8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2U8
Splice isoforms : SwissVarQ9Y2U8
PhosPhoSitePlusQ9Y2U8
Domaine pattern : Prosite (Expaxy)LEM (PS50954)   
Domains : Interpro (EBI)Inner-Nucl-membr_MAN1    LEM/LEM-like_dom    LEM_dom    Nucleotide-bd_a/b_plait   
Domain families : Pfam (Sanger)LEM (PF03020)    MSC (PF09402)   
Domain families : Pfam (NCBI)pfam03020    pfam09402   
Domain families : Smart (EMBL)LEM (SM00540)  
Conserved Domain (NCBI)LEMD3
DMDM Disease mutations23592
Blocks (Seattle)LEMD3
PDB (SRS)2CH0   
PDB (PDBSum)2CH0   
PDB (IMB)2CH0   
PDB (RSDB)2CH0   
Structural Biology KnowledgeBase2CH0   
SCOP (Structural Classification of Proteins)2CH0   
CATH (Classification of proteins structures)2CH0   
SuperfamilyQ9Y2U8
Human Protein AtlasENSG00000174106
Peptide AtlasQ9Y2U8
HPRD09704
IPIIPI00032491   IPI00954965   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2U8
IntAct (EBI)Q9Y2U8
FunCoupENSG00000174106
BioGRIDLEMD3
STRING (EMBL)LEMD3
ZODIACLEMD3
Ontologies - Pathways
QuickGOQ9Y2U8
Ontology : AmiGOnucleotide binding  DNA binding  protein binding  nuclear inner membrane  integral component of nuclear inner membrane  membrane  integral component of membrane  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of activin receptor signaling pathway  
Ontology : EGO-EBInucleotide binding  DNA binding  protein binding  nuclear inner membrane  integral component of nuclear inner membrane  membrane  integral component of membrane  negative regulation of transforming growth factor beta receptor signaling pathway  negative regulation of BMP signaling pathway  negative regulation of activin receptor signaling pathway  
NDEx NetworkLEMD3
Atlas of Cancer Signalling NetworkLEMD3
Wikipedia pathwaysLEMD3
Orthology - Evolution
OrthoDB23592
GeneTree (enSembl)ENSG00000174106
Phylogenetic Trees/Animal Genes : TreeFamLEMD3
HOVERGENQ9Y2U8
HOGENOMQ9Y2U8
Homologs : HomoloGeneLEMD3
Homology/Alignments : Family Browser (UCSC)LEMD3
Gene fusions - Rearrangements
Fusion : MitelmanLEMD3/LYZ [12q14.3/12q15]  
Fusion : MitelmanLEMD3/XPOT [12q14.3/12q14.2]  [t(12;12)(q14;q14)]  
Fusion: TCGALEMD3 12q14.3 LYZ 12q15 BRCA
Fusion: TCGALEMD3 12q14.3 XPOT 12q14.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLEMD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LEMD3
dbVarLEMD3
ClinVarLEMD3
1000_GenomesLEMD3 
Exome Variant ServerLEMD3
ExAC (Exome Aggregation Consortium)LEMD3 (select the gene name)
Genetic variants : HAPMAP23592
Genomic Variants (DGV)LEMD3 [DGVbeta]
DECIPHER (Syndromes)12:65563351-65642141  ENSG00000174106
CONAN: Copy Number AnalysisLEMD3 
Mutations
ICGC Data PortalLEMD3 
TCGA Data PortalLEMD3 
Broad Tumor PortalLEMD3
OASIS PortalLEMD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLEMD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLEMD3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LEMD3
DgiDB (Drug Gene Interaction Database)LEMD3
DoCM (Curated mutations)LEMD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LEMD3 (select a term)
intoGenLEMD3
Cancer3DLEMD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM155950    166700    607844   
Orphanet17622    1847    2533    12544   
MedgenLEMD3
Genetic Testing Registry LEMD3
NextProtQ9Y2U8 [Medical]
TSGene23592
GENETestsLEMD3
Huge Navigator LEMD3 [HugePedia]
snp3D : Map Gene to Disease23592
BioCentury BCIQLEMD3
ClinGenLEMD3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23592
Chemical/Pharm GKB GenePA134907442
Clinical trialLEMD3
Miscellaneous
canSAR (ICR)LEMD3 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLEMD3
EVEXLEMD3
GoPubMedLEMD3
iHOPLEMD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 19:41:43 CET 2016

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