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Aliases for EFNA3 Gene

Aliases for EFNA3 Gene

  • Ephrin A3 2 3 5
  • EHK1 Ligand 3 4
  • Ephrin-A3 2 3
  • LERK-3 3 4
  • EPLG3 3 4
  • EFL-2 3 4
  • LERK3 3 4
  • EFL2 3 4
  • Eph-Related Receptor Tyrosine Kinase Ligand 3 3
  • EPH-Related Receptor Tyrosine Kinase Ligand 3 4
  • Ligand Of Eph-Related Kinase 3 3
  • Ehk1-L 3
  • EHK1-L 4

External Ids for EFNA3 Gene

Previous HGNC Symbols for EFNA3 Gene

  • EPLG3

Previous GeneCards Identifiers for EFNA3 Gene

  • GC01P148129
  • GC01M150765
  • GC01P151826
  • GC01P152268
  • GC01P151864
  • GC01P153317
  • GC01P155039
  • GC01P126413

Summaries for EFNA3 Gene

Entrez Gene Summary for EFNA3 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for EFNA3 Gene

EFNA3 (Ephrin A3) is a Protein Coding gene. Diseases associated with EFNA3 include Breast Cancer and Androgenic Alopecia. Among its related pathways are MicroRNAs in cancer 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 ENSG00000251246.

UniProtKB/Swiss-Prot for EFNA3 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 (By similarity).

Gene Wiki entry for EFNA3 Gene

Additional gene information for EFNA3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFNA3 Gene

Genomics for EFNA3 Gene

GeneHancer (GH) Regulatory Elements for EFNA3 Gene

Promoters and enhancers for EFNA3 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
GH01J155084 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 +6.4 6405 2.5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A FEZF1 EFNA3 THBS3 ADAM15 UBAP2L GON4L KHDC4 EFNA1 SLC50A1 ENSG00000271267 KRTCAP2
GH01J155078 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 -0.2 -236 0.7 RB1 ZNF2 ZNF335 ZNF766 GLIS2 GATA2 EGR1 ZNF366 KLF13 CREM EFNA3 ENSG00000251246 DCST1-AS1
GH01J155081 Promoter/Enhancer 1.1 EPDnew dbSUPER 650.7 +1.6 1605 0.1 SP3 ZNF398 ZEB2 KLF14 ZBTB7A GLIS2 KLF16 GLIS1 ZNF341 PATZ1 EFNA3 ENSG00000251246 GC01P155124
GH01J154995 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.5 -83.0 -82971 0.2 BCOR CTCF TEAD4 CEBPG ZNF384 BMI1 ZIC2 RAD21 TEAD3 ZNF316 UBAP2L PYGO2 ADAM15 DCST1-AS1 GON4L DAP3 YY1AP1 EFNA4 ENSG00000251246 EFNA3
GH01J154940 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.4 -135.9 -135859 6 HDGF FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 YBX1 ZNF207 ZNF143 PMVK KCNN3 EFNA3 MSTO2P RUSC1 ADAR CLK2 RUSC1-AS1 GC01M154946 ENSG00000270361
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFNA3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFNA3 gene promoter:
  • p53
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F

Genomic Locations for EFNA3 Gene

Genomic Locations for EFNA3 Gene
chr1:155,078,872-155,087,538
(GRCh38/hg38)
Size:
8,667 bases
Orientation:
Plus strand
chr1:155,036,224-155,060,014
(GRCh37/hg19)
Size:
23,791 bases
Orientation:
Plus strand

Genomic View for EFNA3 Gene

Genes around EFNA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNA3 Gene

Proteins for EFNA3 Gene

  • Protein details for EFNA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52797-EFNA3_HUMAN
    Recommended name:
    Ephrin-A3
    Protein Accession:
    P52797
    Secondary Accessions:
    • B7ZAD3
    • D3DV85
    • Q0VGC9
    • Q5SR70

    Protein attributes for EFNA3 Gene

    Size:
    238 amino acids
    Molecular mass:
    26350 Da
    Quaternary structure:
    • Interacts with EPHA8; activates EPHA8.

    Alternative splice isoforms for EFNA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFNA3 Gene

Post-translational modifications for EFNA3 Gene

  • Glycosylation at isoforms=2100, Asn67, and isoforms=238
  • Modification sites at PhosphoSitePlus

Other Protein References for EFNA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFNA3 Gene

Domains & Families for EFNA3 Gene

Gene Families for EFNA3 Gene

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

Protein Domains for EFNA3 Gene

Graphical View of Domain Structure for InterPro Entry

P52797

UniProtKB/Swiss-Prot:

EFNA3_HUMAN :
  • Belongs to the ephrin family.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA3: view

Function for EFNA3 Gene

Molecular function for EFNA3 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 (By similarity).
GENATLAS Biochemistry:
ephrin A-3,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated axonal guidance

Phenotypes From GWAS Catalog for EFNA3 Gene

Gene Ontology (GO) - Molecular Function for EFNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005005 transmembrane-ephrin receptor activity TAS 8660976
GO:0005515 protein binding IPI 25416956
GO:0046875 ephrin receptor binding IPI 15777695
genes like me logo Genes that share ontologies with EFNA3: view
genes like me logo Genes that share phenotypes with EFNA3: view

Animal Models for EFNA3 Gene

MGI Knock Outs for EFNA3:

Animal Model Products

  • Taconic Biosciences Mouse Models for EFNA3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFNA3 Gene

Localization for EFNA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNA3 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

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 EFNA3 gene
Compartment Confidence
plasma membrane 5
extracellular 1

Gene Ontology (GO) - Cellular Components for EFNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane NAS,TAS --
GO:0005887 integral component of plasma membrane TAS 8660976
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with EFNA3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EFNA3 Gene

Pathways & Interactions for EFNA3 Gene

genes like me logo Genes that share pathways with EFNA3: view

SIGNOR curated interactions for EFNA3 Gene

Gene Ontology (GO) - Biological Process for EFNA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling TAS 8660976
GO:0007411 axon guidance IBA --
GO:0016525 negative regulation of angiogenesis IDA 18417479
GO:0045664 regulation of neuron differentiation IEA --
GO:0048013 ephrin receptor signaling pathway TAS,IGI --
genes like me logo Genes that share ontologies with EFNA3: view

Drugs & Compounds for EFNA3 Gene

(1) Drugs for EFNA3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EFNA3: view

Transcripts for EFNA3 Gene

mRNA/cDNA for EFNA3 Gene

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

Unigene Clusters for EFNA3 Gene

Ephrin-A3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFNA3 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b
SP1: - -
SP2: - -
SP3:
SP4: -

Relevant External Links for EFNA3 Gene

GeneLoc Exon Structure for
EFNA3
ECgene alternative splicing isoforms for
EFNA3

Expression for EFNA3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFNA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFNA3 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x11.7), Skin - Sun Exposed (Lower leg) (x9.8), and Esophagus - