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Aliases for EVL Gene

Aliases for EVL Gene

  • Enah/Vasp-Like 2 3 5
  • Ena/Vasodilator-Stimulated Phosphoprotein-Like 3 4
  • RNB6 3 4
  • Ena/VASP-Like Protein 3

External Ids for EVL Gene

Previous GeneCards Identifiers for EVL Gene

  • GC14P094253
  • GC14P098428
  • GC14P098521
  • GC14P099601
  • GC14P100990
  • GC14P100999
  • GC14P080713
  • GC14P101018
  • GC14P101029
  • GC14P101045
  • GC14P101073
  • GC14P101110
  • GC14P101159
  • GC14P101219

Summaries for EVL Gene

GeneCards Summary for EVL Gene

EVL (Enah/Vasp-Like) is a Protein Coding gene. Diseases associated with EVL include Vein Disease. Among its related pathways are Cytoskeletal Signaling and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding and profilin binding. An important paralog of this gene is ENAH.

UniProtKB/Swiss-Prot for EVL Gene

  • Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.

Gene Wiki entry for EVL Gene

Additional gene information for EVL Gene

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

Genomics for EVL Gene

GeneHancer (GH) Regulatory Elements for EVL Gene

Promoters and enhancers for EVL 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
GH14J100062 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 664.9 +98.8 98768 15.2 HDGF PKNOX1 SMAD1 ARNT SIN3A YBX1 IRF4 ZNF766 E2F8 ZNF207 EVL MIR342 DEGS2 VDAC3P1 WARS YY1 ENSG00000258560 GC14M100046
GH14J099970 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.6 584 2.3 PKNOX1 SIN3A DMAP1 ZNF766 GLIS2 RXRA SP5 MXD4 REST SMARCA4 EVL YY1 RPS2P3
GH14J100078 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +110.4 110374 7.4 HDAC1 MEIS2 CTCF PKNOX1 EBF1 ZIC2 GATA3 CTBP1 GATA2 ZNF600 MIR342 EVL NDUFB3P4 YY1 ENSG00000258560 GC14P100099
GH14J100192 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 6 +221.6 221635 1.9 HDGF FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 E2F8 GC14M100190 GC14M100192 GC14M100193 CCNK DEGS2 YY1 MIR342 ENSG00000258666 EVL SLC25A29
GH14J099736 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 4.8 -232.7 -232693 4.4 NCOA3 CLOCK NFIB ZSCAN4 SIN3A ZIC2 ZNF507 HIC1 GATA3 GLIS2 EML1 EVL GC14P099742
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EVL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EVL gene promoter:
  • GR-alpha
  • GR
  • FOXJ2 (long isoform)
  • FOXJ2
  • TFIID
  • TBP
  • IRF-7A
  • Chx10

Genomic Locations for EVL Gene

Genomic Locations for EVL Gene
chr14:99,971,449-100,144,236
(GRCh38/hg38)
Size:
172,788 bases
Orientation:
Plus strand
chr14:100,437,786-100,610,573
(GRCh37/hg19)
Size:
172,788 bases
Orientation:
Plus strand

Genomic View for EVL Gene

Genes around EVL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EVL Gene

Proteins for EVL Gene

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

    Protein Symbol:
    Q9UI08-EVL_HUMAN
    Recommended name:
    Ena/VASP-like protein
    Protein Accession:
    Q9UI08
    Secondary Accessions:
    • A8K105
    • B7Z3I5
    • O95884
    • Q7Z522
    • Q8TBV1
    • Q9UF25
    • Q9UIC2

    Protein attributes for EVL Gene

    Size:
    416 amino acids
    Molecular mass:
    44620 Da
    Quaternary structure:
    • Homotetramer (By similarity). Binds to the SH3 domains of ABL1, LYN and SRC. Also binds to profilin, with preference for isoform IIa of PFN2, and the WW domain of APBB1/FE65. Binds to SEMA6A. Interacts, via the Pro-rich region, with the C-terminal SH3 domain of DNMBP. Interacts with RAPH1. Binds, via the EVH1 domain, the Pro-rich domain of Listeria monocytogenes actA (By similarity). Binds, via the EVH1 domain, the Pro-rich domain of ZYX. Interacts with FYB1 (PubMed:10747096). Interacts with ZDHHC17 (PubMed:28882895).
    Miscellaneous:
    • Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes.

