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... See more...

Aliases for EHD2 Gene

Aliases for EHD2 Gene

  • EH Domain Containing 2 2 3 5
  • EH Domain-Containing Protein 2 3 4
  • PAST Homolog 2 3 4
  • PAST2 3 4
  • EHD2 5

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. Diseases associated with EHD2 include Retinitis Pigmentosa 70. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Endocytosis. 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 Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EHD2 Gene

Genomics for EHD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EHD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EHD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EHD2

Top Transcription factor binding sites by QIAGEN in the EHD2 gene promoter:
  • ATF6
  • CREB
  • HNF-4alpha1
  • HNF-4alpha2
  • LCR-F1
  • MyoD
  • Spz1
  • STAT3

Genomic Locations for EHD2 Gene

Genomic Locations for EHD2 Gene
chr19:47,713,422-47,743,134
(GRCh38/hg38)
Size:
29,713 bases
Orientation:
Plus strand
chr19:48,216,600-48,246,391
(GRCh37/hg19)
Size:
29,792 bases
Orientation:
Plus strand

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). Interacts (via EH domain) with PACSIN2 (via NPF motifs); this interaction probably stablizes the caveolae (PubMed:22323287).

    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

Protein Domains for EHD2 Gene

Suggested Antigen Peptide Sequences for EHD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53713, highly similar to EH-domain-containing protein 2 (B4DE23_HUMAN)
  • cDNA FLJ55555, highly similar to EH-domain-containing protein 2 (B4DNU6_HUMAN)
  • cDNA, FLJ79347, highly similar to EH-domain-containing protein 2 (B7ZAY3_HUMAN)
  • PAST homolog 2 (EHD2_HUMAN)

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 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).
UniProtKB/Swiss-Prot EnzymeRegulation:
The very low intrinsic ATPase activity is increased upon interaction with liposomes.

Phenotypes From GWAS Catalog for EHD2 Gene

Gene Ontology (GO) - Molecular Function for EHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003676 nucleic acid binding TAS 10673336
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17233914
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with EHD2: view
genes like me logo Genes that share phenotypes with EHD2: view

Animal Models for EHD2 Gene

MGI Knock Outs for EHD2:
  • Ehd2 Ehd2<tm1.1Cbm>

Animal Model Products

CRISPR Products

miRNA for EHD2 Gene

miRTarBase miRNAs that target EHD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EHD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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
endosome 5
cytosol 5
extracellular 4
cytoskeleton 4
nucleus 4
mitochondrion 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 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,IBA 21873635
GO:0005768 endosome IEA --
GO:0005769 early endosome IBA 21873635
GO:0005829 cytosol 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,IBA 21873635
GO:0007596 blood coagulation TAS --
GO:0016197 endosomal transport IBA 21873635
GO:0030036 actin cytoskeleton organization IEA --
GO:0030866 cortical actin cytoskeleton organization IEA --
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

mRNA/cDNA for EHD2 Gene

1 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for EHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EHD2 Gene



Protein tissue co-expression partners for EHD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Lung(4.8)
  • Liver(4.5)
  • Pancreas(4.4)
  • Kidney(3.4)
  • Heart(3.2)
  • Skin(3.2)
  • Muscle(2.9)
  • Intestine(2.7)
  • Blood(2.3)
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 30 31
  • 99.45 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EHD2 30 31
  • 92.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EHD2 30 31
  • 92.39 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ehd2 30
  • 87.85 (n)
Mouse
(Mus musculus)
Mammalia Ehd2 30 17 31
  • 87.48 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EHD2 31
  • 85 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 84 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ehd2 30
  • 72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64266 30
Zebrafish
(Danio rerio)
Actinopterygii ehd2 30 31
  • 74.81 (n)
OneToMany
EHD2 (1 of 2) 31
  • 68 (a)
OneToMany
-- 30
Fruit Fly
(Drosophila melanogaster)
Insecta Past1 32
  • 48 (a)
Worm
(Caenorhabditis elegans)
Secernentea rme-1 32
  • 60 (a)
Species where no ortholog for EHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for EHD2: view image

Paralogs for EHD2 Gene

Paralogs for EHD2 Gene

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

  • EHD2_HUMAN
  • B4DNU6_HUMAN
  • M0R1B9_HUMAN
genes like me logo Genes that share paralogs with EHD2: view

Variants for EHD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EHD2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs34140460 - p.Gly57Ser

Additional dbSNP identifiers (rs#s) for EHD2 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for EHD2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 70
  • rp70
- elite association - COSMIC cancer census association via MalaCards
Search EHD2 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with EHD2: view

No data available for 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
  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
  3. EHD2 regulates caveolar dynamics via ATP-driven targeting and oligomerization. (PMID: 22323287) Morén B … Lundmark R (Molecular biology of the cell 2012) 3 4
  4. 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
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4

Products for EHD2 Gene

  • Signalway ELISA kits for EHD2

Sources for EHD2 Gene