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EHD3 (EH domain containing 3)

Identity

Alias_namesPAST3
Other alias
HGNC (Hugo) EHD3
LocusID (NCBI) 30845
Atlas_Id 53932
Location 2p23.1  [Link to chromosome band 2p23]
Location_base_pair Starts at 31234014 and ends at 31268394 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EHD3 (2p23.1) / CTNND2 (5p15.2)

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)EHD3   3244
Cards
Entrez_Gene (NCBI)EHD3  30845  EH domain containing 3
AliasesPAST3
GeneCards (Weizmann)EHD3
Ensembl hg19 (Hinxton)ENSG00000013016 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000013016 [Gene_View]  chr2:31234014-31268394 [Contig_View]  EHD3 [Vega]
ICGC DataPortalENSG00000013016
TCGA cBioPortalEHD3
AceView (NCBI)EHD3
Genatlas (Paris)EHD3
WikiGenes30845
SOURCE (Princeton)EHD3
Genetics Home Reference (NIH)EHD3
Genomic and cartography
GoldenPath hg38 (UCSC)EHD3  -     chr2:31234014-31268394 +  2p23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHD3  -     2p23.1   [Description]    (hg19-Feb_2009)
EnsemblEHD3 - 2p23.1 [CytoView hg19]  EHD3 - 2p23.1 [CytoView hg38]
Mapping of homologs : NCBIEHD3 [Mapview hg19]  EHD3 [Mapview hg38]
OMIM605891   
Gene and transcription
Genbank (Entrez)AF181264 AF214736 AK294222 AK316006 BC033100
RefSeq transcript (Entrez)NM_014600
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHD3
Cluster EST : UnigeneHs.368808 [ NCBI ]
CGAP (NCI)Hs.368808
Alternative Splicing GalleryENSG00000013016
Gene ExpressionEHD3 [ NCBI-GEO ]   EHD3 [ EBI - ARRAY_EXPRESS ]   EHD3 [ SEEK ]   EHD3 [ MEM ]
Gene Expression Viewer (FireBrowse)EHD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30845
GTEX Portal (Tissue expression)EHD3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZN3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZN3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZN3
Splice isoforms : SwissVarQ9NZN3
PhosPhoSitePlusQ9NZN3
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)Dynamin_SF    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    EHD_N    G_DYNAMIN_dom    P-loop_NTPase   
Domain families : Pfam (Sanger)Dynamin_N (PF00350)    EF-hand_4 (PF12763)    EHD_N (PF16880)   
Domain families : Pfam (NCBI)pfam00350    pfam12763    pfam16880   
Domain families : Smart (EMBL)EH (SM00027)  
Conserved Domain (NCBI)EHD3
DMDM Disease mutations30845
Blocks (Seattle)EHD3
SuperfamilyQ9NZN3
Human Protein AtlasENSG00000013016
Peptide AtlasQ9NZN3
HPRD16170
IPIIPI01015441   IPI00021458   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZN3
IntAct (EBI)Q9NZN3
FunCoupENSG00000013016
BioGRIDEHD3
STRING (EMBL)EHD3
ZODIACEHD3
Ontologies - Pathways
QuickGOQ9NZN3
Ontology : AmiGOreceptor recycling  nucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  cytoplasm  cytosol  focal adhesion  blood coagulation  endosome membrane  ciliary pocket membrane  endocytic vesicle  endocytic recycling  early endosome to Golgi transport  myelin sheath  perinuclear region of cytoplasm  protein homooligomerization  recycling endosome membrane  regulation of cardiac muscle contraction  cilium assembly  protein targeting to plasma membrane  regulation of cardiac muscle cell membrane potential  Golgi to lysosome transport  positive regulation of voltage-gated calcium channel activity  regulation of Golgi organization  regulation of cardiac conduction  
Ontology : EGO-EBIreceptor recycling  nucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  cytoplasm  cytosol  focal adhesion  blood coagulation  endosome membrane  ciliary pocket membrane  endocytic vesicle  endocytic recycling  early endosome to Golgi transport  myelin sheath  perinuclear region of cytoplasm  protein homooligomerization  recycling endosome membrane  regulation of cardiac muscle contraction  cilium assembly  protein targeting to plasma membrane  regulation of cardiac muscle cell membrane potential  Golgi to lysosome transport  positive regulation of voltage-gated calcium channel activity  regulation of Golgi organization  regulation of cardiac conduction  
Pathways : KEGGEndocytosis   
NDEx NetworkEHD3
Atlas of Cancer Signalling NetworkEHD3
Wikipedia pathwaysEHD3
Orthology - Evolution
OrthoDB30845
GeneTree (enSembl)ENSG00000013016
Phylogenetic Trees/Animal Genes : TreeFamEHD3
HOVERGENQ9NZN3
HOGENOMQ9NZN3
Homologs : HomoloGeneEHD3
Homology/Alignments : Family Browser (UCSC)EHD3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHD3
dbVarEHD3
ClinVarEHD3
1000_GenomesEHD3 
Exome Variant ServerEHD3
ExAC (Exome Aggregation Consortium)EHD3 (select the gene name)
Genetic variants : HAPMAP30845
Genomic Variants (DGV)EHD3 [DGVbeta]
DECIPHEREHD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHD3 
Mutations
ICGC Data PortalEHD3 
TCGA Data PortalEHD3 
Broad Tumor PortalEHD3
OASIS PortalEHD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHD3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHD3
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 EHD3
DgiDB (Drug Gene Interaction Database)EHD3
DoCM (Curated mutations)EHD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHD3 (select a term)
intoGenEHD3
Cancer3DEHD3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605891   
Orphanet
MedgenEHD3
Genetic Testing Registry EHD3
NextProtQ9NZN3 [Medical]
TSGene30845
GENETestsEHD3
Target ValidationEHD3
Huge Navigator EHD3 [HugePedia]
snp3D : Map Gene to Disease30845
BioCentury BCIQEHD3
ClinGenEHD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30845
Chemical/Pharm GKB GenePA27679
Clinical trialEHD3
Miscellaneous
canSAR (ICR)EHD3 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHD3
EVEXEHD3
GoPubMedEHD3
iHOPEHD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Sep 25 19:06:37 CEST 2017

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