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 have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ep... See more...

Aliases for EPHA5 Gene

Aliases for EPHA5 Gene

  • EPH Receptor A5 2 3 5
  • TYRO4 2 3 4
  • EHK1 2 3 4
  • HEK7 3 4 4
  • Ephrin Type-A Receptor 5 3 4
  • EPH Homology Kinase 1 3 4
  • Brain-Specific Kinase 3 4
  • EPH-Like Kinase 7 3 4
  • EC 2.7.10.1 4 50
  • EHK-1 3 4
  • CEK7 2 3
  • EK7 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Tyrosine-Protein Kinase Receptor EHK-1 3
  • Receptor Protein-Tyrosine Kinase HEK7 3
  • EC 2.7.10 50
  • EphA5 2
  • EPHA5 5
  • Hek7 2
  • BSK 4

External Ids for EPHA5 Gene

Previous GeneCards Identifiers for EPHA5 Gene

  • GC04U990011
  • GC04M066173
  • GC04M066193
  • GC04M066014
  • GC04M065872
  • GC04M062095

Summaries for EPHA5 Gene

Entrez Gene Summary for EPHA5 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 have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Aug 2013]

GeneCards Summary for EPHA5 Gene

EPHA5 (EPH Receptor A5) is a Protein Coding gene. Diseases associated with EPHA5 include Leber Congenital Amaurosis 17 and Lung Cancer Susceptibility 3. Among its related pathways are Nanog in Mammalian ESC Pluripotency and Akt Signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is EPHA3.

UniProtKB/Swiss-Prot Summary for EPHA5 Gene

  • 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 referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in the development of the retinotectal, entorhino-hippocampal and hippocamposeptal pathways. Together with EFNA5 plays also a role in synaptic plasticity in adult brain through regulation of synaptogenesis. In addition to its function in the nervous system, the interaction of EPHA5 with EFNA5 mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion (By similarity).

Tocris Summary for EPHA5 Gene

  • Eph receptors are the largest family of receptor tyrosine kinases (RTKs) and are divided into two subclasses, EphA and EphB. Originally identified as mediators of axon guidance, Eph receptors are implicated in many processes, particularly cancer development and progression.

Gene Wiki entry for EPHA5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPHA5 Gene

Genomics for EPHA5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EPHA5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J065668 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 262.7 +1.4 1395 5.4 ZNF600 ZIC2 FEZF1 GABPB1 ZBTB48 ZNF189 CTCF ZNF18 TRIM28 ZNF561 EPHA5 EPHA5-AS1 HSALNG0034819 HSALNG0034820 lnc-TECRL-14
GH04J065998 Promoter 0.8 Ensembl 18.9 -329.5 -329505 2.8 FOXA1 FOXA2 SAP130 DMAP1 ZNF652 NFRKB NR2C1 L3MBTL2 LEF1 GATAD2A ENSG00000249413 piR-45012-375 EPHA5 HSALNG0034823
GH04J066061 Enhancer 0.3 Ensembl 18.2 -391.4 -391350 0.9 PKNOX1 EPHA5 IFITM3P1 HSALNG0034835 ENSG00000249413
GH04J065969 Enhancer 0.3 Ensembl 18 -298.6 -298605 0.2 HLF EPHA5 LOC105377260 ENSG00000249413 HSALNG0034823
GH04J065942 Enhancer 0.6 Ensembl 6.3 -272.7 -272746 0.6 TEAD3 USF2 NFIB EGR1 NFIA SP1 RAD21 ETS1 SOX13 CHD2 LOC105377260 EPHA5 HSALNG0034823 lnc-STAP1-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPHA5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPHA5

Top Transcription factor binding sites by QIAGEN in the EPHA5 gene promoter:
  • ATF-2
  • C/EBPbeta
  • CRE-BP1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-2
  • p53
  • Pbx1a

Genomic Locations for EPHA5 Gene

Latest Assembly
chr4:65,319,563-65,670,495
(GRCh38/hg38)
Size:
350,933 bases
Orientation:
Minus strand

Previous Assembly
chr4:66,185,285-66,536,207
(GRCh37/hg19 by Entrez Gene)
Size:
350,923 bases
Orientation:
Minus strand

chr4:66,185,281-66,536,213
(GRCh37/hg19 by Ensembl)
Size:
350,933 bases
Orientation:
Minus strand

