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Aliases for EHD3 Gene

Aliases for EHD3 Gene

  • EH Domain Containing 3 2 3 5
  • PAST Homolog 3 3 4
  • PAST3 3 4
  • EH-Domain Containing 3 3
  • EHD2 4

External Ids for EHD3 Gene

Previous HGNC Symbols for EHD3 Gene

  • PAST3

Previous GeneCards Identifiers for EHD3 Gene

  • GC02P031380
  • GC02P031564
  • GC02P031431
  • GC02P031368
  • GC02P031310
  • GC02P031194
  • GC02P031456

Summaries for EHD3 Gene

GeneCards Summary for EHD3 Gene

EHD3 (EH Domain Containing 3) is a Protein Coding gene. Among its related pathways are Endocytosis and Factors involved in megakaryocyte development and platelet production. 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 EHD3 Gene

  • ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). Plays a role in endocytic transport (PubMed:16251358, PubMed:17233914). Also plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis (PubMed:25686250).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHD3 Gene

Genomics for EHD3 Gene

Regulatory Elements for EHD3 Gene

Enhancers for EHD3 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 EHD3 on UCSC Golden Path with GeneCards custom track

Promoters for EHD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EHD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for EHD3 Gene

Chromosome:
2
Start:
31,234,014 bp from pter
End:
31,269,451 bp from pter
Size:
35,438 bases
Orientation:
Plus strand

Genomic View for EHD3 Gene

Genes around EHD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHD3 Gene

Proteins for EHD3 Gene

  • Protein details for EHD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZN3-EHD3_HUMAN
    Recommended name:
    EH domain-containing protein 3
    Protein Accession:
    Q9NZN3
    Secondary Accessions:
    • B4DFR5
    • D6W574
    • Q8N514
    • Q9NZB3

    Protein attributes for EHD3 Gene

    Size:
    535 amino acids
    Molecular mass:
    60887 Da
    Quaternary structure:
    • Homooligomer, and heterooligomer with EHD1, EHD2 and EHD4, ATP-binding is required for heterooligomerization (PubMed:16251358, PubMed:17233914). Interacts with PACSIN1 (By similarity). Interacts with PACSIN2 (By similarity). Interacts (via EH domain) with MICALL1 (PubMed:19864458). Interacts (via EH domain) with RAB11FIP2 (PubMed:16251358).
    SequenceCaution:
    • Sequence=AAF40471.1; Type=Frameshift; Positions=527; Evidence={ECO:0000305};

    Alternative splice isoforms for EHD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHD3 Gene

Proteomics data for EHD3 Gene at MOPED

Post-translational modifications for EHD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHD3 Gene

Domains & Families for EHD3 Gene

Gene Families for EHD3 Gene

Suggested Antigen Peptide Sequences for EHD3 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NZN3

UniProtKB/Swiss-Prot:

EHD3_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 EHD3: view

Function for EHD3 Gene

Molecular function for EHD3 Gene

UniProtKB/Swiss-Prot Function:
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (PubMed:25686250). Plays a role in endocytic transport (PubMed:16251358, PubMed:17233914). Also plays a role in the formation of the ciliary vesicle, an early step in cilium biogenesis (PubMed:25686250).

Gene Ontology (GO) - Molecular Function for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding TAS 10673336
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with EHD3: view
genes like me logo Genes that share phenotypes with EHD3: view

Animal Models for EHD3 Gene

MGI Knock Outs for EHD3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EHD3 Gene

Localization for EHD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHD3 Gene

Recycling endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, cilium membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localizes to the ciliary pocket from where the cilium protrudes. {ECO:0000269 PubMed:25686250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EHD3 Gene COMPARTMENTS Subcellular localization image for EHD3 gene
Compartment Confidence
endosome 5
nucleus 5
plasma membrane 5
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,ISS --
GO:0005829 cytosol IMP 19139087
GO:0005925 focal adhesion IDA 21423176
GO:0043209 myelin sheath IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with EHD3: view

Pathways & Interactions for EHD3 Gene

genes like me logo Genes that share pathways with EHD3: view

Pathways by source for EHD3 Gene

Gene Ontology (GO) - Biological Process for EHD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0034498 early endosome to Golgi transport IMP 19139087
GO:0042384 cilium assembly IMP 25686250
GO:0072661 protein targeting to plasma membrane IEA,IGI 20489164
GO:0086036 regulation of cardiac muscle cell membrane potential IEA,IGI 20489164
GO:0090160 Golgi to lysosome transport IMP 19139087
genes like me logo Genes that share ontologies with EHD3: view

