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EEA1 (early endosome antigen 1)

Identity

Alias_namesearly endosome antigen 1, 162kD
Alias_symbol (synonym)ZFYVE2
Other aliasMST105
MSTP105
HGNC (Hugo) EEA1
LocusID (NCBI) 8411
Atlas_Id 46636
Location 12q22  [Link to chromosome band 12q22]
Location_base_pair Starts at 92770637 and ends at 92929295 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)
APLP2 (11q24.3) / EEA1 (12q22)APP (21q21.3) / EEA1 (12q22)BSG (19p13.3) / EEA1 (12q22)
COL4A2 (13q34) / EEA1 (12q22)DBNL (7p13) / EEA1 (12q22)EEA1 (12q22) / CRADD (12q22)
EEA1 (12q22) / MPG (16p13.3)EEA1 (12q22) / MUM1 (19p13.3)EEA1 (12q22) / PAH (12q23.2)
EEA1 (12q22) / TMCC3 (12q22)EEA1 (12q22) / UBE2N (12q22)EEA1 (12q22) / WDR61 (15q25.1)
LHFPL3 (7q22.2) / EEA1 (12q22)PTGDS (9q34.3) / EEA1 (12q22)SLC34A2 (4p15.2) / EEA1 (12q22)
VIM (10p13) / EEA1 (12q22)APLP2 11q24.3 / EEA1 12q22APP 21q21.3 / EEA1 12q22
BSG 19p13.3 / EEA1 12q22COL4A2 13q34 / EEA1 12q22DBNL 7p13 / EEA1 12q22
EEA1 12q22 / CRADD 12q22EEA1 12q22 / MPG 16p13.3EEA1 12q22 / PAH 12q23.2
EEA1 12q22 / TMCC3 12q22EEA1 12q22 / UBE2N 12q22LHFPL3 7q22.2 / EEA1 12q22
PTGDS 9q34.3 / EEA1 12q22SLC34A2 4p15.2 / EEA1 12q22VIM 10p13 / EEA1 12q22

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) [ 8 ]
  t(4;12)(p15;q22) SLC34A2/EEA1
t(7;12)(q22;q22) LHFPL3/EEA1
t(9;12)(q34;q22) PTGDS/EEA1
t(11;12)(q24;q22) APLP2/EEA1
t(12;12)(q22;q23) EEA1/PAH
t(12;16)(q22;p13) EEA1/MPG
t(12;19)(q22;p13) BSG/EEA1
t(12;21)(q22;q21) APP/EEA1

