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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
  • Ortholog Of Rat Pincher 3
  • EH-Domain Containing 4 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 Endocytosis and Neurotrophic factor-mediated Trk receptor signaling. GO annotations related to this gene include nucleic acid binding and GTP binding. An important paralog of this gene is ITSN1.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around EHD4 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for EHD4 Gene at MOPED

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
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

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
Jensen Localization Image for EHD4 Gene COMPARTMENTS Subcellular localization image for EHD4 gene
Compartment Confidence
endosome 5
extracellular 5
nucleus 5
endoplasmic reticulum 4
plasma membrane 4
cytosol 3

Gene Ontology (GO) - Cellular Components for EHD4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0048471 perinuclear region of cytoplasm IEA --
GO:0070062 extracellular exosome IDA 19056867
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

None

No data available for SIGNOR curated interactions for EHD4 Gene

Drugs & Compounds for EHD4 Gene

No Compound Related Data Available

Transcripts for EHD4 Gene

mRNA/cDNA for EHD4 Gene

Unigene Clusters for EHD4 Gene

EH-domain containing 4:
Representative Sequences:

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 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, MOPED, and MaxQB for EHD4 Gene



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

Protein tissue co-expression partners for EHD4 Gene

- Elite partner

Primer Products

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia EHD4 35
  • 91.17 (n)
  • 94.81 (a)
EHD4 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHD4 35
  • 92.91 (n)
  • 98.52 (a)
EHD4 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehd4 35
  • 90.76 (n)
  • 97.04 (a)
Ehd4 16
Ehd4 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHD4 35
  • 99.82 (n)
  • 99.82 (a)
EHD4 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehd4 35
  • 89.9 (n)
  • 97.23 (a)
oppossum
(Monodelphis domestica)
Mammalia EHD4 36
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHD4 36
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859860 35
  • 77.07 (n)
  • 89.45 (a)
EHD4 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EHD4 36
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ehd4 35
  • 74.08 (n)
  • 85.05 (a)
zebrafish
(Danio rerio)
Actinopterygii im:7147183 35
  • 71.31 (n)
  • 77.32 (a)
EHD4 36
  • 67 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Past1 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 37
  • 65 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.1591 35
corn
(Zea mays)
Liliopsida Zm.3719 35
Species with no ortholog for EHD4:
  • 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
rs11549015 - 41,943,118(-) TCAGC(A/G)TCATC reference, missense
rs5812208 -- 41,914,058(+) GTGTG(-/TGTG)CCTCC intron-variant
rs5812209 -- 41,948,019(+) TGGGA(-/G)GCCAA intron-variant
rs6493011 -- 41,914,806(+) TTTGA(A/G)ATGGA intron-variant
rs6493013 -- 41,932,626(+) GATTA(C/T)GGCAA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv904116 CNV Loss 21882294
dgv2364n71 CNV Loss 21882294
nsv9244 CNV Gain 18304495
dgv2366n71 CNV Loss 21882294
nsv904129 CNV Loss 21882294
nsv519577 CNV Loss 19592680
esv273033 CNV Insertion 20981092

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

HapMap Linkage Disequilibrium report
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 67
  2. Characterization of EHD4, an EH domain-containing protein expressed in the extracellular matrix. (PMID: 11533061) Kuo H.J. … Glanville R.W. (J. Biol. Chem. 2001) 2 3
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. Quantitative Proteomics Reveals Dynamic Interactions of the Minichromosome Maintenance Complex (MCM) in the Cellular Response to Etoposide Induced DNA Damage. (PMID: 25963833) Drissi R. … Boisvert F.M. (Mol. Cell Proteomics 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for EHD4 Gene

Sources for EHD4 Gene

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