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EHD2 (EH domain containing 2)

Identity

Alias_namesPAST2
Other alias
HGNC (Hugo) EHD2
LocusID (NCBI) 30846
Atlas_Id 53067
Location 19q13.33  [Link to chromosome band 19q13]
Location_base_pair Starts at 47713344 and ends at 47743134 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AC008745.1 () / EHD2 (19q13.33)EHD2 (19q13.33) / EHD2 (19q13.33)LOC253039 () / EHD2 (19q13.33)
NPIPA1 (16p13.11) / EHD2 (19q13.33)RAB42 (1p35.3) / EHD2 (19q13.33)RAD1 (5p13.2) / EHD2 (19q13.33)
SKIL (3q26.2) / EHD2 (19q13.33)TRUB2 (9q34.11) / EHD2 (19q13.33)AC008745.1 EHD2 19q13.33

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)EHD2   3243
Cards
Entrez_Gene (NCBI)EHD2  30846  EH domain containing 2
AliasesPAST2
GeneCards (Weizmann)EHD2
Ensembl hg19 (Hinxton)ENSG00000024422 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000024422 [Gene_View]  chr19:47713344-47743134 [Contig_View]  EHD2 [Vega]
ICGC DataPortalENSG00000024422
TCGA cBioPortalEHD2
AceView (NCBI)EHD2
Genatlas (Paris)EHD2
WikiGenes30846
SOURCE (Princeton)EHD2
Genetics Home Reference (NIH)EHD2
Genomic and cartography
GoldenPath hg38 (UCSC)EHD2  -     chr19:47713344-47743134 +  19q13.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHD2  -     19q13.33   [Description]    (hg19-Feb_2009)
EnsemblEHD2 - 19q13.33 [CytoView hg19]  EHD2 - 19q13.33 [CytoView hg38]
Mapping of homologs : NCBIEHD2 [Mapview hg19]  EHD2 [Mapview hg38]
OMIM605890   
Gene and transcription
Genbank (Entrez)AF181263 AF454952 AK026134 AK074701 AK097126
RefSeq transcript (Entrez)NM_014601
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHD2
Cluster EST : UnigeneHs.744963 [ NCBI ]
CGAP (NCI)Hs.744963
Alternative Splicing GalleryENSG00000024422
Gene ExpressionEHD2 [ NCBI-GEO ]   EHD2 [ EBI - ARRAY_EXPRESS ]   EHD2 [ SEEK ]   EHD2 [ MEM ]
Gene Expression Viewer (FireBrowse)EHD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30846
GTEX Portal (Tissue expression)EHD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZN4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZN4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZN4
Splice isoforms : SwissVarQ9NZN4
PhosPhoSitePlusQ9NZN4
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    EHD2    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)EHD2
DMDM Disease mutations30846
Blocks (Seattle)EHD2
SuperfamilyQ9NZN4
Human Protein AtlasENSG00000024422
Peptide AtlasQ9NZN4
HPRD10434
IPIIPI00100980   IPI00922156   IPI00910301   IPI01012049   IPI01013671   IPI01011623   IPI01011195   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZN4
IntAct (EBI)Q9NZN4
FunCoupENSG00000024422
BioGRIDEHD2
STRING (EMBL)EHD2
ZODIACEHD2
Ontologies - Pathways
QuickGOQ9NZN4
Ontology : AmiGOnucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  cytosol  plasma membrane  plasma membrane  caveola  endocytosis  blood coagulation  endosome membrane  microtubule cytoskeleton  hydrolase activity  extrinsic component of membrane  protein domain specific binding  cortical actin cytoskeleton organization  endocytic recycling  intercellular bridge  perinuclear region of cytoplasm  recycling endosome membrane  extracellular exosome  protein localization to plasma membrane  plasma membrane tubulation  positive regulation of myoblast fusion  positive regulation of endocytic recycling  
Ontology : EGO-EBInucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  cytosol  plasma membrane  plasma membrane  caveola  endocytosis  blood coagulation  endosome membrane  microtubule cytoskeleton  hydrolase activity  extrinsic component of membrane  protein domain specific binding  cortical actin cytoskeleton organization  endocytic recycling  intercellular bridge  perinuclear region of cytoplasm  recycling endosome membrane  extracellular exosome  protein localization to plasma membrane  plasma membrane tubulation  positive regulation of myoblast fusion  positive regulation of endocytic recycling  
Pathways : KEGGEndocytosis   
NDEx NetworkEHD2
Atlas of Cancer Signalling NetworkEHD2
Wikipedia pathwaysEHD2
Orthology - Evolution
OrthoDB30846
GeneTree (enSembl)ENSG00000024422
Phylogenetic Trees/Animal Genes : TreeFamEHD2
HOVERGENQ9NZN4
HOGENOMQ9NZN4
Homologs : HomoloGeneEHD2
Homology/Alignments : Family Browser (UCSC)EHD2
Gene fusions - Rearrangements
Fusion: TCGAAC008745.1 EHD2 19q13.33 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHD2
dbVarEHD2
ClinVarEHD2
1000_GenomesEHD2 
Exome Variant ServerEHD2
ExAC (Exome Aggregation Consortium)EHD2 (select the gene name)
Genetic variants : HAPMAP30846
Genomic Variants (DGV)EHD2 [DGVbeta]
DECIPHEREHD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHD2 
Mutations
ICGC Data PortalEHD2 
TCGA Data PortalEHD2 
Broad Tumor PortalEHD2
OASIS PortalEHD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHD2
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 EHD2
DgiDB (Drug Gene Interaction Database)EHD2
DoCM (Curated mutations)EHD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHD2 (select a term)
intoGenEHD2
Cancer3DEHD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605890   
Orphanet
MedgenEHD2
Genetic Testing Registry EHD2
NextProtQ9NZN4 [Medical]
TSGene30846
GENETestsEHD2
Target ValidationEHD2
Huge Navigator EHD2 [HugePedia]
snp3D : Map Gene to Disease30846
BioCentury BCIQEHD2
ClinGenEHD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30846
Chemical/Pharm GKB GenePA27678
Clinical trialEHD2
Miscellaneous
canSAR (ICR)EHD2 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHD2
EVEXEHD2
GoPubMedEHD2
iHOPEHD2
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 19:06:36 CEST 2017

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