This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) clas... See more...

Aliases for EFNA4 Gene

Aliases for EFNA4 Gene

  • Ephrin A4 2 3 5
  • Ephrin-A4 2 3 4
  • LERK4 2 3 4
  • EPH-Related Receptor Tyrosine Kinase Ligand 4 2 4
  • LERK-4 3 4
  • EPLG4 3 4
  • Eph-Related Receptor Tyrosine Kinase Ligand 4 3
  • Ligand Of Eph-Related Kinase 4 3
  • EFNA4 5
  • EFL4 3

External Ids for EFNA4 Gene

Previous HGNC Symbols for EFNA4 Gene

  • EPLG4

Previous GeneCards Identifiers for EFNA4 Gene

  • GC01M148220
  • GC01P150808
  • GC01P151811
  • GC01P152253
  • GC01P151849
  • GC01P153302
  • GC01P155036
  • GC01P126398

Summaries for EFNA4 Gene

Entrez Gene Summary for EFNA4 Gene

  • This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNA class ephrin. Three transcript variants that encode distinct proteins have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for EFNA4 Gene

EFNA4 (Ephrin A4) is a Protein Coding gene. Diseases associated with EFNA4 include Abnormal Retinal Correspondence and Binocular Vision Disease. Among its related pathways are Guidance Cues and Growth Cone Motility and Ras signaling pathway. Gene Ontology (GO) annotations related to this gene include ephrin receptor binding and transmembrane-ephrin receptor activity. An important paralog of this gene is EFNA2.

UniProtKB/Swiss-Prot Summary for EFNA4 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. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils.

Gene Wiki entry for EFNA4 Gene

Additional gene information for EFNA4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFNA4 Gene

Genomics for EFNA4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFNA4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFNA4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFNA4

Top Transcription factor binding sites by QIAGEN in the EFNA4 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for EFNA4 Gene

Genomic Locations for EFNA4 Gene
chr1:155,063,737-155,069,553
(GRCh38/hg38)
Size:
5,817 bases
Orientation:
Plus strand
chr1:155,036,207-155,042,029
(GRCh37/hg19)
Size:
5,823 bases
Orientation:
Plus strand

Genomic View for EFNA4 Gene

Genes around EFNA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNA4 Gene

Proteins for EFNA4 Gene

  • Protein details for EFNA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52798-EFNA4_HUMAN
    Recommended name:
    Ephrin-A4
    Protein Accession:
    P52798
    Secondary Accessions:
    • C9JHJ8
    • G3XAK2
    • O95457
    • Q5SR71
    • Q6FI57

    Protein attributes for EFNA4 Gene

    Size:
    201 amino acids
    Molecular mass:
    22386 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for EFNA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFNA4 Gene

Post-translational modifications for EFNA4 Gene

  • Glycosylation at Asn33
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • EFNA4_HUMAN (1211)

Other Protein References for EFNA4 Gene

No data available for DME Specific Peptides for EFNA4 Gene

Domains & Families for EFNA4 Gene

Gene Families for EFNA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for EFNA4 Gene

InterPro:
Blocks:
  • Ephrin signature
ProtoNet:

Suggested Antigen Peptide Sequences for EFNA4 Gene

GenScript: Design optimal peptide antigens:
  • EPH-related receptor tyrosine kinase ligand 4 (EFNA4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P52798

UniProtKB/Swiss-Prot:

EFNA4_HUMAN :
  • Belongs to the ephrin family.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA4: view

Function for EFNA4 Gene

Molecular function for EFNA4 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. May play a role in the interaction between activated B-lymphocytes and dendritic cells in tonsils.
GENATLAS Biochemistry:
ephrin A-4,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated axonal guidance

Phenotypes From GWAS Catalog for EFNA4 Gene

Gene Ontology (GO) - Molecular Function for EFNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005005 transmembrane-ephrin receptor activity TAS 8660976
GO:0005515 protein binding IPI 15777695
GO:0046875 ephrin receptor binding IPI 15777695
genes like me logo Genes that share ontologies with EFNA4: view
genes like me logo Genes that share phenotypes with EFNA4: view

Animal Models for EFNA4 Gene

MGI Knock Outs for EFNA4:
  • Efna4 Efna4<tm1.1(KOMP)Vlcg>

Animal Model Products

  • Taconic Biosciences Mouse Models for EFNA4

CRISPR Products

miRNA for EFNA4 Gene

miRTarBase miRNAs that target EFNA4

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFNA4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFNA4 Gene

Localization for EFNA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNA4 Gene

[Isoform 1]: Cell membrane. Lipid-anchor, GPI-anchor.
[Isoform 2]: Secreted.

