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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 Factors involved in megakaryocyte development and platelet production and Endocytosis. 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).

Gene Wiki entry for EHD2 Gene

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

Genomics for EHD2 Gene

Regulatory Elements for EHD2 Gene

Enhancers for EHD2 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
GH19F047239 0.9 FANTOM5 Ensembl ENCODE 26.6 -471.1 -471143 6.4 CREB3L1 ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF416 ZNF548 ZNF263 ZC3H4 GLTSCR1 ENSG00000268810 ENSG00000269321 CCDC9 GLTSCR2-AS1 EHD2 SLC1A5 PRKD2 TPRX2P
GH19F047896 0.6 ENCODE 26.2 +183.5 183486 1.1 HDGF ATF1 PKNOX1 CREB3L1 ARID4B SIN3A ZNF2 ZNF143 SP3 YY2 EHD2 GRWD1 PLEKHA4 KDELR1 SNAR-A12 SULT2A1
GH19F046848 1.1 ENCODE 26.2 -863.4 -863442 3.3 PKNOX1 ARNT MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZC3H4 ENSG00000268810 CCDC61 EHD2 IRF2BP1 PRKD2 GLTSCR1 SNORD23 STRN4 FKRP
GH19F048612 0.2 ENCODE 26.2 +903.4 903420 7.8 CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 KDELR1 GRWD1 PRR12 SNORD35A ENSG00000269321 ALDH16A1 SNORD35B TEAD2 RPS11 RPL18
GH19F047483 0.2 ENCODE 26.1 -228.7 -228676 2.4 HDGF ARNT CREB3L1 SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143 KLF13 EHD2 GRWD1 KDELR1 GLTSCR1 ENSG00000268746 ZC3H4 GLTSCR2-AS1 INAFM1 KPTN NAPA-AS1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around EHD2 on UCSC Golden Path with GeneCards custom track

Promoters for EHD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000347838 758 2200 HDGF PKNOX1 ZFP64 SIN3A ZNF48 GTF3C2 KLF13 ZNF202 ZNF263 REST

Genomic Location for EHD2 Gene

Chromosome:
19
Start:
47,713,343 bp from pter
End:
47,743,134 bp from pter
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).

    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

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.
  • 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 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).

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

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EHD2

Flow Cytometry Products

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
Jensen Localization Image for EHD2 Gene COMPARTMENTS Subcellular localization image for EHD2 gene
Compartment Confidence
cytosol 5
endosome 5
extracellular 5
plasma membrane 5
nucleus 4
cytoskeleton 1
mitochondrion 1

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:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EHD2

Flow Cytometry Products

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 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.
genes like me logo Genes that share expression patterns with EHD2: view

Primer Products

No data available for mRNA differential expression in normal tissues 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 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia EHD2 34 35
  • 92.94 (n)
cow
(Bos Taurus)
Mammalia EHD2 34 35
  • 92.39 (n)
rat
(Rattus norvegicus)
Mammalia Ehd2 34
  • 87.85 (n)
mouse
(Mus musculus)
Mammalia Ehd2 34 16 35
  • 87.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EHD2 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 84 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ehd2 34
  • 72 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64266 34
zebrafish
(Danio rerio)
Actinopterygii ehd2 34 35
  • 74.81 (n)
EHD2 (1 of 2) 35
  • 68 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Past1 36
  • 48 (a)
worm
(Caenorhabditis elegans)
Secernentea rme-1 36
  • 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 Sequence Context AA Info Type
rs10402801 -- 47,737,423(+) aggcc(A/G)aggcg intron-variant
rs10405280 -- 47,738,915(+) CCAAG(C/T)CCACC intron-variant
rs10410813 -- 47,731,303(+) atata(C/T)atata intron-variant
rs10411441 -- 47,730,870(+) TGTGG(C/T)ACTCC intron-variant
rs10411681 -- 47,740,252(+) GTCCC(A/G)GCGAA 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)

Relevant External Links for EHD2 Gene

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

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

Disorders for EHD2 Gene

Relevant External Links for EHD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 D.N. (Genomics 2000) 2 3 4 64
  2. 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
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 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 EHD2 Gene

Sources for EHD2 Gene

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