Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55740
Gene name Gene Name - the full gene name approved by the HGNC.
ENAH actin regulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ENAH
Synonyms (NCBI Gene) Gene synonyms aliases
ENA, MENA, NDPP1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q42.12
Summary Summary of gene provided in NCBI Entrez 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 moti
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016152 hsa-miR-615-3p Sequencing 20371350
MIRT019694 hsa-miR-375 Microarray 20215506
MIRT021597 hsa-miR-142-3p Microarray 17612493
MIRT022252 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT025077 hsa-miR-181a-5p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 16979624, 21044950, 21278383
GO:0005522 Function Profilin binding IBA 21873635
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609061 18271 ENSG00000154380
Protein
UniProt ID Q8N8S7
Protein name Protein enabled homolog
Protein 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 formatio
PDB 2HO2 , 2IYB , 2XQN , 4MY6 , 5N91 , 5N9C , 5N9P , 5NAJ , 5NBF , 5NBX , 5NC2 , 5NC7 , 5NCF , 5NCG , 5NCP , 5ND0 , 5NDU , 5NEG , 6RCF , 6RCJ , 6RD2 , 6XVT , 6XXR , 7A5M , 7AKI , 7LXE , 9C66
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00568 WH1 1 108 WH1 domain Domain
PF08776 VASP_tetra 552 588 VASP tetramerisation domain Coiled-coil
Tissue specificity 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 plac
Sequence
MSEQSICQARAAVMVYDDANKKWVPAGGSTGFSRVHIYHHTGNNTFRVVGRKIQDHQVVI
NCAIPKGLKYNQATQTFHQWRDARQVYGLNFGSKEDANVFASAMMHAL
EVLNSQETGPTL
PRQNSQLPAQVQNGPSQEELEIQRRQLQEQQRQKELERERLERERMERERLERERLERER
LERERLEQEQLERERQERERQERLERQERLERQERLERQERLDRERQERQERERLERLER
ERQERERQEQLEREQLEWERERRISSAAAPASVETPLNSVLGDSSASEPGLQAASQPAET
PSQQGIVLGPLAPPPPPPLPPGPAQASVALPPPPGPPPPPPLPSTGPPPPPPPPPLPNQV
PPPPPPPPAPPLPASGFFLASMSEDNRPLTGLAAAIAGAKLRKVSRMEDTSFPSGGNAIG
VNSASSKTDTGRGNGPLPLGGSGLMEEMSALLARRRRIAEKGSTIETEQKEDKGEDSEPV
TSKASSTSTPEPTRKPWERTNTMNGSKSPVISRRDSPRKNQIVFDNRSYDSLHRPKSTPL
SQPSANGVQTEGLDYDRLKQDILDEMRKELTKLKEELIDAIRQELSKSNTA
Sequence length 591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Rap1 signaling pathway
Axon guidance
Regulation of actin cytoskeleton
  Signaling by ROBO receptors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 26237430
Unknown
Disease term Disease name Evidence References Source
Neuroticism Neuroticism GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Pleomorphic Associate 22472896
Alzheimer Disease Associate 26417591
Breast Neoplasms Associate 16533770, 22971274, 23129656, 26149387, 31323325
Carcinoma Basal Cell Associate 33845831
Carcinoma Hepatocellular Associate 35030977
Colorectal Neoplasms Associate 18758639
Glioblastoma Associate 19277120
Glomerulonephritis IGA Associate 19641378
Hematuria Associate 19641378
Hereditary Breast and Ovarian Cancer Syndrome Associate 16533770, 17363586, 18758639