EPHA4 (EPH receptor A4)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2043
Gene name EPH receptor A4
Gene symbol EPHA4
Synonyms (NCBI Gene)
EK8HEK8SEKTYRO1
Chromosome 2
Chromosome location 2q36.1
Summary 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.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1553568456 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
769
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (769)
miRTarBase ID miRNA Experiments Reference
MIRT006972 hsa-miR-10a-5p GFP reporter assayImmunohistochemistryqRT-PCRWestern blot 22996586
MIRT006972 hsa-miR-10a-5p GFP reporter assayImmunohistochemistryqRT-PCRWestern 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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
132
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (132)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602188 3388 ENSG00000116106
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
FYLAFQDVGACIALVSVRVFYKKCPLTVRNLAQFPDTITGADTSSLVEVRGSCVNNSEEK
DVPKMYCGADGEWLVPIGNCLCNAGHEERSGECQACKIGYYKALSTDATCAKCPPHSYSV
WEGATSCTCDRGFFRADNDAASMPCTRPPSAPLNLISNVNETSVNLEWSSPQNTGGRQDI
SYNVVCKKCGAGDPSKCRPCGSGVHYTPQQNGLKTTKVSITDLLAHTNYTFEIWAVNGVS
KYNPNPDQSVSVTVTTNQAAPSSIALVQAKEVTRYSVALAWLEPDRPNGVILEYEVKYYE
KDQNERSYRIVRTAARNTDIKGLNPLTSYVFHVRARTAAGYGDFSEPLEVTTNTVPSRII
GDGANSTVLLVSVSGSVVLVVILIAAFVISRRRSKYSKAKQEADEEKHLNQGVRTYVDPF
TYEDPNQAVREFAKEIDASCIKIEKVIGVGEFGEVCSGRLKVPGKREICVAIKTLKAGYT
DKQRRDFLSEASIMGQFDHPNIIHLEGVVTKCKPVMIITEYMENGSLDAFLRKNDGRFTV
IQLVGMLRGIGSGMKYLSDMSYVHRDLAARNILVNSNLVCKVSDFGMSRVLEDDPEAAYT
TRGGKIPIRWTAPEAIAYRKFTSASDVWSYGIVMWEVMSYGERPYWDMSNQDVIKAIEEG
YRLPPPMDCPIALHQLMLDCWQKERSDRPKFGQIVNMLDKLIRNPNSLKRTGTESSRPNT
ALLDPSSPEFSAVVSVGDWLQAIKMDRYKDNFTAAGYTTLEAVVHVNQEDLARIGITAIT
HQNKILSSVQAMRTQMQQMHGRMVPV
Sequence length 986
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Axon guidance   EPH-Ephrin signaling
EPHA-mediated growth cone collapse
EPH-ephrin mediated repulsion of cells
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
atypical cerebral palsy Likely pathogenic rs1553568456 RCV000655960
See cases Likely pathogenic rs2469225427 RCV003228866
Show/Hide Unknown Diseases (12)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs10498111 RCV005909700
Clear cell carcinoma of kidney Benign rs61731200 RCV005913144
Colon adenocarcinoma Benign rs10498111 RCV005909697
Colorectal cancer Benign rs10498111 RCV005909701
Show/Hide Text Mining Associations (39)
Associations from Text MiningDisease 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