Genomic View for EPHA5 Gene

Genes around EPHA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHA5 Gene

Proteins for EPHA5 Gene

  • Protein details for EPHA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54756-EPHA5_HUMAN
    Recommended name:
    Ephrin type-A receptor 5
    Protein Accession:
    P54756
    Secondary Accessions:
    • Q7Z3F2

    Protein attributes for EPHA5 Gene

    Size:
    1037 amino acids
    Molecular mass:
    114803 Da
    Quaternary structure:
    • Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses (By similarity). Interacts (via SAM domain) with SAMD5 (via SAM domain) (By similarity).

    Three dimensional structures from OCA and Proteopedia for EPHA5 Gene

    Alternative splice isoforms for EPHA5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA5 Gene

Selected DME Specific Peptides for EPHA5 Gene

P54756:
  • MKLNTEVR
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • RWTAPEAI
  • DTGGRKD
  • RKFTSASD
  • LEDDPEAAYTT
  • AHTNYTFE
  • TTNQAAPS
  • SVRVYYKKCP
  • GYTEKQRRDFL
  • GMKYLSDM
  • SDVWSYGI
  • MIVTEYMENGSLD
  • DTIAADE
  • LDKLIRNP
  • ALVSVRV
  • CTRPPSAP
  • KAKQDPEEEKM
  • QETSYTI
  • EGEWLVPIGKC
  • RARTAAGYG
  • LEGVVTKS
  • QAVHEFAKE
  • NLVCKVSDFGLSR
  • KFTLRDCNS
  • WTCLLLCAALR
  • LAFQDVGAC
  • GFYLAFQD
  • PKNGWEEIGEVDENYAPIHTYQVCKVMEQNQNNWLLTSWI
  • YVFQIRA
  • DGQFTVIQL
  • EEGYRLP
  • ISNVNETS
  • GRLKLPG
  • FSRRFEFET
  • EASIMGQF
  • NGVSDLS
  • EPDRPNG
  • FPDTITGADSSQLLEVSG
  • QLMLDCW
  • TYEDPNQAV
  • LMLDCWQK
  • DPHTYEDP
  • SYGERPYW
  • IMGQFDHPNII
  • LKLPGKR
  • DMGYVHRDLAARNIL

Post-translational modifications for EPHA5 Gene

  • Phosphorylated. Phosphorylation is stimulated by the ligand EFNA5. Dephosphorylation upon stimulation by glucose, inhibits EPHA5 forward signaling and results in insulin secretion (By similarity).
  • Glycosylation at Asn264, Asn299, Asn369, Asn423, Asn436, and Asn461
  • Modification sites at PhosphoSitePlus

Domains & Families for EPHA5 Gene

Protein Domains for EPHA5 Gene

InterPro:
Blocks:
  • Tyrosine protein kinase, active site
  • Sterile alpha motif SAM
  • Fibronectin type III repeat signature
  • Ephrin receptor, ligand binding
  • Receptor tyrosine kinase, class V

Suggested Antigen Peptide Sequences for EPHA5 Gene

GenScript: Design optimal peptide antigens:
  • EPHA5 protein (B7ZKJ3_HUMAN)
  • EPHA5 protein (B7ZKW7_HUMAN)
  • EPH-like kinase 7 (EPHA5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54756

UniProtKB/Swiss-Prot:

EPHA5_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
genes like me logo Genes that share domains with EPHA5: view

Function for EPHA5 Gene

Molecular function for EPHA5 Gene

UniProtKB/Swiss-Prot 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 referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Among GPI-anchored ephrin-A ligands, EFNA5 most probably constitutes the cognate/functional ligand for EPHA5. Functions as an axon guidance molecule during development and may be involved in the development of the retinotectal, entorhino-hippocampal and hippocamposeptal pathways. Together with EFNA5 plays also a role in synaptic plasticity in adult brain through regulation of synaptogenesis. In addition to its function in the nervous system, the interaction of EPHA5 with EFNA5 mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.1; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028};.