External links

Nomenclature
HGNC (Hugo)EEA1   3185
Cards
Entrez_Gene (NCBI)EEA1  8411  early endosome antigen 1
AliasesMST105; MSTP105; ZFYVE2
GeneCards (Weizmann)EEA1
Ensembl hg19 (Hinxton)ENSG00000102189 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102189 [Gene_View]  ENSG00000102189 [Sequence]  chr12:92770637-92929295 [Contig_View]  EEA1 [Vega]
ICGC DataPortalENSG00000102189
TCGA cBioPortalEEA1
AceView (NCBI)EEA1
Genatlas (Paris)EEA1
WikiGenes8411
SOURCE (Princeton)EEA1
Genetics Home Reference (NIH)EEA1
Genomic and cartography
GoldenPath hg38 (UCSC)EEA1  -     chr12:92770637-92929295 -  12q22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EEA1  -     12q22   [Description]    (hg19-Feb_2009)
GoldenPathEEA1 - 12q22 [CytoView hg19]  EEA1 - 12q22 [CytoView hg38]
ImmunoBaseENSG00000102189
Mapping of homologs : NCBIEEA1 [Mapview hg19]  EEA1 [Mapview hg38]
OMIM605070   
Gene and transcription
Genbank (Entrez)AF173389 AK292008 AK307918 BC017837 BC041930
RefSeq transcript (Entrez)NM_003566
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EEA1
Alternative Splicing GalleryENSG00000102189
Gene ExpressionEEA1 [ NCBI-GEO ]   EEA1 [ EBI - ARRAY_EXPRESS ]   EEA1 [ SEEK ]   EEA1 [ MEM ]
Gene Expression Viewer (FireBrowse)EEA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8411
GTEX Portal (Tissue expression)EEA1
Human Protein AtlasENSG00000102189-EEA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15075   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15075  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15075
Splice isoforms : SwissVarQ15075
PhosPhoSitePlusQ15075
Domaine pattern : Prosite (Expaxy)ZF_FYVE (PS50178)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)Znf_C2H2_type    Znf_FYVE    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)FYVE (PF01363)   
Domain families : Pfam (NCBI)pfam01363   
Domain families : Smart (EMBL)FYVE (SM00064)  
Conserved Domain (NCBI)EEA1
DMDM Disease mutations8411
Blocks (Seattle)EEA1
PDB (RSDB)1HYI    1HYJ    1JOC    3MJH   
PDB Europe1HYI    1HYJ    1JOC    3MJH   
PDB (PDBSum)1HYI    1HYJ    1JOC    3MJH   
PDB (IMB)1HYI    1HYJ    1JOC    3MJH   
Structural Biology KnowledgeBase1HYI    1HYJ    1JOC    3MJH   
SCOP (Structural Classification of Proteins)1HYI    1HYJ    1JOC    3MJH   
CATH (Classification of proteins structures)1HYI    1HYJ    1JOC    3MJH   
SuperfamilyQ15075
Human Protein Atlas [tissue]ENSG00000102189-EEA1 [tissue]
Peptide AtlasQ15075
HPRD05460
IPIIPI00329536   IPI00385088   IPI01010478   IPI01022215   IPI01022383   IPI00941708   
Protein Interaction databases
DIP (DOE-UCLA)Q15075
IntAct (EBI)Q15075
FunCoupENSG00000102189
BioGRIDEEA1
STRING (EMBL)EEA1
ZODIACEEA1
Ontologies - Pathways
QuickGOQ15075
Ontology : AmiGOnucleic acid binding  protein binding  calmodulin binding  1-phosphatidylinositol binding  cytoplasm  early endosome  cytosol  serine-pyruvate aminotransferase complex  endocytosis  vesicle fusion  zinc ion binding  membrane  synaptic vesicle to endosome fusion  extrinsic component of plasma membrane  GTP-dependent protein binding  early endosome membrane  viral RNA genome replication  protein homodimerization activity  axonal spine  early endosome to late endosome transport  recycling endosome  extracellular exosome  
Ontology : EGO-EBInucleic acid binding  protein binding  calmodulin binding  1-phosphatidylinositol binding  cytoplasm  early endosome  cytosol  serine-pyruvate aminotransferase complex  endocytosis  vesicle fusion  zinc ion binding  membrane  synaptic vesicle to endosome fusion  extrinsic component of plasma membrane  GTP-dependent protein binding  early endosome membrane  viral RNA genome replication  protein homodimerization activity  axonal spine  early endosome to late endosome transport  recycling endosome  extracellular exosome  
Pathways : KEGGEndocytosis    Phagosome    Tuberculosis   
NDEx NetworkEEA1
Atlas of Cancer Signalling NetworkEEA1
Wikipedia pathwaysEEA1
Orthology - Evolution
OrthoDB8411
GeneTree (enSembl)ENSG00000102189
Phylogenetic Trees/Animal Genes : TreeFamEEA1
HOGENOMQ15075
Homologs : HomoloGeneEEA1
Homology/Alignments : Family Browser (UCSC)EEA1
Gene fusions - Rearrangements
Fusion : MitelmanAPLP2/EEA1 [11q24.3/12q22]  [t(11;12)(q24;q22)]  
Fusion : MitelmanAPP/EEA1 [21q21.3/12q22]  [t(12;21)(q22;q21)]  
Fusion : MitelmanBSG/EEA1 [19p13.3/12q22]  [t(12;19)(q22;p13)]  
Fusion : MitelmanEEA1/MPG [12q22/16p13.3]  [t(12;16)(q22;p13)]  
Fusion : MitelmanEEA1/PAH [12q22/12q23.2]  [t(12;12)(q22;q23)]  
Fusion : MitelmanLHFPL3/EEA1 [7q22.2/12q22]  [t(7;12)(q22;q22)]  
Fusion : MitelmanPTGDS/EEA1 [9q34.3/12q22]  [t(9;12)(q34;q22)]  
Fusion : MitelmanSLC34A2/EEA1 [4p15.2/12q22]  [t(4;12)(p15;q22)]  
Fusion PortalAPLP2 11q24.3 EEA1 12q22 THCA
Fusion PortalAPP 21q21.3 EEA1 12q22 LGG
Fusion PortalBSG 19p13.3 EEA1 12q22 THCA
Fusion PortalCOL4A2 13q34 EEA1 12q22 KIRC
Fusion PortalDBNL 7p13 EEA1 12q22 HNSC
Fusion PortalEEA1 12q22 CRADD 12q22 BLCA
Fusion PortalEEA1 12q22 MPG 16p13.3 OV
Fusion PortalEEA1 12q22 PAH 12q23.2 BRCA
Fusion PortalEEA1 12q22 TMCC3 12q22 BRCA
Fusion PortalEEA1 12q22 UBE2N 12q22 LUAD
Fusion PortalLHFPL3 7q22.2 EEA1 12q22 LGG
Fusion PortalPTGDS 9q34.3 EEA1 12q22 LGG
Fusion PortalSLC34A2 4p15.2 EEA1 12q22 LUAD
Fusion PortalVIM 10p13 EEA1 12q22 HNSC
Fusion : QuiverEEA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEEA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EEA1
dbVarEEA1
ClinVarEEA1
1000_GenomesEEA1 
Exome Variant ServerEEA1
ExAC (Exome Aggregation Consortium)ENSG00000102189
GNOMAD BrowserENSG00000102189
Varsome BrowserEEA1
Genetic variants : HAPMAP8411
Genomic Variants (DGV)EEA1 [DGVbeta]
DECIPHEREEA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEEA1 
Mutations
ICGC Data PortalEEA1 
TCGA Data PortalEEA1 
Broad Tumor PortalEEA1
OASIS PortalEEA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEEA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEEA1
Mutations and Diseases : HGMDEEA1
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 EEA1
DgiDB (Drug Gene Interaction Database)EEA1
DoCM (Curated mutations)EEA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EEA1 (select a term)
intoGenEEA1
Cancer3DEEA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605070   
Orphanet
DisGeNETEEA1
MedgenEEA1
Genetic Testing Registry EEA1
NextProtQ15075 [Medical]
TSGene8411
GENETestsEEA1
Target ValidationEEA1
Huge Navigator EEA1 [HugePedia]
snp3D : Map Gene to Disease8411
BioCentury BCIQEEA1
ClinGenEEA1
Clinical trials, drugs, therapy
Protein Interactions : CTD8411
Pharm GKB GenePA27621
Clinical trialEEA1
Miscellaneous
canSAR (ICR)EEA1 (select the gene name)
HarmonizomeEEA1
DataMed IndexEEA1
Probes
Litterature
PubMed98 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEEA1
EVEXEEA1
GoPubMedEEA1
iHOPEEA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Jun 30 20:14:56 CEST 2020
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