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EHD4 (EH domain containing 4)

Identity

Alias_namesPAST4
Other alias
HGNC (Hugo) EHD4
LocusID (NCBI) 30844
Atlas_Id 62763
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 41899441 and ends at 41972557 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
EHD4 (15q15.1) / EHD4 (15q15.1)EHD4 (15q15.1) / FSIP1 (15q14)EHD4 (15q15.1) / GPR176 (15q14)
EHD4 FSIP1EHD4 GPR176

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)EHD4   3245
Cards
Entrez_Gene (NCBI)EHD4  30844  EH domain containing 4
AliasesPAST4
GeneCards (Weizmann)EHD4
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr15:41899441-41972557 [Contig_View]  EHD4 [Vega]
TCGA cBioPortalEHD4
AceView (NCBI)EHD4
Genatlas (Paris)EHD4
WikiGenes30844
SOURCE (Princeton)EHD4
Genetics Home Reference (NIH)EHD4
Genomic and cartography
GoldenPath hg38 (UCSC)EHD4  -     chr15:41899441-41972557 -  15q15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHD4  -     15q15.1   [Description]    (hg19-Feb_2009)
EnsemblEHD4 - 15q15.1 [CytoView hg19]  EHD4 - 15q15.1 [CytoView hg38]
Mapping of homologs : NCBIEHD4 [Mapview hg19]  EHD4 [Mapview hg38]
OMIM605892   
Gene and transcription
Genbank (Entrez)AF086163 AF181265 AF307137 AF323924 AF454953
RefSeq transcript (Entrez)NM_139265
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EHD4
Cluster EST : UnigeneHs.143703 [ NCBI ]
CGAP (NCI)Hs.143703
Gene ExpressionEHD4 [ NCBI-GEO ]   EHD4 [ EBI - ARRAY_EXPRESS ]   EHD4 [ SEEK ]   EHD4 [ MEM ]
Gene Expression Viewer (FireBrowse)EHD4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30844
GTEX Portal (Tissue expression)EHD4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H223   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H223  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H223
Splice isoforms : SwissVarQ9H223
PhosPhoSitePlusQ9H223
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    EHD4    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)EHD4
DMDM Disease mutations30844
Blocks (Seattle)EHD4
SuperfamilyQ9H223
Peptide AtlasQ9H223
HPRD10435
IPIIPI00005578   
Protein Interaction databases
DIP (DOE-UCLA)Q9H223
IntAct (EBI)Q9H223
BioGRIDEHD4
STRING (EMBL)EHD4
ZODIACEHD4
Ontologies - Pathways
QuickGOQ9H223
Ontology : AmiGOnucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  endoplasmic reticulum  plasma membrane  pinocytosis  membrane  regulation of endocytosis  early endosome membrane  endocytic recycling  cadherin binding  perinuclear region of cytoplasm  positive regulation of peptidyl-tyrosine phosphorylation  protein homooligomerization  recycling endosome membrane  extracellular exosome  cellular response to growth factor stimulus  
Ontology : EGO-EBInucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  endoplasmic reticulum  plasma membrane  pinocytosis  membrane  regulation of endocytosis  early endosome membrane  endocytic recycling  cadherin binding  perinuclear region of cytoplasm  positive regulation of peptidyl-tyrosine phosphorylation  protein homooligomerization  recycling endosome membrane  extracellular exosome  cellular response to growth factor stimulus  
Pathways : KEGGEndocytosis   
NDEx NetworkEHD4
Atlas of Cancer Signalling NetworkEHD4
Wikipedia pathwaysEHD4
Orthology - Evolution
OrthoDB30844
Phylogenetic Trees/Animal Genes : TreeFamEHD4
HOVERGENQ9H223
HOGENOMQ9H223
Homologs : HomoloGeneEHD4
Homology/Alignments : Family Browser (UCSC)EHD4
Gene fusions - Rearrangements
Fusion: TCGAEHD4 FSIP1
Fusion: TCGAEHD4 GPR176
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHD4
dbVarEHD4
ClinVarEHD4
1000_GenomesEHD4 
Exome Variant ServerEHD4
ExAC (Exome Aggregation Consortium)EHD4 (select the gene name)
Genetic variants : HAPMAP30844
Genomic Variants (DGV)EHD4 [DGVbeta]
DECIPHEREHD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEHD4 
Mutations
ICGC Data PortalEHD4 
TCGA Data PortalEHD4 
Broad Tumor PortalEHD4
OASIS PortalEHD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEHD4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEHD4
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 EHD4
DgiDB (Drug Gene Interaction Database)EHD4
DoCM (Curated mutations)EHD4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EHD4 (select a term)
intoGenEHD4
Cancer3DEHD4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605892   
Orphanet
MedgenEHD4
Genetic Testing Registry EHD4
NextProtQ9H223 [Medical]
TSGene30844
GENETestsEHD4
Target ValidationEHD4
Huge Navigator EHD4 [HugePedia]
snp3D : Map Gene to Disease30844
BioCentury BCIQEHD4
ClinGenEHD4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD30844
Chemical/Pharm GKB GenePA27680
Clinical trialEHD4
Miscellaneous
canSAR (ICR)EHD4 (select the gene name)
Probes
Litterature
PubMed34 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEHD4
EVEXEHD4
GoPubMedEHD4
iHOPEHD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:06:56 CEST 2017

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