    Alternative splice isoforms for EVL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EVL Gene

Post-translational modifications for EVL Gene

  • Phosphorylated by PKA; phosphorylation abolishes binding to SH3 domains of ABL and SRC.
  • Ubiquitination at Lys27
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for EVL Gene

Domains & Families for EVL Gene

Gene Families for EVL Gene

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

Protein Domains for EVL Gene

Graphical View of Domain Structure for InterPro Entry

Q9UI08

UniProtKB/Swiss-Prot:

EVL_HUMAN :
  • The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.
  • Belongs to the Ena/VASP family.
Domain:
  • The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.
Family:
  • Belongs to the Ena/VASP family.
genes like me logo Genes that share domains with EVL: view

Function for EVL Gene

Molecular function for EVL Gene

UniProtKB/Swiss-Prot Function:
Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.

Phenotypes From GWAS Catalog for EVL Gene

Gene Ontology (GO) - Molecular Function for EVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 10993894
GO:0005522 profilin binding IEA,ISS --
GO:0017124 SH3 domain binding ISS --
genes like me logo Genes that share ontologies with EVL: view
genes like me logo Genes that share phenotypes with EVL: view

Animal Models for EVL Gene

MGI Knock Outs for EVL:
  • Evl Evl<tm1Fbg>
  • Evl Evl<tm1b(KOMP)Wtsi>
  • Evl Evl<tm1Lfr>

Animal Model Products

CRISPR Products

miRNA for EVL Gene

miRTarBase miRNAs that target EVL

Inhibitory RNA Products

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

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

Localization for EVL Gene

Subcellular locations from UniProtKB/Swiss-Prot for EVL Gene

Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Note=Targeted to the leading edge of lamellipodia and the dital tip of stress fibers through interaction with a number of proteins. In activated T-cells, localizes to the F-actin collar and the distal tip of microspikes. {ECO:0000250 UniProtKB:P70429}.

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 EVL gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IEA,ISS --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with EVL: view

Pathways & Interactions for EVL Gene

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

Pathways by source for EVL Gene

1 Cell Signaling Technology pathway for EVL Gene

Gene Ontology (GO) - Biological Process for EVL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization TAS 9268706
GO:0007166 cell surface receptor signaling pathway NAS 10993894
GO:0007399 nervous system development NAS 10993894
GO:0007411 axon guidance TAS --
GO:0008154 actin polymerization or depolymerization IEA,ISS --
genes like me logo Genes that share ontologies with EVL: view

No data available for SIGNOR curated interactions for EVL Gene

Drugs & Compounds for EVL Gene

No Compound Related Data Available

Transcripts for EVL Gene

Unigene Clusters for EVL Gene

Enah/Vasp-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - - - - -
SP8: - - - - - - - - - -
SP9: -
SP10: - - -
SP11: - - - - - -
SP12: - - - - - - -
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18: - -
SP19: -

ExUns: 17b ^ 18a · 18b · 18c · 18d ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b
SP1: - - - - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: - - - - -
SP14: -
SP15: -
SP16:
SP17:
SP18:
SP19:

Relevant External Links for EVL Gene

GeneLoc Exon Structure for
EVL
ECgene alternative splicing isoforms for
EVL

Expression for EVL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EVL Gene

This gene is overexpressed in Lymph node (21.1), Peripheral blood mononuclear cells (9.2), Tlymphocyte (7.5), CD8 Tcells (6.8), and NK cells (6.4).

