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Aliases for EFNA5 Gene

Aliases for EFNA5 Gene

  • Ephrin A5 2 3 5
  • Ephrin-A5 2 3
  • LERK-7 3 4
  • EPLG7 3 4
  • LERK7 3 4
  • AL-1 3 4
  • Eph-Related Receptor Tyrosine Kinase Ligand 7 3
  • EPH-Related Receptor Tyrosine Kinase Ligand 7 4
  • GLC1M 3
  • EFL5 3
  • RAGS 3
  • AF1 3

External Ids for EFNA5 Gene

Previous HGNC Symbols for EFNA5 Gene

  • EPLG7

Previous GeneCards Identifiers for EFNA5 Gene

  • GC05M106471
  • GC05M107162
  • GC05M106747
  • GC05M106792
  • GC05M106744
  • GC05M101885
  • GC05M106712

Summaries for EFNA5 Gene

Entrez Gene Summary for EFNA5 Gene

  • Ephrin-A5, a member of the ephrin gene family, prevents axon bundling in cocultures of cortical neurons with astrocytes, a model of late stage nervous system development and differentiation. The EPH and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, particularly in the nervous system. EPH receptors typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin ligands and receptors have been named by the Eph Nomenclature Committee (1997). Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are similarly divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. [provided by RefSeq, Jul 2008]

GeneCards Summary for EFNA5 Gene

EFNA5 (Ephrin A5) is a Protein Coding gene. Diseases associated with EFNA5 include 3-Methylglutaconic Aciduria, Type V and Artemis Deficiency. Among its related pathways are Ras signaling pathway and Developmental Biology. Gene Ontology (GO) annotations related to this gene include ephrin receptor binding and chemorepellent activity. An important paralog of this gene is EFNA2.

UniProtKB/Swiss-Prot for EFNA5 Gene

  • Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors 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. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion.

Gene Wiki entry for EFNA5 Gene

Additional gene information for EFNA5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFNA5 Gene

Genomics for EFNA5 Gene

GeneHancer (GH) Regulatory Elements for EFNA5 Gene

Promoters and enhancers for EFNA5 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
GH05J107668 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.2 -194 5.8 PKNOX1 SMAD1 SIN3A FEZF1 ZNF2 ZNF213 ZNF143 KLF13 DEK SP3 EFNA5 GC05P107669 FBXL17 GC05P107680
GH05J107569 Enhancer 1.5 FANTOM5 Ensembl ENCODE 11.3 +99.3 99255 3.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A FEZF1 YBX1 ZNF2 IRF4 ZNF213 EFNA5 GC05P107582 GC05P107533
GH05J107395 Enhancer 0.7 dbSUPER 18.8 +274.8 274817 1.2 PKNOX1 NR2F1 JUNB BMI1 DPF2 BATF ATF2 ZNF217 BCL11A IKZF1 EFNA5 GC05P107533 GC05P107199
GH05J107387 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 7.4 +282.1 282149 3 PKNOX1 SMAD1 SIN3A FEZF1 IRF4 ATF7 RUNX3 JUNB REST ZNF488 EFNA5 GC05P107533 GC05P107199
GH05J107423 Enhancer 1.1 Ensembl ENCODE dbSUPER 8.9 +245.6 245554 4.1 JUN MAX RAD21 RFX5 GATA3 POLR2A ZSCAN5C RCOR1 FOSL2 FOS EFNA5 GC05P107533 GC05P107199
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFNA5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFNA5 gene promoter:
  • TBP
  • TFIID
  • deltaCREB
  • CREB
  • STAT5B
  • STAT5A

Genomic Locations for EFNA5 Gene

Genomic Locations for EFNA5 Gene
chr5:107,376,889-107,670,895
(GRCh38/hg38)
Size:
294,007 bases
Orientation:
Minus strand
chr5:106,712,590-107,006,596
(GRCh37/hg19)
Size:
294,007 bases
Orientation:
Minus strand

Genomic View for EFNA5 Gene

Genes around EFNA5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNA5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNA5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNA5 Gene

Proteins for EFNA5 Gene

  • Protein details for EFNA5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52803-EFNA5_HUMAN
    Recommended name:
    Ephrin-A5
    Protein Accession:
    P52803

    Protein attributes for EFNA5 Gene

    Size:
    228 amino acids
    Molecular mass:
    26297 Da
    Quaternary structure:
    • Binds to EPHB2. Interacts with EPHA8; activates EPHA8 (By similarity). Binds to the receptor tyrosine kinases EPHA2, EPHA3 and EPHB1. Forms a ternary EFNA5-EPHA3-ADAM10 complex mediating EFNA5 extracellular domain shedding by ADAM10 which regulates the EFNA5-EPHA3 complex internalization and function.

