Gene Gene information from NCBI Gene database.
Entrez ID 2044
Gene name EPH receptor A5
Gene symbol EPHA5
Synonyms (NCBI Gene)
CEK7EHK-1EHK1EK7HEK7TYRO4
Chromosome 4
Chromosome location 4q13.1-q13.2
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
rs1057520012 C>T Likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
198
miRTarBase ID miRNA Experiments Reference
MIRT006576 hsa-miR-34a-5p Luciferase reporter assayWestern blot 22079638
MIRT025144 hsa-miR-181a-5p Microarray 17612493
MIRT542992 hsa-miR-5011-5p PAR-CLIP 21572407
MIRT523890 hsa-miR-511-3p PAR-CLIP 21572407
MIRT523889 hsa-miR-567 PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity IEA
GO:0004714 Function Transmembrane receptor protein tyrosine kinase activity IEA
GO:0005003 Function Ephrin receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600004 3389 ENSG00000145242
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54756
Protein name Ephrin type-A receptor 5 (EC 2.7.10.1) (Brain-specific kinase) (EPH homology kinase 1) (EHK-1) (EPH-like kinase 7) (EK7) (hEK7)
Protein function Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is
PDB 2R2P , 4ET7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01404 Ephrin_lbd 61 233 Ephrin receptor ligand binding domain Domain
PF00041 fn3 359 453 Fibronectin type III domain Domain
PF00041 fn3 470 552 Fibronectin type III domain Domain
PF14575 EphA2_TM 574 672 Ephrin type-A receptor 2 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 675 932 Protein tyrosine and serine/threonine kinase Domain
PF00536 SAM_1 964 1027 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Almost exclusively expressed in the nervous system in cortical neurons, cerebellar Purkinje cells and pyramidal neurons within the cortex and hippocampus. Display an increasing gradient of expression from the forebrain to hindbrain and
Sequence
MRGSGPRGAGRRRPPSGGGDTPITPASLAGCYSAPRRAPLWTCLLLCAALRTLLASPSNE
VNLLDSRTVMGDLGWIAFPKNGWEEIGEVDENYAPIHTYQVCKVMEQNQNNWLLTSWISN
EGASRIFIELKFTLRDCNSLPGGLGTCKETFNMYYFESDDQNGRNIKENQYIKIDTIAAD
ESFTELDLGDRVMKLNTEVRDVGPLSKKGFYLAFQDVGACIALVSVRVYYKKC
PSVVRHL
AVFPDTITGADSSQLLEVSGSCVNHSVTDEPPKMHCSAEGEWLVPIGKCMCKAGYEEKNG
TCQVCRPGFFKASPHIQSCGKCPPHSYTHEEASTSCVCEKDYFRRESDPPTMACTRPPSA
PRNAISNVNETSVFLEWIPPADTGGRKDVSYYIACKKCNSHAGVCEECGGHVRYLPRQSG
LKNTSVMMVDLLAHTNYTFEIEAVNGVSDLSPG
ARQYVSVNVTTNQAAPSPVTNVKKGKI
AKNSISLSWQEPDRPNGIILEYEIKYFEKDQETSYTIIKSKETTITAEGLKPASVYVFQI
RARTAAGYGVFS
RRFEFETTPVFAASSDQSQIPVIAVSVTVGVILLAVVIGVLLSGSCCE
CGCGRASSLCAVAHPSLIWRCGYSKAKQDPEEEKMHFHNGHIKLPGVRTYIDPHTYEDPN
QAVHEFAKEIEA
SCITIERVIGAGEFGEVCSGRLKLPGKRELPVAIKTLKVGYTEKQRRD
FLGEASIMGQFDHPNIIHLEGVVTKSKPVMIVTEYMENGSLDTFLKKNDGQFTVIQLVGM
LRGISAGMKYLSDMGYVHRDLAARNILINSNLVCKVSDFGLSRVLEDDPEAAYTTRGGKI
PIRWTAPEAIAFRKFTSASDVWSYGIVMWEVVSYGERPYWEMTNQDVIKAVEEGYRLPSP
MDCPAALYQLMLDCWQKERNSRPKFDEIVNML
DKLIRNPSSLKTLVNASCRVSNLLAEHS
PLGSGAYRSVGEWLEAIKMGRYTEIFMENGYSSMDAVAQVTLEDLRRLGVTLVGHQKKIM
NSLQEMK
VQLVNGMVPL
Sequence length 1037
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.).
5
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Astrocytoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLOBAL DEVELOPMENTAL DELAY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA 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 of large intestine Colorectal Cancer GWASCAT_DG 30557370
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma CLINVAR_DG 16140923
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31181069
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety disorder Pubtator 31181069 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31181069
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 21804549
★☆☆☆☆
Found in Text Mining only
Attention Deficit Disorder with Hyperactivity Attention deficit hyperactivity disorder Pubtator 34109382 Associate
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder BEFREE 23824631
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30724859
★☆☆☆☆
Found in Text Mining only