Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

MAEA (macrophage erythroblast attacher)

Identity

Alias_namesFYV10 homolog (S. cerevisiae)
Alias_symbol (synonym)EMP
GID9
Other aliasEMLP
HLC-10
PIG5
HGNC (Hugo) MAEA
LocusID (NCBI) 10296
Atlas_Id 53022
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 1289851 and ends at 1340148 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FUS (16p11.2) / MAEA (4p16.3)MAEA (4p16.3) / CTBP1 (4p16.3)MAEA (4p16.3) / MAEA (4p16.3)
MAEA (4p16.3) / PDGFRB (5q32)MAEA (4p16.3) / TMEM71 (8q24.22)PDGFRB (5q32) / MAEA (4p16.3)
STK11 (19p13.3) / MAEA (4p16.3)UVSSA (4p16.3) / MAEA (4p16.3)KIAA1530 MAEA 4p16.3
MAEA 4p16.3 / CTBP1 4p16.3MAEA 4p16.3 / TMEM71 8q24.22

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)MAEA   13731
Cards
Entrez_Gene (NCBI)MAEA  10296  macrophage erythroblast attacher
AliasesEMLP; EMP; GID9; HLC-10; 
PIG5
GeneCards (Weizmann)MAEA
Ensembl hg19 (Hinxton)ENSG00000090316 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090316 [Gene_View]  chr4:1289851-1340148 [Contig_View]  MAEA [Vega]
ICGC DataPortalENSG00000090316
TCGA cBioPortalMAEA
AceView (NCBI)MAEA
Genatlas (Paris)MAEA
WikiGenes10296
SOURCE (Princeton)MAEA
Genetics Home Reference (NIH)MAEA
Genomic and cartography
GoldenPath hg38 (UCSC)MAEA  -     chr4:1289851-1340148 +  4p16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MAEA  -     4p16.3   [Description]    (hg19-Feb_2009)
EnsemblMAEA - 4p16.3 [CytoView hg19]  MAEA - 4p16.3 [CytoView hg38]
Mapping of homologs : NCBIMAEA [Mapview hg19]  MAEA [Mapview hg38]
OMIM606801   
Gene and transcription
Genbank (Entrez)AB208907 AF084928 AK001088 AK022515 AK022586
RefSeq transcript (Entrez)NM_001017405 NM_001297430 NM_001297431 NM_001297432 NM_001297433 NM_005882
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MAEA
Cluster EST : UnigeneHs.139896 [ NCBI ]
CGAP (NCI)Hs.139896
Alternative Splicing GalleryENSG00000090316
Gene ExpressionMAEA [ NCBI-GEO ]   MAEA [ EBI - ARRAY_EXPRESS ]   MAEA [ SEEK ]   MAEA [ MEM ]
Gene Expression Viewer (FireBrowse)MAEA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10296
GTEX Portal (Tissue expression)MAEA
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L5Y9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L5Y9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L5Y9
Splice isoforms : SwissVarQ7L5Y9
PhosPhoSitePlusQ7L5Y9
Domaine pattern : Prosite (Expaxy)CTLH (PS50897)    LISH (PS50896)   
Domains : Interpro (EBI)CRA_dom    CTLH/CRA    CTLH_C    Fyv10/EMP    LisH    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)CLTH (PF10607)   
Domain families : Pfam (NCBI)pfam10607   
Domain families : Smart (EMBL)CRA (SM00757)  CTLH (SM00668)  LisH (SM00667)  
Conserved Domain (NCBI)MAEA
DMDM Disease mutations10296
Blocks (Seattle)MAEA
SuperfamilyQ7L5Y9
Human Protein AtlasENSG00000090316
Peptide AtlasQ7L5Y9
HPRD08427
IPIIPI00607605   IPI00845303   IPI00556323   IPI00419963   IPI00845323   IPI00910834   IPI00937771   IPI00445707   IPI00964423   IPI00969159   IPI00965418   IPI00965866   IPI00964223   IPI00963954   IPI00965383   IPI00964682   IPI00965962   IPI00965662   
Protein Interaction databases
DIP (DOE-UCLA)Q7L5Y9
IntAct (EBI)Q7L5Y9
FunCoupENSG00000090316
BioGRIDMAEA
STRING (EMBL)MAEA
ZODIACMAEA