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



Protein tissue co-expression partners for EVL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EVL Gene:

EVL

SOURCE GeneReport for Unigene cluster for EVL Gene:

Hs.125867

Evidence on tissue expression from TISSUES for EVL Gene

  • Nervous system(4.9)
  • Lung(4.6)
  • Blood(4.4)
  • Liver(4.4)
  • Pancreas(4.4)
  • Adrenal gland(4.3)
  • Eye(3.1)
  • Heart(2.4)
  • Intestine(2.3)
  • Kidney(2.3)
  • Lymph node(2.2)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with EVL: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EVL Gene

Orthologs for EVL Gene

This gene was present in the common ancestor of animals.

Orthologs for EVL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EVL 34 33
  • 99.36 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EVL 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EVL 34 33
  • 91.23 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EVL 34 33
  • 90.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Evl 16 34 33
  • 89.83 (n)
oppossum
(Monodelphis domestica)
Mammalia EVL 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EVL 34 33
  • 76.34 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EVL 34
  • 48 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii evlb 34
  • 60 (a)
OneToMany
evla 34
  • 40 (a)
OneToMany
idibd2260 33
fruit fly
(Drosophila melanogaster)
Insecta ena 34
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-34 34
  • 25 (a)
OneToMany
Species where no ortholog for EVL was found in the sources mined by GeneCards:
  • 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)
  • barley (Hordeum vulgare)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EVL Gene

ENSEMBL:
Gene Tree for EVL (if available)
TreeFam:
Gene Tree for EVL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EVL: view image

Paralogs for EVL Gene

Paralogs for EVL Gene

(5) SIMAP similar genes for EVL Gene using alignment to 10 proteins:

  • EVL_HUMAN
  • B7Z3I5_HUMAN
  • G3V2K5_HUMAN
  • G3V314_HUMAN
  • G3V3G2_HUMAN
  • G3V535_HUMAN
  • G3V5F7_HUMAN
  • H0YJL6_HUMAN
  • H0YJN0_HUMAN
  • Q499Z9_HUMAN
genes like me logo Genes that share paralogs with EVL: view

Variants for EVL Gene

Sequence variations from dbSNP and Humsavar for EVL Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs367737727 A colorectal cancer sample 100,128,600(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
VAR_036465 A colorectal cancer sample p.Pro247Leu
rs1000001169 -- 100,091,048(+) A/G intron_variant
rs1000017650 -- 100,117,818(+) T/C intron_variant
rs1000028019 -- 100,117,965(+) A/T intron_variant

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

Variant ID Type Subtype PubMed ID
dgv142n21 CNV loss 19592680
dgv1969n100 CNV gain 25217958
esv3635495 CNV loss 21293372
nsv524413 CNV loss 19592680
nsv526793 CNV loss 19592680
nsv527130 CNV loss 19592680
nsv565733 CNV gain 21841781
nsv832874 CNV loss 17160897
nsv952237 CNV duplication 24416366
nsv952238 CNV deletion 24416366

Variation tolerance for EVL Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EVL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EVL

SNP Genotyping and Copy Number Assay Products

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

Disorders for EVL Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
vein disease
  • disorder of vein
- elite association - COSMIC cancer census association via MalaCards
Search EVL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EVL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EVL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EVL Gene

Publications for EVL Gene

  1. The orthologous human and murine semaphorin 6A-1 proteins (SEMA6A-1/Sema6A-1) bind to the enabled/vasodilator-stimulated phosphoprotein-like protein (EVL) via a novel carboxyl-terminal zyxin-like domain. (PMID: 10993894) Klostermann A … Behl C (The Journal of biological chemistry 2000) 2 3 4 22 58
  2. Peptide array-based screening reveals a large number of proteins interacting with the ankyrin-repeat domain of the zDHHC17 S-acyltransferase. (PMID: 28882895) Lemonidis K … Chamberlain LH (The Journal of biological chemistry 2017) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for EVL Gene

Sources for EVL Gene

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