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Aliases for ENAH Gene

Aliases for ENAH Gene

  • ENAH, Actin Regulator 2 3 5
  • MENA 3 4
  • Mammalian Enabled Variant 11a 3
  • Mammalian Enabled Variant Pan 3
  • Enabled Homolog (Drosophila) 2
  • Protein Enabled Homolog 3
  • Mammalian Enabled 2
  • Enabled Homolog 3
  • NDPP1 3
  • ENA 3

External Ids for ENAH Gene

Previous GeneCards Identifiers for ENAH Gene

  • GC01M224165
  • GC01M221499
  • GC01M222090
  • GC01M222657
  • GC01M222659
  • GC01M221989
  • GC01M223741
  • GC01M225674
  • GC01M196193

Summaries for ENAH Gene

Entrez Gene Summary for ENAH Gene

  • This gene encodes a member of the enabled/ vasodilator-stimulated phosphoprotein. Members of this gene family are involved in actin-based motility. This protein is involved in regulating the assembly of actin filaments and modulates cell adhesion and motility. Alternate splice variants of this gene have been correlated with tumor invasiveness in certain tissues and these variants may serve as prognostic markers. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2016]

GeneCards Summary for ENAH Gene

ENAH (ENAH, Actin Regulator) is a Protein Coding gene. Among its related pathways are Innate Immune System and Developmental Biology. Gene Ontology (GO) annotations related to this gene include actin binding and WW domain binding. An important paralog of this gene is EVL.

UniProtKB/Swiss-Prot for ENAH 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. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity).

Gene Wiki entry for ENAH Gene

Additional gene information for ENAH Gene

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

Genomics for ENAH Gene

GeneHancer (GH) Regulatory Elements for ENAH Gene

Promoters and enhancers for ENAH 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
GH01I225650 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 575.7 +7.0 6998 8.6 HDGF PKNOX1 ZFP64 SIN3A FEZF1 DMAP1 ZNF2 ZNF213 ZNF302 ZNF548 ENAH ACBD3 ACBD3-AS1 LINC01703 LBR LOC105373110 SDE2 ENSG00000272562 H3F3A
GH01I225424 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 +234.8 234793 5.5 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 NFYC ZFP41 LBR ACBD3 ACBD3-AS1 LINC01703 ENAH WDR26 SDE2 ENSG00000272562 LOC105373110 GC01M225252
GH01I225995 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 -338.6 -338622 8.8 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF548 SP3 SDE2 ACBD3 ACBD3-AS1 H3F3A LINC01703 ENAH LOC105373110 TMEM63A GC01M225948
GH01I225921 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -262.0 -261963 3.7 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 PYCR2 MIR6741 ENSG00000255835 ACBD3 ENAH SDE2 LINC01703 ACBD3-AS1 LEFTY1
GH01I226307 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.2 -647.8 -647758 3.3 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B GC01M226306 LIN9 ACBD3-AS1 H3F3A LOC105373110 ENAH LINC01703 ACBD3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENAH on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ENAH Gene

Genomic Locations for ENAH Gene
chr1:225,486,832-225,661,676
(GRCh38/hg38)
Size:
174,845 bases
Orientation:
Minus strand
chr1:225,674,534-225,840,845
(GRCh37/hg19)

Genomic View for ENAH Gene

Genes around ENAH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ENAH Gene

Proteins for ENAH Gene

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

    Protein Symbol:
    Q8N8S7-ENAH_HUMAN
    Recommended name:
    Protein enabled homolog
    Protein Accession:
    Q8N8S7
    Secondary Accessions:
    • D0PQI2
    • Q502W5
    • Q5T5M7
    • Q5VTQ9
    • Q5VTR0
    • Q9NVF3
    • Q9UFB8

    Protein attributes for ENAH Gene

    Size:
    591 amino acids
    Molecular mass:
    66510 Da
    Quaternary structure:
    • Homotetramer (By similarity). Interacts with APBB1IP, APBB1, PFN1 and ROBO4. Isoforms, containing the polyproline-rich regions with PPLP motifs, bind the WW domain of APBB1IP. Isoforms, containing the PPSY motif, bind, in vitro, to the WW2 and WW3 domains of NEDD4 and to the WW1 domain of YAP1. Binds the SH3 domain of BAIAP2-alpha but only after the autoinhibitory region of BAIAP2-alpha has been blocked by interaction with CDC42. Interacts, via the EVH1/WH1 domain, with the Pro-rich domains from VCL, ZYX and Listeria monocytogenes actA and with TES (via LIM domains). The TES LIM domain and the Pro-rich domains from VCL or ZYX compete for the same binding site. Interaction with ZYX is important for targeting ENAH to focal adhesions and enhances production of actin-rich structures at the apical surface of cells. Interacts, through the Pro-rich region, with the C-terminal SH3 domain of DNMPB. Binds GPHN (By similarity). Interacts with FAT1 (via EVH1 domains) (By similarity). Heterotrimer with TES and ACTL7A.
    Miscellaneous:
    • Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes.
    SequenceCaution:
    • Sequence=BAA91799.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC04736.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH71475.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22018.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI22020.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ENAH Gene

