Atlas of Genetics and Cytogenetics in Oncology and Haematology

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EML2 (EMAP like 2)

Identity

Alias_namesechinoderm microtubule associated protein like 2
Alias_symbol (synonym)EMAP2
ELP70
EMAP-2
Other alias
HGNC (Hugo) EML2
LocusID (NCBI) 24139
Atlas_Id 55354
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45609400 and ends at 45639427 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EML2 (19q13.32) / FOXO1 (13q14.11)EML2 (19q13.32) / GOT2 (16q21)EML2 (19q13.32) / MAN1A2 (1p12)
EML2 (19q13.32) / TRAF4 (17q11.2)GCAT (22q13.1) / EML2 (19q13.32)GYS1 (19q13.33) / EML2 (19q13.32)
OPA3 (19q13.32) / EML2 (19q13.32)GYS1 19q13.33 / EML2 19q13.32OPA3 19q13.32 / EML2 19q13.32

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  GYS1/EML2 (19q13)
OPA3/EML2 (19q13)

External links

Nomenclature
HGNC (Hugo)EML2   18035
Cards
Entrez_Gene (NCBI)EML2  24139  EMAP like 2
AliasesELP70; EMAP-2; EMAP2
GeneCards (Weizmann)EML2
Ensembl hg19 (Hinxton)ENSG00000125746 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125746 [Gene_View]  ENSG00000125746 [Sequence]  chr19:45609400-45639427 [Contig_View]  EML2 [Vega]
ICGC DataPortalENSG00000125746
TCGA cBioPortalEML2
AceView (NCBI)EML2
Genatlas (Paris)EML2
WikiGenes24139
SOURCE (Princeton)EML2
Genetics Home Reference (NIH)EML2
Genomic and cartography
GoldenPath hg38 (UCSC)EML2  -     chr19:45609400-45639427 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EML2  -     19q13.32   [Description]    (hg19-Feb_2009)
GoldenPathEML2 - 19q13.32 [CytoView hg19]  EML2 - 19q13.32 [CytoView hg38]
ImmunoBaseENSG00000125746
Mapping of homologs : NCBIEML2 [Mapview hg19]  EML2 [Mapview hg38]
OMIM617494   
Gene and transcription
Genbank (Entrez)AA352385 AB209773 AF103939 AK026616 AK225043
RefSeq transcript (Entrez)NM_001193268 NM_001193269 NM_001352051 NM_001352052 NM_001352053 NM_001352054 NM_012155
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EML2
Cluster EST : UnigeneHs.24178 [ NCBI ]
CGAP (NCI)Hs.24178
Alternative Splicing GalleryENSG00000125746
Gene ExpressionEML2 [ NCBI-GEO ]   EML2 [ EBI - ARRAY_EXPRESS ]   EML2 [ SEEK ]   EML2 [ MEM ]
Gene Expression Viewer (FireBrowse)EML2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)24139
GTEX Portal (Tissue expression)EML2
Human Protein AtlasENSG00000125746-EML2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95834   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95834  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95834
Splice isoforms : SwissVarO95834
PhosPhoSitePlusO95834
Domaine pattern : Prosite (Expaxy)WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)HELP    Quinoprotein_ADH-like_supfam    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)HELP (PF03451)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam03451    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)EML2
DMDM Disease mutations24139
Blocks (Seattle)EML2
PDB (RSDB)4CGB   
PDB Europe4CGB   
PDB (PDBSum)4CGB   
PDB (IMB)4CGB   
Structural Biology KnowledgeBase4CGB   
SCOP (Structural Classification of Proteins)4CGB   
CATH (Classification of proteins structures)4CGB   
SuperfamilyO95834
Human Protein Atlas [tissue]ENSG00000125746-EML2 [tissue]
Peptide AtlasO95834
HPRD16860
IPIIPI00015944   IPI00952803   IPI00921883   IPI00981057   IPI00981704   
Protein Interaction databases
DIP (DOE-UCLA)O95834
IntAct (EBI)O95834
FunCoupENSG00000125746
BioGRIDEML2
STRING (EMBL)EML2
ZODIACEML2
Ontologies - Pathways
QuickGOO95834
Ontology : AmiGOsignaling receptor binding  protein binding  cytoplasm  microtubule  microtubule associated complex  visual perception  sensory perception of sound  microtubule binding  microtubule binding  protein C-terminus binding  regulation of microtubule nucleation  regulation of microtubule nucleation  tubulin binding  negative regulation of microtubule polymerization  negative regulation of microtubule polymerization  mitotic spindle  
Ontology : EGO-EBIsignaling receptor binding  protein binding  cytoplasm  microtubule  microtubule associated complex  visual perception  sensory perception of sound  microtubule binding  microtubule binding  protein C-terminus binding  regulation of microtubule nucleation  regulation of microtubule nucleation  tubulin binding  negative regulation of microtubule polymerization  negative regulation of microtubule polymerization  mitotic spindle  
NDEx NetworkEML2
Atlas of Cancer Signalling NetworkEML2
Wikipedia pathwaysEML2
Orthology - Evolution
OrthoDB24139
GeneTree (enSembl)ENSG00000125746
Phylogenetic Trees/Animal Genes : TreeFamEML2
HOGENOMO95834
Homologs : HomoloGeneEML2
Homology/Alignments : Family Browser (UCSC)EML2
Gene fusions - Rearrangements
Fusion : MitelmanGYS1/EML2 [19q13.33/19q13.32]  [t(19;19)(q13;q13)]  
Fusion : MitelmanOPA3/EML2 [19q13.32/19q13.32]  [t(19;19)(q13;q13)]  
Fusion PortalGYS1 19q13.33 EML2 19q13.32 BRCA
Fusion PortalOPA3 19q13.32 EML2 19q13.32 HNSC
Fusion : QuiverEML2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEML2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EML2
dbVarEML2
ClinVarEML2
1000_GenomesEML2 
Exome Variant ServerEML2
ExAC (Exome Aggregation Consortium)ENSG00000125746
GNOMAD BrowserENSG00000125746
Varsome BrowserEML2
Genetic variants : HAPMAP24139
Genomic Variants (DGV)EML2 [DGVbeta]
DECIPHEREML2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEML2 
Mutations
ICGC Data PortalEML2 
TCGA Data PortalEML2 
Broad Tumor PortalEML2
OASIS PortalEML2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEML2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEML2
Mutations and Diseases : HGMDEML2
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 EML2
DgiDB (Drug Gene Interaction Database)EML2
DoCM (Curated mutations)EML2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EML2 (select a term)
intoGenEML2
Cancer3DEML2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617494   
Orphanet
DisGeNETEML2
MedgenEML2
Genetic Testing Registry EML2
NextProtO95834 [Medical]
TSGene24139
GENETestsEML2
Target ValidationEML2
Huge Navigator EML2 [HugePedia]
snp3D : Map Gene to Disease24139
BioCentury BCIQEML2
ClinGenEML2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD24139
Chemical/Pharm GKB GenePA27768
Clinical trialEML2
Miscellaneous
canSAR (ICR)EML2 (select the gene name)
DataMed IndexEML2
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEML2
EVEXEML2
GoPubMedEML2
iHOPEML2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:41:57 CET 2019
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