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Aliases for EHD4 Gene

Aliases for EHD4 Gene

  • EH Domain Containing 4 2 3 5
  • Hepatocellular Carcinoma-Associated Protein 10/11 3 4
  • PAST Homolog 4 3 4
  • PAST4 3 4
  • Hepatocellular Carcinoma-Associated Protein HCA11 3
  • EH Domain-Containing Protein 4 3
  • Ortholog Of Rat Pincher 3
  • HCA10 4
  • HCA11 4

External Ids for EHD4 Gene

Previous HGNC Symbols for EHD4 Gene

  • PAST4

Previous GeneCards Identifiers for EHD4 Gene

  • GC15M037559
  • GC15M035087
  • GC15M039770
  • GC15M039907
  • GC15M039978
  • GC15M042190
  • GC15M019040

Summaries for EHD4 Gene

GeneCards Summary for EHD4 Gene

EHD4 (EH Domain Containing 4) is a Protein Coding gene. Among its related pathways are Neurotrophic factor-mediated Trk receptor signaling and Trk receptor signaling mediated by the MAPK pathway. GO annotations related to this gene include nucleic acid binding and GTP binding. An important paralog of this gene is EHD3.

UniProtKB/Swiss-Prot for EHD4 Gene

  • ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport.

Gene Wiki entry for EHD4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHD4 Gene

Genomics for EHD4 Gene

Regulatory Elements for EHD4 Gene

Enhancers for EHD4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15F041925 1.7 FANTOM5 Ensembl ENCODE 33.3 +35.8 35753 23.4 HDGF PKNOX1 WRNIP1 ARID4B SIN3A FEZF1 BRCA1 YY1 GATA2 ZNF143 SPTBN5 EHD4 LOC105370792 LTK JMJD7 PLA2G4E-AS1 ENSG00000250379 JMJD7-PLA2G4B MAPKBP1 PLA2G4E
GH15F041965 1.4 FANTOM5 ENCODE 15.2 +3.0 3012 7.7 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS EHD4 MAPKBP1 PLA2G4F JMJD7 VPS39 MGA GC15M041951
GH15F041913 1.3 Ensembl ENCODE 11.2 +54.8 54815 8.9 HDGF PKNOX1 ATF1 ZFP64 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF143 SPTBN5 CDAN1 LOC105370792 ENSG00000260814 EHD4 PLA2G4E-AS1 MAPKBP1 TYRO3 RPAP1 LOC105370795
GH15F041401 1.2 ENCODE 9.9 +570.1 570079 1.6 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 ZNF143 NDUFAF1 DNAJC17 GANC CHST14 LOC105370795 RAD51-AS1 ENSG00000259211 BAHD1 RPAP1 EHD4-AS1
GH15F042066 1.1 Ensembl ENCODE 10.7 -94.0 -94023 0.8 MLX THRB ZNF48 RAD21 RARA CREM ZNF654 SP5 MXD4 REST PLA2G4D PLA2G4F EHD4 PLA2G4E-AS1 PLA2G4E
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EHD4 on UCSC Golden Path with GeneCards custom track

Promoters for EHD4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000020671 678 3001 PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF143 ZNF207 FOS DEK SP3

Genomic Location for EHD4 Gene

Chromosome:
15
Start:
41,895,939 bp from pter
End:
41,972,578 bp from pter
Size:
76,640 bases
Orientation:
Minus strand

Genomic View for EHD4 Gene

Genes around EHD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHD4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHD4 Gene

Proteins for EHD4 Gene

  • Protein details for EHD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H223-EHD4_HUMAN
    Recommended name:
    EH domain-containing protein 4
    Protein Accession:
    Q9H223
    Secondary Accessions:
    • Q9HAR1
    • Q9NZN2

    Protein attributes for EHD4 Gene

    Size:
    541 amino acids
    Molecular mass:
    61175 Da
    Quaternary structure:
    • Homooligomer, and heterooligomer with EHD1, EHD2 and EHD3.

neXtProt entry for EHD4 Gene

Post-translational modifications for EHD4 Gene

  • Ubiquitination at Lys 35
  • Modification sites at PhosphoSitePlus

Other Protein References for EHD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHD4 Gene

Domains & Families for EHD4 Gene

Gene Families for EHD4 Gene

Suggested Antigen Peptide Sequences for EHD4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H223

UniProtKB/Swiss-Prot:

EHD4_HUMAN :
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
Domain:
  • The EH domain interacts with Asn-Pro-Phe (NPF) motifs of target proteins.
  • Contains 1 dynamin-type G (guanine nucleotide-binding) domain.
  • Contains 1 EF-hand domain.
  • Contains 1 EH domain.
Family:
  • Belongs to the TRAFAC class dynamin-like GTPase superfamily. Dynamin/Fzo/YdjA family. EHD subfamily.
genes like me logo Genes that share domains with EHD4: view

Function for EHD4 Gene

Molecular function for EHD4 Gene

UniProtKB/Swiss-Prot Function:
ATP- and membrane-binding protein that probably controls membrane reorganization/tubulation upon ATP hydrolysis. Plays a role in early endosomal transport.

