|
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 |
| 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 |
|
| Sequence length |
591 |
| Interactions |
View interactions
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Neuroticism |
Neuroticism |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| 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 |
| Inflammation |
Associate
|
19641378 |
| Lung Neoplasms |
Associate
|
27555542 |
| Metabolic Syndrome |
Inhibit
|
26421388 |
| Neoplasm Invasiveness |
Associate
|
22971274 |
| Neoplasm Metastasis |
Associate
|
31323325 |
| Neoplasms |
Associate
|
16533770, 18758639, 20187983, 22472896, 22971274, 35030977 |
| Precancerous Conditions |
Associate
|
23129656 |
| Proteinuria |
Associate
|
19641378 |
| Salivary Duct Calculi |
Stimulate
|
22472896 |
| Salivary Gland Neoplasms |
Associate
|
22472896 |
| Thyroid Cancer Papillary |
Associate
|
32065787 |
| Weight Loss |
Inhibit
|
26421388 |
|