Enzyme Numbers (IUBMB) for EPHA5 Gene

Phenotypes From GWAS Catalog for EPHA5 Gene

Gene Ontology (GO) - Molecular Function for EPHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,IBA 21873635
GO:0005003 ephrin receptor activity IEA,ISS --
genes like me logo Genes that share ontologies with EPHA5: view
genes like me logo Genes that share phenotypes with EPHA5: view

Animal Models for EPHA5 Gene

MGI Knock Outs for EPHA5:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPHA5

Clone products for research

  • Addgene plasmids for EPHA5

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPHA5 Gene

Localization for EPHA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA5 Gene

Cell membrane. Single-pass type I membrane protein. Cell projection, axon. Cell projection, dendrite.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPHA5 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EPHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005791 rough endoplasmic reticulum IDA 10375373
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA,IBA 21873635
GO:0009897 external side of plasma membrane IDA 10064801
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EPHA5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPHA5 Gene

Pathways & Interactions for EPHA5 Gene

PathCards logo

SuperPathways for EPHA5 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.73
.62
.59
.58
.58
.55
.38
2 EPHA forward signaling
.30
3 ERK Signaling
.61
.61
.58
.51
.49
4 Nanog in Mammalian ESC Pluripotency
.61
.61
.59
.48
5 Actin Nucleation by ARP-WASP Complex
.66
.66
.41
genes like me logo Genes that share pathways with EPHA5: view

Pathways by source for EPHA5 Gene

3 GeneGo (Thomson Reuters) pathways for EPHA5 Gene
  • Cell adhesion Ephrins signaling
  • G-protein signaling_RhoA regulation pathway
  • Neurophysiological process Receptor-mediated axon growth repulsion
32 Qiagen pathways for EPHA5 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
1 Cell Signaling Technology pathway for EPHA5 Gene

SIGNOR curated interactions for EPHA5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPHA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA,IBA 21873635
GO:0007275 multicellular organism development IBA 21873635
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance IBA,ISS --
genes like me logo Genes that share ontologies with EPHA5: view

Drugs & Compounds for EPHA5 Gene

(5) Drugs for EPHA5 Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 334
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Paclitaxel Approved, Vet_approved Pharma Tubulin and Bcl2 inhibitor, Taxanes 3989
ATP Investigational Nutra 0

(1) Additional Compounds for EPHA5 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with EPHA5: view

Transcripts for EPHA5 Gene

mRNA/cDNA for EPHA5 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPHA5

Clone products for research

  • Addgene plasmids for EPHA5

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA5 Gene

No ASD Table

Relevant External Links for EPHA5 Gene

GeneLoc Exon Structure for
EPHA5

Expression for EPHA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EPHA5 Gene

mRNA differential expression in normal tissues according to GTEx for EPHA5 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.9), Brain - Hippocampus (x7.5), Brain - Anterior cingulate cortex (BA24) (x7.5), Brain - Amygdala (x5.7), and Brain - Cortex (x4.7).

Protein differential expression in normal tissues from HIPED for EPHA5 Gene

This gene is overexpressed in Fetal Brain (45.7) and Cerebrospinal fluid (19.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPHA5 Gene



Protein tissue co-expression partners for EPHA5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPHA5

SOURCE GeneReport for Unigene cluster for EPHA5 Gene:

Hs.654492

mRNA Expression by UniProt/SwissProt for EPHA5 Gene:

P54756-EPHA5_HUMAN
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 spinal cord.

Evidence on tissue expression from TISSUES for EPHA5 Gene

  • Nervous system(4.8)
  • Eye(4.4)
genes like me logo Genes that share expression patterns with EPHA5: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHA5 Gene

Orthologs for EPHA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPHA5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EPHA5 29 30
  • 99.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EPHA5 30
  • 98 (a)
OneToOne
LOC100337226 29
  • 94.5 (n)
Dog
(Canis familiaris)
Mammalia EPHA5 29 30
  • 95.32 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia EPHA5 30
  • 95 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EPHA5 30
  • 95 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Epha5 29
  • 91.1 (n)
Mouse
(Mus musculus)
Mammalia Epha5 29 16 30
  • 90.39 (n)
OneToOne
Chicken
(Gallus gallus)
Aves EPHA5 29 30
  • 83.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EPHA5 30
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia epha5 29
  • 78.14 (n)
Zebrafish
(Danio rerio)
Actinopterygii CT990561.1 30
  • 79 (a)
OneToOne
LOC797595 29
  • 72.52 (n)
Species where no ortholog for EPHA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EPHA5 Gene

