Gene Gene information from NCBI Gene database.
Entrez ID 1942
Gene name Ephrin A1
Gene symbol EFNA1
Synonyms (NCBI Gene)
B61ECKLGEFL1EPLG1GMANLERK-1LERK1TNFAIP4
Chromosome 1
Chromosome location 1q22
Summary This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system a
miRNA miRNA information provided by mirtarbase database.
371
miRTarBase ID miRNA Experiments Reference
MIRT001058 hsa-miR-218-5p qRT-PCRWestern blot 17998940
MIRT016724 hsa-miR-335-5p Microarray 18185580
MIRT021322 hsa-miR-9-5p Microarray 17612493
MIRT022145 hsa-miR-124-3p Microarray 18668037
MIRT053497 hsa-miR-200c-3p Luciferase reporter assayqRT-PCR 23065816
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0001525 Process Angiogenesis IEA
GO:0003180 Process Aortic valve morphogenesis IEA
GO:0003180 Process Aortic valve morphogenesis ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
191164 3221 ENSG00000169242
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20827
Protein name Ephrin-A1 (EPH-related receptor tyrosine kinase ligand 1) (LERK-1) (Immediate early response protein B61) (Tumor necrosis factor alpha-induced protein 4) (TNF alpha-induced protein 4) [Cleaved into: Ephrin-A1, secreted form]
Protein function Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors residing on ad
PDB 3CZU , 3HEI , 3MBW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00812 Ephrin 18 147 Ephrin Domain
Tissue specificity TISSUE SPECIFICITY: Brain. Down-regulated in primary glioma tissues compared to the normal tissues. The soluble monomeric form is expressed in the glioblastoma multiforme (GBM) and breast cancer cells (at protein level). {ECO:0000269|PubMed:17332925}.
Sequence
Sequence length 205
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
PI3K-Akt signaling pathway
Axon guidance
MicroRNAs in cancer
  EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BLADDER EXSTROPHY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PEPTIC ULCER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 22236865
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22807579
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 14707054
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 16428472, 29367676
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16098464, 20154726, 21935409
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma CTD_human_DG 20154726
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 15649254 Inhibit
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 18794797, 21935409, 22261062, 26861043, 33977106 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma Carcinoma BEFREE 22236865
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 15888795 Associate
★☆☆☆☆
Found in Text Mining only