No data available for SIGNOR curated interactions for EHD3 Gene

Drugs & Compounds for EHD3 Gene

No Compound Related Data Available

Transcripts for EHD3 Gene

mRNA/cDNA for EHD3 Gene

Unigene Clusters for EHD3 Gene

EH-domain containing 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EHD3 Gene

No ASD Table

Relevant External Links for EHD3 Gene

GeneLoc Exon Structure for
EHD3
ECgene alternative splicing isoforms for
EHD3

Expression for EHD3 Gene

mRNA expression in normal human tissues for EHD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EHD3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x4.6), Brain - Cortex (x4.3), and Brain - Anterior cingulate cortex (BA24) (x4.3).

Protein differential expression in normal tissues from HIPED for EHD3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.3) and Brain (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EHD3 Gene



SOURCE GeneReport for Unigene cluster for EHD3 Gene Hs.368808

mRNA Expression by UniProt/SwissProt for EHD3 Gene

Q9NZN3-EHD3_HUMAN
Tissue specificity: Highly expressed in heart and brain and moderately expressed in kidney, liver, and placenta.
genes like me logo Genes that share expression patterns with EHD3: view

Protein tissue co-expression partners for EHD3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for EHD3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EHD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EHD3 35
  • 90.97 (n)
  • 97.01 (a)
MGC139254 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EHD3 35
  • 91.78 (n)
  • 98.32 (a)
EHD3 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ehd3 35
  • 88.79 (n)
  • 97.38 (a)
Ehd3 16
Ehd3 36
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EHD3 35
  • 99.5 (n)
  • 99.81 (a)
EHD3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ehd3 35
  • 88.79 (n)
  • 97.57 (a)
oppossum
(Monodelphis domestica)
Mammalia EHD3 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EHD3 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves EHD3 35
  • 84.86 (n)
  • 96.26 (a)
EHD3 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 90 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii ehd3 35
  • 79.63 (n)
  • 92.71 (a)
ehd3 36
  • 93 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Past1 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 37
  • 69 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons EHD2 35
  • 57.78 (n)
  • 56 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.5768 35
rice
(Oryza sativa)
Liliopsida Os02g0158100 35
  • 58.75 (n)
  • 54.75 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.10232 35
Species with no ortholog for EHD3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)

Evolution for EHD3 Gene

ENSEMBL:
Gene Tree for EHD3 (if available)
TreeFam:
Gene Tree for EHD3 (if available)

Paralogs for EHD3 Gene

Paralogs for EHD3 Gene

(4) SIMAP similar genes for EHD3 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EHD3: view

Variants for EHD3 Gene

Sequence variations from dbSNP and Humsavar for EHD3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs584518 -- 31,257,034(+) GCAGC(C/T)CAGTC intron-variant
rs585440 -- 31,257,264(+) ACAGC(A/C)GCCTT intron-variant
rs585805 -- 31,269,903(-) ccact(A/G)cactc downstream-variant-500B
rs586549 -- 31,237,660(+) tcagc(A/C)tccca intron-variant
rs590557 -- 31,238,529(+) AAAAT(A/G)AACAG intron-variant

Variation tolerance for EHD3 Gene

Residual Variation Intolerance Score: 13.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EHD3 Gene

HapMap Linkage Disequilibrium report
EHD3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for EHD3 Gene

Disorders for EHD3 Gene

Relevant External Links for EHD3

Genetic Association Database (GAD)
EHD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EHD3

No disorders were found for EHD3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EHD3 Gene

Publications for EHD3 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. Early steps in primary cilium assembly require EHD1/EHD3-dependent ciliary vesicle formation. (PMID: 25686250) Lu Q. … Westlake C.J. (Nat. Cell Biol. 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. (PMID: 24026423) Shameer K. … Kullo I.J. (Hum. Genet. 2014) 3
  5. Ehd3, a regulator of vesicular trafficking, is silenced in gliomas and functions as a tumor suppressor by controlling cell cycle arrest and apoptosis. (PMID: 24306026) Chukkapalli S. … Kandouz M. (Carcinogenesis 2014) 3

Products for EHD3 Gene

Sources for EHD3 Gene

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