ENSEMBL:
Gene Tree for EPHA5 (if available)
TreeFam:
Gene Tree for EPHA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPHA5: view image
Alliance of Genome Resources:
Additional Orthologs for EPHA5

Paralogs for EPHA5 Gene

genes like me logo Genes that share paralogs with EPHA5: view

Variants for EPHA5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPHA5 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs105752001 A lung adenocarcinoma sample p.Gly582Glu
rs1057520012 Likely Pathogenic: Lung adenocarcinoma 65,404,419(-) C/T
NM_004439.8(EPHA5):c.1745G>A (p.Gly582Glu)
MISSENSE
rs13434839 Benign: not provided 65,353,038(-) C/T
NM_004439.8(EPHA5):c.2298+4G>A
INTRON
rs199614818 A lung adenocarcinoma sample p.Arg417Gln
rs200932017 Uncertain Significance: Astrocytoma 65,495,411(-) T/C
NM_004439.8(EPHA5):c.1043A>G (p.Asp348Gly)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EPHA5 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for EPHA5 Gene

Variant ID Type Subtype PubMed ID
dgv2816n106 CNV deletion 24896259
esv1746107 CNV insertion 17803354
esv2021289 CNV deletion 18987734
esv2294940 CNV deletion 18987734
esv2422517 CNV duplication 17116639
esv24754 CNV loss 19812545
esv2501169 CNV deletion 19546169
esv2671686 CNV deletion 23128226
esv2676800 CNV deletion 23128226
esv2727747 CNV deletion 23290073
esv2727748 CNV deletion 23290073
esv2727749 CNV deletion 23290073
esv3383960 CNV insertion 20981092
esv3400337 CNV insertion 20981092
esv3600795 CNV loss 21293372
esv988089 CNV insertion 20482838
esv993892 CNV insertion 20482838
nsv1014463 CNV gain 25217958
nsv1114538 CNV deletion 24896259
nsv1149744 CNV deletion 26484159
nsv290967 CNV deletion 16902084
nsv291171 CNV insertion 16902084
nsv291266 CNV insertion 16902084
nsv470041 CNV loss 18288195
nsv475367 CNV novel sequence insertion 20440878
nsv507172 OTHER sequence alteration 20534489
nsv509905 OTHER sequence alteration 20534489
nsv818239 CNV gain 17921354
nsv980208 CNV duplication 23825009

Variation tolerance for EPHA5 Gene

Residual Variation Intolerance Score: 6.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.77; 66.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHA5 Gene

Human Gene Mutation Database (HGMD)
EPHA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA5
Leiden Open Variation Database (LOVD)
EPHA5

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA5 Gene

Disorders for EPHA5 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EPHA5 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
leber congenital amaurosis 17
  • lca17
lung cancer susceptibility 3
  • lncr3
adenocarcinoma
  • adenocarcinomas
large cell carcinoma
  • carcinoma large cell
lung cancer
  • lung cancer, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search EPHA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHA5

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with EPHA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHA5 Gene

Publications for EPHA5 Gene

  1. Unified nomenclature for Eph family receptors and their ligands, the ephrins. Eph Nomenclature Committee. (PMID: 9267020) (Cell 1997) 2 3 4
  2. Genomewide association study for determinants of HIV-1 acquisition and viral set point in HIV-1 serodiscordant couples with quantified virus exposure. (PMID: 22174851) Lingappa JR … Partners in Prevention HSV/HIV Transmission Study Team (PloS one 2011) 3 40
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  4. Frequent epigenetic inactivation of the receptor tyrosine kinase EphA5 by promoter methylation in human breast cancer. (PMID: 19733895) Fu DY … Shao ZM (Human pathology 2010) 3 22
  5. Immunohistochemical localization of EphA5 in the adult human central nervous system. (PMID: 10375373) Olivieri G … Miescher GC (The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1999) 3 4

Products for EPHA5 Gene

Sources for EPHA5 Gene