    Alternative splice isoforms for ENAH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ENAH Gene

Post-translational modifications for ENAH Gene

  • NTN1-induced PKA phosphorylation on Ser-265 directly parallels the formation of filopodial protrusions.
  • Ubiquitination at Lys69 and posLast=574574

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ENAH (Mena)
  • Abcam antibodies for ENAH
  • Santa Cruz Biotechnology (SCBT) Antibodies for ENAH

No data available for DME Specific Peptides for ENAH Gene

Domains & Families for ENAH Gene

Gene Families for ENAH Gene

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

Protein Domains for ENAH Gene

Suggested Antigen Peptide Sequences for ENAH Gene

Graphical View of Domain Structure for InterPro Entry

Q8N8S7

UniProtKB/Swiss-Prot:

ENAH_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 ENAH: view

Function for ENAH Gene

Molecular function for ENAH 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. ENAH induces the formation of F-actin rich outgrowths in fibroblasts. Acts synergistically with BAIAP2-alpha and downstream of NTN1 to promote filipodia formation (By similarity).

Phenotypes From GWAS Catalog for ENAH Gene

Gene Ontology (GO) - Molecular Function for ENAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 16979624
GO:0017124 SH3 domain binding IEA --
GO:0050699 WW domain binding IPI 17686488
genes like me logo Genes that share ontologies with ENAH: view
genes like me logo Genes that share phenotypes with ENAH: view

Animal Models for ENAH Gene

MGI Knock Outs for ENAH:

Animal Model Products

CRISPR Products

miRNA for ENAH Gene

miRTarBase miRNAs that target ENAH

Inhibitory RNA Products

Clone Products

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

Localization for ENAH Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENAH Gene

Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, lamellipodium. Cell projection, filopodium. Cell junction, synapse. Cell junction, focal adhesion. Note=Targeted to the leading edge of lamellipodia and filopodia by MRL family members. Colocalizes at filopodial tips with a number of other proteins including vinculin and zyxlin. Colocalizes with N-WASP at the leading edge. Colocalizes with GPHN and PFN at synapses (By similarity). {ECO:0000250}.

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 ENAH gene
Compartment Confidence
plasma membrane 5
cytosol 5
cytoskeleton 4
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Focal adhesion sites (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ENAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0005925 focal adhesion IDA,IEA --
genes like me logo Genes that share ontologies with ENAH: view

Pathways & Interactions for ENAH Gene

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

Pathways by source for ENAH Gene

Gene Ontology (GO) - Biological Process for ENAH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007411 axon guidance TAS --
genes like me logo Genes that share ontologies with ENAH: view

No data available for SIGNOR curated interactions for ENAH Gene

Drugs & Compounds for ENAH Gene

No Compound Related Data Available

Transcripts for ENAH Gene

Unigene Clusters for ENAH Gene

Enabled homolog (Drosophila):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ENAH Gene

GeneLoc Exon Structure for
ENAH
ECgene alternative splicing isoforms for
ENAH

Expression for ENAH Gene

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

Protein differential expression in normal tissues from HIPED for ENAH Gene

This gene is overexpressed in Bone marrow stromal cell (10.4) and Urinary Bladder (6.2).

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



Protein tissue co-expression partners for ENAH Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ENAH Gene:

ENAH

SOURCE GeneReport for Unigene cluster for ENAH Gene:

Hs.497893

mRNA Expression by UniProt/SwissProt for ENAH Gene:

Q8N8S7-ENAH_HUMAN
Tissue specificity: Expressed in myoepithelia of parotid, breast, bronchial glands and sweat glands. Expressed in colon-rectum muscolaris mucosae epithelium, pancreas acinar ductal epithelium, endometrium epithelium, prostate fibromuscolar stroma and placenta vascular media. Overexpressed in a majority of breast cancer cell lines and primary breast tumor lesions.

