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Aliases for EHD2 Gene

Aliases for EHD2 Gene

  • EH Domain Containing 2 2 3 5
  • PAST Homolog 2 3 4
  • PAST2 3 4
  • EH Domain-Containing Protein 2 3

External Ids for EHD2 Gene

Previous HGNC Symbols for EHD2 Gene

  • PAST2

Previous GeneCards Identifiers for EHD2 Gene

  • GC19P048863
  • GC19P048607
  • GC19P052892
  • GC19P052908
  • GC19P048216
  • GC19P044643

Summaries for EHD2 Gene

Entrez Gene Summary for EHD2 Gene

  • This gene encodes a member of the EH domain-containing protein family. These proteins are characterized by a C-terminal EF-hand domain, a nucleotide-binding consensus site at the N terminus and a bipartite nuclear localization signal. The encoded protein interacts with the actin cytoskeleton through an N-terminal domain and also binds to an EH domain-binding protein through the C-terminal EH domain. This interaction appears to connect clathrin-dependent endocytosis to actin, suggesting that this gene product participates in the endocytic pathway. [provided by RefSeq, Jul 2008]

GeneCards Summary for EHD2 Gene

EHD2 (EH Domain Containing 2) is a Protein Coding gene. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Angiopoietin Like Protein 8 Regulatory Pathway. Gene Ontology (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 EHD2 Gene

  • ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833).

Gene Wiki entry for EHD2 Gene

Additional gene information for EHD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EHD2 Gene

Genomics for EHD2 Gene

GeneHancer (GH) Regulatory Elements for EHD2 Gene

Promoters and enhancers for EHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I047712 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.4 442 2 HDGF PKNOX1 ATF1 SIN3A ZNF48 GTF3C2 ARID2 ZNF143 ZNF263 NCOA1 EHD2 SELENOW ZNF541 DHX34 NPAS1 PIR33748 GC19M047700 ENSG00000268746
GH19I048632 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 22.4 +923.1 923134 7.8 CLOCK MLX DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF263 SP3 SEC1P DBP PRR12 SNRNP70 GRWD1 PIH1D1 ENSG00000268093 SNORD35A RPS11 NOP53-AS1
GH19I048644 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.2 +932.6 932587 2.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B POLR2B CA11 GRWD1 SNORD35A NOP53-AS1 ALDH16A1 SNORD35B PRR12 NOP53 RPS11 SNRNP70
GH19I047242 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.8 -469.6 -469552 2.5 CLOCK ZFP64 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 ZNF548 MCM3 ZC3H4 BICRA ENSG00000268810 NOP53-AS1 CCDC9 NOP53 SLC1A5 SNORD23 ENSG00000268746 EHD2
GH19I047239 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 21.2 -472.8 -472783 3.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A YBX1 ZNF2 ZBTB7B POLR2B ZC3H4 BICRA ENSG00000268810 NOP53 NOP53-AS1 CCDC9 ENSG00000268746 SLC1A5 EHD2 INAFM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EHD2 gene promoter:

Genomic Locations for EHD2 Gene

Genomic Locations for EHD2 Gene
chr19:47,713,343-47,743,134
(GRCh38/hg38)
Size:
29,792 bases
Orientation:
Plus strand
chr19:48,216,600-48,246,391
(GRCh37/hg19)

Genomic View for EHD2 Gene

Genes around EHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EHD2 Gene

Proteins for EHD2 Gene

  • Protein details for EHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZN4-EHD2_HUMAN
    Recommended name:
    EH domain-containing protein 2
    Protein Accession:
    Q9NZN4
    Secondary Accessions:
    • B2RDH9
    • B4DNU6
    • Q96CB6

    Protein attributes for EHD2 Gene

    Size:
    543 amino acids
    Molecular mass:
    61161 Da
    Quaternary structure:
    • Homodimer and homooligomer. Interacts with EHD1. May also interact with EHD3 and EHD4 (PubMed:17233914). Interacts with MYOF (PubMed:18502764). Interacts with EHBP1. Interacts with FER1L5 (via second C2 domain) (By similarity). Interacts with CAV1 in a cholesterol-dependent manner (PubMed:25588833).

    Alternative splice isoforms for EHD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EHD2 Gene

Post-translational modifications for EHD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EHD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EHD2 Gene

Domains & Families for EHD2 Gene

Gene Families for EHD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9NZN4

UniProtKB/Swiss-Prot:

EHD2_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.
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 EHD2: view

Function for EHD2 Gene

Molecular function for EHD2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
The very low intrinsic ATPase activity is increased upon interaction with liposomes.
UniProtKB/Swiss-Prot Function:
ATP- and membrane-binding protein that controls membrane reorganization/tubulation upon ATP hydrolysis (By similarity). Plays a role in membrane trafficking between the plasma membrane and endosomes (PubMed:17233914). Important for the internalization of GLUT4. Required for fusion of myoblasts to skeletal muscle myotubes. Required for normal translocation of FER1L5 to the plasma membrane (By similarity). Regulates the equilibrium between cell surface-associated and cell surface-dissociated caveolae by constraining caveolae at the cell membrane (PubMed:25588833).

