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EHD4 (EH domain containing 4)

Identity

Alias (NCBI)PAST4
HGNC (Hugo) EHD4
HGNC Previous namePAST4
LocusID (NCBI) 30844
Atlas_Id 62763
Location 15q15.1  [Link to chromosome band 15q15]
Location_base_pair Starts at 41895933 and ends at 41972557 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)
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    EH domain containing 4
AliasesPAST4
GeneCards (Weizmann)EHD4
Ensembl hg19 (Hinxton)ENSG00000103966 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103966 [Gene_View]  ENSG00000103966 [Sequence]  chr15:41895933-41972557 [Contig_View]  EHD4 [Vega]
ICGC DataPortalENSG00000103966
TCGA cBioPortalEHD4
AceView (NCBI)EHD4
Genatlas (Paris)EHD4
SOURCE (Princeton)EHD4
Genetics Home Reference (NIH)EHD4
Genomic and cartography
GoldenPath hg38 (UCSC)EHD4  -     chr15:41895933-41972557 -  15q15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EHD4  -     15q15.1   [Description]    (hg19-Feb_2009)
GoldenPathEHD4 - 15q15.1 [CytoView hg19]  EHD4 - 15q15.1 [CytoView hg38]
ImmunoBaseENSG00000103966
Genome Data Viewer NCBIEHD4 [Mapview hg19]  
OMIM605892   
Gene and transcription
Genbank (Entrez)AF086163 AF181265 AF307137 AF323924 AF454953
RefSeq transcript (Entrez)NM_139265
Consensus coding sequences : CCDS (NCBI)EHD4
Gene ExpressionEHD4 [ NCBI-GEO ]   EHD4 [ EBI - ARRAY_EXPRESS ]   EHD4 [ SEEK ]   EHD4 [ MEM ]
Gene Expression Viewer (FireBrowse)EHD4 [ Firebrowse - Broad ]
GenevisibleExpression of EHD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)30844
GTEX Portal (Tissue expression)EHD4
Human Protein AtlasENSG00000103966-EHD4 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9H223
Domaine pattern : Prosite (Expaxy)EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    G_DYNAMIN_2 (PS51718)   
Domains : Interpro (EBI)DUF5600    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)DUF5600 (PF18150)    Dynamin_N (PF00350)    EF-hand_4 (PF12763)    EHD_N (PF16880)   
Domain families : Pfam (NCBI)pfam18150    pfam00350    pfam12763    pfam16880   
Domain families : Smart (EMBL)EH (SM00027)  
Conserved Domain (NCBI)EHD4
SuperfamilyQ9H223
AlphaFold pdb e-kbQ9H223   
Human Protein Atlas [tissue]ENSG00000103966-EHD4 [tissue]
HPRD10435
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  cytoplasm  early endosome  endoplasmic reticulum  plasma membrane  plasma membrane  endocytosis  pinocytosis  membrane  endosomal transport  regulation of endocytosis  endocytic vesicle  early endosome membrane  endocytic recycling  endocytic recycling  intracellular membrane-bounded organelle  cadherin binding  perinuclear region of cytoplasm  positive regulation of peptidyl-tyrosine phosphorylation  protein homooligomerization  recycling endosome membrane  recycling endosome membrane  cilium assembly  extracellular exosome  cellular response to growth factor stimulus  protein localization to plasma membrane  
Ontology : EGO-EBInucleic acid binding  calcium ion binding  protein binding  ATP binding  GTP binding  nucleus  cytoplasm  early endosome  endoplasmic reticulum  plasma membrane  plasma membrane  endocytosis  pinocytosis  membrane  endosomal transport  regulation of endocytosis  endocytic vesicle  early endosome membrane  endocytic recycling  endocytic recycling  intracellular membrane-bounded organelle  cadherin binding  perinuclear region of cytoplasm  positive regulation of peptidyl-tyrosine phosphorylation  protein homooligomerization  recycling endosome membrane  recycling endosome membrane  cilium assembly  extracellular exosome  cellular response to growth factor stimulus  protein localization to plasma membrane  
NDEx NetworkEHD4
Atlas of Cancer Signalling NetworkEHD4
Wikipedia pathwaysEHD4
Orthology - Evolution
OrthoDB30844
GeneTree (enSembl)ENSG00000103966
Phylogenetic Trees/Animal Genes : TreeFamEHD4
Homologs : HomoloGeneEHD4
Homology/Alignments : Family Browser (UCSC)EHD4
Gene fusions - Rearrangements
Fusion : QuiverEHD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEHD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EHD4
dbVarEHD4
ClinVarEHD4
MonarchEHD4
1000_GenomesEHD4 
Exome Variant ServerEHD4
GNOMAD BrowserENSG00000103966
Varsome BrowserEHD4
ACMGEHD4 variants
VarityQ9H223
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]  
Somatic Mutations in Cancer : COSMIC3DEHD4
Mutations and Diseases : HGMDEHD4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEHD4
DgiDB (Drug Gene Interaction Database)EHD4
DoCM (Curated mutations)EHD4
CIViC (Clinical Interpretations of Variants in Cancer)EHD4
Cancer3DEHD4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605892   
Orphanet
DisGeNETEHD4
MedgenEHD4
Genetic Testing Registry EHD4
NextProtQ9H223 [Medical]
GENETestsEHD4
Target ValidationEHD4
Huge Navigator EHD4 [HugePedia]
ClinGenEHD4
Clinical trials, drugs, therapy
MyCancerGenomeEHD4
Protein Interactions : CTDEHD4
Pharm GKB GenePA27680
PharosQ9H223
Clinical trialEHD4
Miscellaneous
canSAR (ICR)EHD4
HarmonizomeEHD4
ARCHS4EHD4
DataMed IndexEHD4
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEHD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 13:17:35 CET 2022

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