Evidence on tissue expression from TISSUES for ENAH Gene

  • Skin(4.4)
  • Liver(4.2)
  • Blood(4.1)
  • Nervous system(4)
  • Lung(3.3)
  • Eye(2.5)
  • Gall bladder(2.3)
  • Stomach(2.3)
genes like me logo Genes that share expression patterns with ENAH: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENAH Gene

Orthologs for ENAH Gene

This gene was present in the common ancestor of animals.

Orthologs for ENAH Gene

Organism Taxonomy Gene Similarity Type Details
rat
(Rattus norvegicus)
Mammalia Enah 33
  • 95.07 (n)
mouse
(Mus musculus)
Mammalia Enah 33 16 34
  • 88.37 (n)
chimpanzee
(Pan troglodytes)
Mammalia ENAH 34
  • 69 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ENAH 34
  • 66 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ENAH 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENAH 34
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ENAH 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves AVENAII 34
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ENAH 34
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.7007 33
zebrafish
(Danio rerio)
Actinopterygii enah 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ena 34
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-34 34
  • 25 (a)
OneToMany
Species where no ortholog for ENAH 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)
  • 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 ENAH Gene

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

Paralogs for ENAH Gene

Paralogs for ENAH Gene

Pseudogenes.org Pseudogenes for ENAH Gene

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

Variants for ENAH Gene

Sequence variations from dbSNP and Humsavar for ENAH Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs34432111 benign, not specified 225,519,570(-) AAAAAAAAAAAAAAAA/AAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA/AAAAAAAAAAAAAA/AAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAA/AAAAAAAAAAAAAAAAAA intron_variant
rs1000002575 -- 225,654,367(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000015503 -- 225,581,677(-) A/G intron_variant
rs1000067187 -- 225,536,464(-) A/G intron_variant
rs1000107718 -- 225,597,995(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
nsv945325 CNV duplication 23825009
nsv8880 CNV gain 18304495
nsv832736 CNV loss 17160897
nsv832725 CNV gain 17160897
nsv832714 CNV loss 17160897
nsv826842 CNV gain 20364138
nsv511737 CNV loss 21212237
nsv4731 CNV insertion 18451855
nsv4720 CNV deletion 18451855
nsv441740 CNV gain 18776908
nsv433350 CNV gain 18776910
nsv1149634 CNV deletion 26484159
nsv1068529 CNV deletion 25765185
nsv1004851 CNV gain 25217958
esv7564 CNV loss 19470904
esv4193 CNV loss 18987735
esv3588998 CNV loss 21293372
esv3588997 CNV loss 21293372
esv3588996 CNV loss 21293372
esv3588992 CNV gain 21293372
esv3575750 CNV gain 25503493
esv3547522 CNV deletion 23714750
esv34905 CNV gain 17911159
esv2759003 CNV gain 17122850
esv2743164 CNV deletion 23290073
esv2743163 CNV deletion 23290073
esv2743161 CNV deletion 23290073
esv2723918 CNV deletion 23290073
esv2723905 CNV deletion 23290073
esv2723894 CNV deletion 23290073
esv2723883 CNV deletion 23290073
esv2723872 CNV deletion 23290073
esv2660989 CNV deletion 23128226
esv2656690 CNV deletion 23128226
esv2621711 CNV deletion 19546169
esv1963994 CNV deletion 18987734
esv1034120 CNV deletion 17803354
dgv280n106 CNV deletion 24896259

Variation tolerance for ENAH Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.06; 37.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENAH Gene

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

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

Disorders for ENAH Gene

Additional Disease Information for ENAH

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ENAH Gene.

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

Publications for ENAH Gene

  1. Tes, a specific Mena interacting partner, breaks the rules for EVH1 binding. (PMID: 18158903) Boëda B … Way M (Molecular cell 2007) 3 4 22 58
  2. A novel proline-rich motif present in ActA of Listeria monocytogenes and cytoskeletal proteins is the ligand for the EVH1 domain, a protein module present in the Ena/VASP family. (PMID: 9312002) Niebuhr K … Chakraborty T (The EMBO journal 1997) 3 4 22 58
  3. Splicing program of human MENA produces a previously undescribed isoform associated with invasive, mesenchymal-like breast tumors. (PMID: 23129656) Di Modugno F … Nisticò P (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4 58
  4. Molecular recognition of the Tes LIM2-3 domains by the actin-related protein Arp7A. (PMID: 21278383) Boëda B … Way M (The Journal of biological chemistry 2011) 3 4 58
  5. 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

Products for ENAH Gene

Sources for ENAH Gene

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