Ontologies - Pathways
QuickGOQ7L5Y9
Ontology : AmiGOactin binding  ubiquitin-protein transferase activity  nucleus  nucleoplasm  spindle  actomyosin contractile ring  cytoskeleton  integral component of plasma membrane  cytoskeleton organization  cell cycle  cell adhesion  regulation of mitotic cell cycle  nuclear matrix  negative regulation of myeloid cell apoptotic process  GID complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  erythrocyte maturation  negative regulation of gluconeogenesis  enucleate erythrocyte development  cell division  
Ontology : EGO-EBIactin binding  ubiquitin-protein transferase activity  nucleus  nucleoplasm  spindle  actomyosin contractile ring  cytoskeleton  integral component of plasma membrane  cytoskeleton organization  cell cycle  cell adhesion  regulation of mitotic cell cycle  nuclear matrix  negative regulation of myeloid cell apoptotic process  GID complex  protein ubiquitination involved in ubiquitin-dependent protein catabolic process  proteasome-mediated ubiquitin-dependent protein catabolic process  erythrocyte maturation  negative regulation of gluconeogenesis  enucleate erythrocyte development  cell division  
NDEx NetworkMAEA
Atlas of Cancer Signalling NetworkMAEA
Wikipedia pathwaysMAEA
Orthology - Evolution
OrthoDB10296
GeneTree (enSembl)ENSG00000090316
Phylogenetic Trees/Animal Genes : TreeFamMAEA
HOVERGENQ7L5Y9
HOGENOMQ7L5Y9
Homologs : HomoloGeneMAEA
Homology/Alignments : Family Browser (UCSC)MAEA
Gene fusions - Rearrangements
Fusion : MitelmanMAEA/CTBP1 [4p16.3/4p16.3]  
Fusion : MitelmanMAEA/TMEM71 [4p16.3/8q24.22]  [t(4;8)(p16;q24)]  
Fusion : MitelmanUVSSA/MAEA [4p16.3/4p16.3]  [t(4;4)(p16;p16)]  
Fusion: TCGAKIAA1530 MAEA 4p16.3 LAML
Fusion: TCGAMAEA 4p16.3 CTBP1 4p16.3 LAML
Fusion: TCGAMAEA 4p16.3 TMEM71 8q24.22 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMAEA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MAEA
dbVarMAEA
ClinVarMAEA
1000_GenomesMAEA 
Exome Variant ServerMAEA
ExAC (Exome Aggregation Consortium)MAEA (select the gene name)
Genetic variants : HAPMAP10296
Genomic Variants (DGV)MAEA [DGVbeta]
DECIPHERMAEA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMAEA 
Mutations
ICGC Data PortalMAEA 
TCGA Data PortalMAEA 
Broad Tumor PortalMAEA
OASIS PortalMAEA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMAEA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMAEA
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 MAEA
DgiDB (Drug Gene Interaction Database)MAEA
DoCM (Curated mutations)MAEA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MAEA (select a term)
intoGenMAEA
Cancer3DMAEA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606801   
Orphanet
MedgenMAEA
Genetic Testing Registry MAEA
NextProtQ7L5Y9 [Medical]
TSGene10296
GENETestsMAEA
Target ValidationMAEA
Huge Navigator MAEA [HugePedia]
snp3D : Map Gene to Disease10296
BioCentury BCIQMAEA
ClinGenMAEA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10296
Chemical/Pharm GKB GenePA30533
Clinical trialMAEA
Miscellaneous
canSAR (ICR)MAEA (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMAEA
EVEXMAEA
GoPubMedMAEA
iHOPMAEA
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 : Mon Sep 25 19:16:50 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.