Phenotypes From GWAS Catalog for EHD2 Gene

Gene Ontology (GO) - Molecular Function for EHD2 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 EHD2: view
genes like me logo Genes that share phenotypes with EHD2: view

miRNA for EHD2 Gene

miRTarBase miRNAs that target EHD2

Clone Products

  • Addgene plasmids for EHD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EHD2 Gene

Localization for EHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EHD2 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, caveola; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytosol. Note=Colocalizes with GLUT4 in intracellular tubulovesicular structures that are associated with cortical F-actin. Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes. {ECO:0000250 UniProtKB:Q8BH64}.

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 EHD2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
cytosol 5
endosome 5
nucleus 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10673336
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane ISS --
genes like me logo Genes that share ontologies with EHD2: view

Pathways & Interactions for EHD2 Gene

genes like me logo Genes that share pathways with EHD2: view

Pathways by source for EHD2 Gene

1 BioSystems pathway for EHD2 Gene
1 KEGG pathway for EHD2 Gene

Gene Ontology (GO) - Biological Process for EHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006897 endocytosis IEA --
GO:0007596 blood coagulation TAS --
GO:0030036 actin cytoskeleton organization IEA --
GO:0030866 cortical actin cytoskeleton organization IEA --
GO:0032456 endocytic recycling IGI 17233914
genes like me logo Genes that share ontologies with EHD2: view

No data available for SIGNOR curated interactions for EHD2 Gene

Drugs & Compounds for EHD2 Gene

(1) Drugs for EHD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with EHD2: view

Transcripts for EHD2 Gene

Unigene Clusters for EHD2 Gene

EH-domain containing 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for EHD2

Alternative Splicing Database (ASD) splice patterns (SP) for EHD2 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8
SP1:
SP2: - - - -
SP3:
SP4:

Relevant External Links for EHD2 Gene

GeneLoc Exon Structure for
EHD2
ECgene alternative splicing isoforms for
EHD2

Expression for EHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EHD2 Gene

This gene is overexpressed in Adipocyte (15.5), Nasopharynx (11.9), and Uterus (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EHD2 Gene



Protein tissue co-expression partners for EHD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EHD2 Gene:

EHD2

SOURCE GeneReport for Unigene cluster for EHD2 Gene:

Hs.744963

mRNA Expression by UniProt/SwissProt for EHD2 Gene:

Q9NZN4-EHD2_HUMAN
Tissue specificity: Highly expressed in heart and moderately expressed in placenta, lung, and skeletal muscle.

Evidence on tissue expression from TISSUES for EHD2 Gene

  • Nervous system(4.8)
  • Lung(4.7)
  • Pancreas(4.4)
  • Liver(4.3)
  • Kidney(2.8)
  • Muscle(2.4)
  • Skin(2.2)
  • Heart(2.1)
  • Intestine(2)
genes like me logo Genes that share expression patterns with EHD2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for EHD2 Gene

Orthologs for EHD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EHD2 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia EHD2 33 34
  • 92.94 (n)
cow
(Bos Taurus)
Mammalia EHD2 33 34
  • 92.39 (n)
rat
(Rattus norvegicus)
Mammalia Ehd2 33
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Ehd2 16 34 33
  • 87.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHD2 34
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 84 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ehd2 33
  • 72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64266 33
zebrafish
(Danio rerio)
Actinopterygii ehd2 33 34
  • 74.81 (n)
EHD2 (1 of 2) 34
  • 68 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Past1 35
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 35
  • 60 (a)
Species where no ortholog for EHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 EHD2 Gene

ENSEMBL:
Gene Tree for EHD2 (if available)
TreeFam:
Gene Tree for EHD2 (if available)

Paralogs for EHD2 Gene

Paralogs for EHD2 Gene

(4) SIMAP similar genes for EHD2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EHD2: view

Variants for EHD2 Gene

Sequence variations from dbSNP and Humsavar for EHD2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000144993 -- 47,725,122(+) G/A intron_variant
rs1000205204 -- 47,711,684(+) T/G upstream_transcript_variant
rs1000233753 -- 47,714,665(+) C/A intron_variant
rs1000242446 -- 47,731,027(+) G/A intron_variant
rs1000294815 -- 47,730,499(+) C/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EHD2 Gene

Variant ID Type Subtype PubMed ID
esv2718666 CNV deletion 23290073
esv3583446 CNV loss 25503493
esv3644558 CNV loss 21293372
nsv1058351 CNV gain 25217958
nsv1059189 CNV gain 25217958
nsv138164 CNV deletion 16902084

Variation tolerance for EHD2 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.64% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EHD2 Gene

Human Gene Mutation Database (HGMD)
EHD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EHD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EHD2 Gene

Disorders for EHD2 Gene

Additional Disease Information for EHD2

No disorders were found for EHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EHD2 Gene

Publications for EHD2 Gene

  1. EHD2, EHD3, and EHD4 encode novel members of a highly conserved family of EH domain-containing proteins. (PMID: 10673336) Pohl U … Louis DN (Genomics 2000) 2 3 4 58
  2. Cavin3 interacts with cavin1 and caveolin1 to increase surface dynamics of caveolae. (PMID: 25588833) Mohan J … Lundmark R (Journal of cell science 2015) 3 4 58
  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 biology 2007) 3 4 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for EHD2 Gene

  • Addgene plasmids for EHD2

Sources for EHD2 Gene

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