    Three dimensional structures from OCA and Proteopedia for EFNA5 Gene

neXtProt entry for EFNA5 Gene

Post-translational modifications for EFNA5 Gene

  • Glycosylation at isoforms=37
  • Modification sites at PhosphoSitePlus

Other Protein References for EFNA5 Gene

Protein Products

No data available for DME Specific Peptides for EFNA5 Gene

Domains & Families for EFNA5 Gene

Gene Families for EFNA5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins

Protein Domains for EFNA5 Gene

Suggested Antigen Peptide Sequences for EFNA5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52803

UniProtKB/Swiss-Prot:

EFNA5_HUMAN :
  • Belongs to the ephrin family.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA5: view

Function for EFNA5 Gene

Molecular function for EFNA5 Gene

UniProtKB/Swiss-Prot Function:
Cell surface GPI-bound ligand for Eph receptors, a family of receptor tyrosine kinases which are crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds promiscuously Eph receptors 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. Induces compartmentalized signaling within a caveolae-like membrane microdomain when bound to the extracellular domain of its cognate receptor. This signaling event requires the activity of the Fyn tyrosine kinase. Activates the EPHA3 receptor to regulate cell-cell adhesion and cytoskeletal organization. With the receptor EPHA2 may regulate lens fiber cells shape and interactions and be important for lens transparency maintenance. May function actively to stimulate axon fasciculation. The interaction of EFNA5 with EPHA5 also mediates communication between pancreatic islet cells to regulate glucose-stimulated insulin secretion. Cognate/functional ligand for EPHA7, their interaction regulates brain development modulating cell-cell adhesion and repulsion.
GENATLAS Biochemistry:
ephrin A-5,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated axonal guidance

Phenotypes From GWAS Catalog for EFNA5 Gene

Gene Ontology (GO) - Molecular Function for EFNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005168 neurotrophin TRKA receptor binding NAS 19036963
GO:0005169 neurotrophin TRKB receptor binding NAS 19036963
GO:0005170 neurotrophin TRKC receptor binding NAS 19036963
GO:0005515 protein binding IPI 19836338
GO:0030297 transmembrane receptor protein tyrosine kinase activator activity NAS 19036963
genes like me logo Genes that share ontologies with EFNA5: view
genes like me logo Genes that share phenotypes with EFNA5: view

Animal Models for EFNA5 Gene

MGI Knock Outs for EFNA5:

Animal Model Products

miRNA for EFNA5 Gene

miRTarBase miRNAs that target EFNA5

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFNA5 Gene

Localization for EFNA5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNA5 Gene

Cell membrane; Lipid-anchor, GPI-anchor. Membrane, caveola; Lipid-anchor, GPI-anchor. Note=Compartmentalized in discrete caveolae-like membrane microdomains.

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 EFNA5 gene
Compartment Confidence
plasma membrane 5
extracellular 4
lysosome 2
cytoskeleton 1
nucleus 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EFNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005604 basement membrane IEA --
GO:0005886 plasma membrane TAS --
GO:0005901 caveola IEA --
GO:0005912 adherens junction IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EFNA5: view

Pathways & Interactions for EFNA5 Gene

genes like me logo Genes that share pathways with EFNA5: view

SIGNOR curated interactions for EFNA5 Gene

Activates:

Gene Ontology (GO) - Biological Process for EFNA5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001934 positive regulation of protein phosphorylation NAS 19036963
GO:0006915 NOT apoptotic process IDA 11870224
GO:0007171 activation of transmembrane receptor protein tyrosine kinase activity IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9245480
genes like me logo Genes that share ontologies with EFNA5: view

Drugs & Compounds for EFNA5 Gene

(5) Drugs for EFNA5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for EFNA5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EFNA5: view

Transcripts for EFNA5 Gene

mRNA/cDNA for EFNA5 Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFNA5 Gene

Ephrin-A5:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFNA5 Gene

No ASD Table

Relevant External Links for EFNA5 Gene

GeneLoc Exon Structure for
EFNA5
ECgene alternative splicing isoforms for
EFNA5

Expression for EFNA5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFNA5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EFNA5 Gene

This gene is overexpressed in Ovary (25.9), Testis (23.9), and Frontal cortex (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EFNA5 Gene



Protein tissue co-expression partners for EFNA5 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFNA5 Gene:

EFNA5

SOURCE GeneReport for Unigene cluster for EFNA5 Gene:

Hs.288741

Evidence on tissue expression from TISSUES for EFNA5 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with EFNA5: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFNA5 Gene

