Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2043
Gene name Gene Name - the full gene name approved by the HGNC.
EPH receptor A4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPHA4
Synonyms (NCBI Gene) Gene synonyms aliases
EK8, HEK8, SEK, TYRO1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q36.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically ha
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1553568456 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006972 hsa-miR-10a-5p GFP reporter assay, Immunohistochemistry, qRT-PCR, Western blot 22996586
MIRT006972 hsa-miR-10a-5p GFP reporter assay, Immunohistochemistry, qRT-PCR, Western blot 22996586
MIRT016908 hsa-miR-335-5p Microarray 18185580
MIRT020126 hsa-miR-130b-3p Sequencing 20371350
MIRT021734 hsa-miR-132-3p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000290 Process Deadenylation-dependent decapping of nuclear-transcribed mRNA IDA 31439799
GO:0001540 Function Amyloid-beta binding TAS 26871627
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602188 3388 ENSG00000116106
Protein
UniProt ID P54764
Protein name Ephrin type-A receptor 4 (EC 2.7.10.1) (EPH-like kinase 8) (EK8) (hEK8) (Tyrosine-protein kinase TYRO1) (Tyrosine-protein kinase receptor SEK)
Protein function Receptor tyrosine kinase which binds membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as
PDB 2LW8 , 2WO1 , 2WO2 , 2WO3 , 3CKH , 3GXU , 4BK4 , 4BK5 , 4BKA , 4BKF , 4M4P , 4M4R , 4W4Z , 4W50 , 5JR2 , 7OFV , 9CY8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01404 Ephrin_lbd 31 204 Ephrin receptor ligand binding domain Domain
PF00041 fn3 330 424 Fibronectin type III domain Domain
PF00041 fn3 442 525 Fibronectin type III domain Domain
PF14575 EphA2_TM 548 618 Ephrin type-A receptor 2 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 621 878 Protein tyrosine and serine/threonine kinase Domain
PF07647 SAM_2 908 973 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:7898931}.
Sequence
MAGIFYFALFSCLFGICDAVTGSRVYPANEVTLLDSRSVQGELGWIASPLEGGWEEVSIM
DEKNTPIRTYQVCNVMEPSQNNWLRTDWITREGAQRVYIEIKFTLRDCNSLPGVMGTCKE
TFNLYYYESDNDKERFIRENQFVKIDTIAADESFTQVDIGDRIMKLNTEIRDVGPLSKKG
FYLAFQDVGACIALVSVRVFYKKC
PLTVRNLAQFPDTITGADTSSLVEVRGSCVNNSEEK
DVPKMYCGADGEWLVPIGNCLCNAGHEERSGECQACKIGYYKALSTDATCAKCPPHSYSV
WEGATSCTCDRGFFRADNDAASMPCTRPPSAPLNLISNVNETSVNLEWSSPQNTGGRQDI
SYNVVCKKCGAGDPSKCRPCGSGVHYTPQQNGLKTTKVSITDLLAHTNYTFEIWAVNGVS
KYNP
NPDQSVSVTVTTNQAAPSSIALVQAKEVTRYSVALAWLEPDRPNGVILEYEVKYYE
KDQNERSYRIVRTAARNTDIKGLNPLTSYVFHVRARTAAGYGDFS
EPLEVTTNTVPSRII
GDGANSTVLLVSVSGSVVLVVILIAAFVISRRRSKYSKAKQEADEEKHLNQGVRTYVDPF
TYEDPNQAVREFAKEIDA
SCIKIEKVIGVGEFGEVCSGRLKVPGKREICVAIKTLKAGYT
DKQRRDFLSEASIMGQFDHPNIIHLEGVVTKCKPVMIITEYMENGSLDAFLRKNDGRFTV
IQLVGMLRGIGSGMKYLSDMSYVHRDLAARNILVNSNLVCKVSDFGMSRVLEDDPEAAYT
TRGGKIPIRWTAPEAIAYRKFTSASDVWSYGIVMWEVMSYGERPYWDMSNQDVIKAIEEG
YRLPPPMDCPIALHQLMLDCWQKERSDRPKFGQIVNML
DKLIRNPNSLKRTGTESSRPNT
ALLDPSSPEFSAVVSVGDWLQAIKMDRYKDNFTAAGYTTLEAVVHVNQEDLARIGITAIT
HQNKILSSVQAMR
TQMQQMHGRMVPV
Sequence length 986
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Axon guidance   EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Neurodevelopmental Disorders complex neurodevelopmental disorder N/A N/A GenCC
Neuroticism Neuroticism N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 22807579
Adenoma Associate 30175151
Amyotrophic Lateral Sclerosis Associate 23991104, 26497046
Autism Spectrum Disorder Associate 38057311
Breast Neoplasms Associate 29101386, 33977106
Carcinogenesis Associate 34139238
Carcinoma Pancreatic Ductal Associate 16965393
Colorectal Neoplasms Associate 30097457
Epstein Barr Virus Infections Inhibit 27338098
Glioma Associate 37192718