Gene Ontology (GO) - Molecular Function for EHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 10673336
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17233914
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with EHD4: view
genes like me logo Genes that share phenotypes with EHD4: view

Animal Models for EHD4 Gene

MGI Knock Outs for EHD4:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EHD4 Gene

Localization for EHD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHD4 Gene

Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EHD4 gene
Compartment Confidence
extracellular 5
nucleus 5
endosome 5
plasma membrane 4
endoplasmic reticulum 4
cytosol 3

Gene Ontology (GO) - Cellular Components for EHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10673336
GO:0005768 endosome IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005886 plasma membrane IEA --
GO:0005913 cell-cell adherens junction IDA 25468996
genes like me logo Genes that share ontologies with EHD4: view

Pathways & Interactions for EHD4 Gene

genes like me logo Genes that share pathways with EHD4: view

Pathways by source for EHD4 Gene

Gene Ontology (GO) - Biological Process for EHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006907 pinocytosis IEA --
GO:0030100 regulation of endocytosis IEA --
GO:0032456 endocytic recycling IGI 17233914
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA --
GO:0051260 protein homooligomerization IPI 17233914
genes like me logo Genes that share ontologies with EHD4: view

No data available for SIGNOR curated interactions for EHD4 Gene

Transcripts for EHD4 Gene

mRNA/cDNA for EHD4 Gene

Unigene Clusters for EHD4 Gene

EH-domain containing 4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EHD4 Gene

No ASD Table

Relevant External Links for EHD4 Gene

GeneLoc Exon Structure for
EHD4
ECgene alternative splicing isoforms for
EHD4

Expression for EHD4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EHD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EHD4 Gene

This gene is overexpressed in Uterus (9.9) and Adipocyte (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EHD4 Gene



Protein tissue co-expression partners for EHD4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHD4 Gene:

EHD4

SOURCE GeneReport for Unigene cluster for EHD4 Gene:

Hs.143703

mRNA Expression by UniProt/SwissProt for EHD4 Gene:

Q9H223-EHD4_HUMAN
Tissue specificity: Highly expressed in pancreas and heart.
genes like me logo Genes that share expression patterns with EHD4: view

No data available for mRNA differential expression in normal tissues for EHD4 Gene

Orthologs for EHD4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHD4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHD4 34 35
  • 99.82 (n)
oppossum
(Monodelphis domestica)
Mammalia EHD4 35
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHD4 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHD4 34 35
  • 92.91 (n)
cow
(Bos Taurus)
Mammalia EHD4 34 35
  • 91.17 (n)
mouse
(Mus musculus)
Mammalia Ehd4 34 16 35
  • 90.76 (n)
rat
(Rattus norvegicus)
Mammalia Ehd4 34
  • 89.9 (n)
chicken
(Gallus gallus)
Aves EHD4 35
  • 89 (a)
OneToOne
LOC100859860 34
  • 77.07 (n)
lizard
(Anolis carolinensis)
Reptilia EHD4 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehd4 34
  • 74.08 (n)
zebrafish
(Danio rerio)
Actinopterygii im:7147183 34
  • 71.31 (n)
EHD4 35
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Past1 36
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 36
  • 65 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1591 34
corn
(Zea mays)
Liliopsida Zm.3719 34
Species where no ortholog for EHD4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EHD4 Gene

ENSEMBL:
Gene Tree for EHD4 (if available)
TreeFam:
Gene Tree for EHD4 (if available)

Paralogs for EHD4 Gene

Paralogs for EHD4 Gene

(4) SIMAP similar genes for EHD4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EHD4: view

Variants for EHD4 Gene

Sequence variations from dbSNP and Humsavar for EHD4 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs1002774 -- 41,969,583(-) AAGTC(C/T)ATTTG intron-variant
rs1025226 -- 41,922,027(+) TGTGA(A/C)AAATT intron-variant
rs1025227 -- 41,922,484(+) GTTCC(A/G)AAAGA intron-variant
rs1030417 -- 41,923,820(+) AGAAC(G/T)GAAAC intron-variant
rs1030418 -- 41,923,833(+) GCTTA(C/T)CTGAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EHD4 Gene

Variant ID Type Subtype PubMed ID
dgv2582n100 CNV gain 25217958
esv3337468 CNV insertion 20981092
esv3636252 CNV loss 21293372
nsv1035998 CNV gain 25217958
nsv1038933 CNV gain 25217958
nsv1122955 CNV deletion 24896259
nsv519577 CNV loss 19592680
nsv9244 CNV gain 18304495

Variation tolerance for EHD4 Gene

Residual Variation Intolerance Score: 8.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.99; 68.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHD4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHD4 Gene

Disorders for EHD4 Gene

Relevant External Links for EHD4

Genetic Association Database (GAD)
EHD4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHD4

No disorders were found for EHD4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EHD4 Gene

Publications for EHD4 Gene

  1. EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. (PMID: 10673336) Pohl U. … Louis D.N. (Genomics 2000) 2 3 4 64
  2. A role for EHD4 in the regulation of early endosomal transport. (PMID: 18331452) Sharma M. … Caplan S. (Traffic 2008) 3 4 64
  3. Shared as well as distinct roles of EHD proteins revealed by biochemical and functional comparisons in mammalian cells and C. elegans. (PMID: 17233914) George M. … Band H. (BMC Cell Biol. 2007) 3 4 64
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J. … Comb M.J. (Nat. Biotechnol. 2005) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for EHD4 Gene

Sources for EHD4 Gene

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