Orthologs for EFNA5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFNA5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFNA5 34 33
  • 99.85 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFNA5 34
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efna5 16 34 33
  • 96.64 (n)
rat
(Rattus norvegicus)
Mammalia Efna5 33
  • 96.35 (n)
dog
(Canis familiaris)
Mammalia EFNA5 34
  • 96 (a)
OneToOne
LOC608458 33
  • 95.75 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFNA5 34
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFNA5 34 33
  • 92.84 (n)
OneToOne
chicken
(Gallus gallus)
Aves EFNA5 34 33
  • 87.79 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFNA5 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efna5 33
  • 84.43 (n)
Str.16764 33
zebrafish
(Danio rerio)
Actinopterygii efna5b 34 33 33
  • 74.24 (n)
OneToMany
efna5a 34
  • 60 (a)
OneToMany
Species where no ortholog for EFNA5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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 EFNA5 Gene

ENSEMBL:
Gene Tree for EFNA5 (if available)
TreeFam:
Gene Tree for EFNA5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFNA5: view image

Paralogs for EFNA5 Gene

Paralogs for EFNA5 Gene

(4) SIMAP similar genes for EFNA5 Gene using alignment to 4 proteins:

  • EFNA5_HUMAN
  • D6RDV5_HUMAN
  • L8E7B5_HUMAN
  • L8E8V0_HUMAN
genes like me logo Genes that share paralogs with EFNA5: view

Variants for EFNA5 Gene

Sequence variations from dbSNP and Humsavar for EFNA5 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000008660 -- 107,538,433(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000019048 -- 107,596,049(-) A/G genic_upstream_transcript_variant, intron_variant
rs1000055955 -- 107,655,734(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000064338 -- 107,376,388(-) T/C
rs1000082383 -- 107,549,562(-) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFNA5 Gene

Variant ID Type Subtype PubMed ID
dgv1635e212 CNV loss 25503493
dgv1636e212 CNV loss 25503493
esv1464984 CNV deletion 17803354
esv2036103 CNV deletion 18987734
esv2633190 CNV deletion 19546169
esv2666449 CNV deletion 23128226
esv2671807 CNV deletion 23128226
esv2730573 CNV deletion 23290073
esv2730574 CNV deletion 23290073
esv2730575 CNV deletion 23290073
esv2730576 CNV deletion 23290073
esv3330676 CNV insertion 20981092
esv3381925 CNV insertion 20981092
esv34018 CNV loss 18971310
esv3443682 CNV insertion 20981092
esv3566419 CNV deletion 23714750
esv3606196 CNV loss 21293372
esv3606198 CNV loss 21293372
nsv1017067 CNV loss 25217958
nsv1074861 CNV deletion 25765185
nsv1121649 CNV deletion 24896259
nsv1151450 CNV deletion 26484159
nsv328213 CNV deletion 16902084
nsv328216 CNV insertion 16902084
nsv462379 CNV gain 19166990
nsv471037 CNV gain 18288195
nsv4949 CNV insertion 18451855
nsv527761 CNV loss 19592680
nsv599334 CNV gain 21841781
nsv819976 CNV gain 19587683
nsv820161 CNV loss 19587683

Variation tolerance for EFNA5 Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.68; 14.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFNA5 Gene

Human Gene Mutation Database (HGMD)
EFNA5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFNA5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNA5 Gene

Disorders for EFNA5 Gene

MalaCards: The human disease database

(3) MalaCards diseases for EFNA5 Gene - From: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search EFNA5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFNA5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EFNA5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFNA5 Gene

Publications for EFNA5 Gene

  1. Crystal structure of the human ephrin-A5 ectodomain. (PMID: 17400922) Nikolov D … Himanen J (Protein science : a publication of the Protein Society 2007) 3 4 22 58
  2. Ephrin-A5 induces rounding, blebbing and de-adhesion of EphA3-expressing 293T and melanoma cells by CrkII and Rho-mediated signalling. (PMID: 11870224) Lawrenson ID … Lackmann M (Journal of cell science 2002) 3 4 22 58
  3. Compartmentalized signaling by GPI-anchored ephrin-A5 requires the Fyn tyrosine kinase to regulate cellular adhesion. (PMID: 10601038) Davy A … Robbins SM (Genes & development 1999) 3 4 22 58
  4. LERK-7: a ligand of the Eph-related kinases is developmentally regulated in the brain. (PMID: 9245480) Kozlosky CJ … Carpenter MK (Cytokine 1997) 2 3 4 58
  5. 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 44 58

Products for EFNA5 Gene

Sources for EFNA5 Gene

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