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 EFNA4 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for EFNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0031226 intrinsic component of plasma membrane TAS 8660976
genes like me logo Genes that share ontologies with EFNA4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFNA4 Gene

Pathways & Interactions for EFNA4 Gene

genes like me logo Genes that share pathways with EFNA4: view

Pathways by source for EFNA4 Gene

3 GeneGo (Thomson Reuters) pathways for EFNA4 Gene
  • Cell adhesion Ephrins signaling
  • G-protein signaling_RhoA regulation pathway
  • Neurophysiological process Receptor-mediated axon growth repulsion
3 Qiagen pathways for EFNA4 Gene
  • EphrinA-EphR Signaling
  • Ephrin-Eph Signaling
  • Guidance Cues and Growth Cone Motility

SIGNOR curated interactions for EFNA4 Gene

Activates:

Gene Ontology (GO) - Biological Process for EFNA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling TAS 8660976
GO:0007411 axon guidance IBA 21873635
GO:0030316 osteoclast differentiation IBA --
GO:0046849 bone remodeling IBA --
GO:0048013 ephrin receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with EFNA4: view

Drugs & Compounds for EFNA4 Gene

(1) Drugs for EFNA4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EFNA4: view

Transcripts for EFNA4 Gene

mRNA/cDNA for EFNA4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFNA4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFNA4 Gene

No ASD Table

Relevant External Links for EFNA4 Gene

GeneLoc Exon Structure for
EFNA4

Expression for EFNA4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFNA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFNA4 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x4.8) and Skin - Not Sun Exposed (Suprapubic) (x4.4).

Protein differential expression in normal tissues from HIPED for EFNA4 Gene

This gene is overexpressed in Lymph node (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFNA4 Gene



Protein tissue co-expression partners for EFNA4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFNA4

SOURCE GeneReport for Unigene cluster for EFNA4 Gene:

Hs.449913

mRNA Expression by UniProt/SwissProt for EFNA4 Gene:

P52798-EFNA4_HUMAN
Tissue specificity: Expressed in the adult spleen, lymph node, prostate, ovary, small intestine, and colon, and in fetal heart, lung, liver and kidney. Also detected in hematopoietic cell lines.

Evidence on tissue expression from TISSUES for EFNA4 Gene

  • Nervous system(3.2)
  • Skin(2.5)
  • Eye(2.5)
  • Heart(2.3)
  • Muscle(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with EFNA4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EFNA4 Gene

Orthologs for EFNA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFNA4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EFNA4 30 31
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EFNA4 30 31
  • 87.64 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFNA4 30 31
  • 86.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Efna4 30 17 31
  • 85.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Efna4 30
  • 85.14 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EFNA4 31
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EFNA4 31
  • 69 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC100003450 30
  • 56.18 (n)
Species where no ortholog for EFNA4 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for EFNA4 Gene

ENSEMBL:
Gene Tree for EFNA4 (if available)
TreeFam:
Gene Tree for EFNA4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFNA4: view image

Paralogs for EFNA4 Gene

Paralogs for EFNA4 Gene

(4) SIMAP similar genes for EFNA4 Gene using alignment to 1 proteins:

  • EFNA4_HUMAN
genes like me logo Genes that share paralogs with EFNA4: view

Variants for EFNA4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFNA4 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
710307 Benign: not provided 155,066,988(+) C/T SYNONYMOUS_VARIANT
713545 Likely Benign: not provided 155,069,013(+) C/G MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for EFNA4 Gene

Structural Variations from Database of Genomic Variants (DGV) for EFNA4 Gene

Variant ID Type Subtype PubMed ID
esv3587615 CNV gain 21293372
esv3587616 CNV gain 21293372
nsv509502 CNV insertion 20534489
nsv952212 CNV deletion 24416366

Variation tolerance for EFNA4 Gene

Residual Variation Intolerance Score: 76.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.55; 11.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFNA4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFNA4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNA4 Gene

Disorders for EFNA4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EFNA4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
abnormal retinal correspondence
binocular vision disease
  • simultaneous visual perception without fusion
craniosynostosis
  • craniostenosis
lateral displacement of eye
  • lateral displacement of globe
craniofrontonasal syndrome
  • cfns
- elite association - COSMIC cancer census association via MalaCards
Search EFNA4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFNA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with EFNA4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFNA4 Gene

Publications for EFNA4 Gene

  1. A splice variant of human ephrin-A4 encodes a soluble molecule that is secreted by activated human B lymphocytes. (PMID: 10607706) Aasheim HC … Logtenberg T (Blood 2000) 3 4 23
  2. The genes encoding the eph-related receptor tyrosine kinase ligands LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4, Epl4) are clustered on human chromosome 1 and mouse chromosome 3. (PMID: 8660976) Cerretti DP … Morris SW (Genomics 1996) 2 3 23
  3. Ephrin A4 expression in osteosarcoma, impact on prognosis, and patient outcome. (PMID: 20071790) Abdou AG … Abdallaha R (Indian journal of cancer 2010) 3 23
  4. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (PMID: 20643727) Wilkie AO … Wall SA (Pediatrics 2010) 3 41
  5. An impaired transendothelial migration potential of chronic lymphocytic leukemia (CLL) cells can be linked to ephrin-A4 expression. (PMID: 19828693) Trinidad EM … Alonso-Colmenar LM (Blood 2009) 3 23

Products for EFNA4 Gene

  • Boster Bio Antibodies for EFNA4
  • Boster Bio ELISA Kits for EFNA4

Sources for EFNA4 Gene