Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
602188 3388 ENSG00000116106
Protein Protein information from UniProt database.
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
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
33
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
atypical cerebral palsy Likely pathogenic rs1553568456 RCV000655960
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA 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
Abetalipoproteinemia Abetalipoproteinemia BEFREE 29378302
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 16965393
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22807579
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 26516928
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 22922411, 23991104, 26497046, 28153688, 28196613, 28526745, 29518482, 30061574, 31300041, 31575928, 31803009
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis ORPHANET_DG 22922411
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis Orphanet
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 23991104, 26497046 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 16965393, 26516928
★☆☆☆☆
Found in Text Mining only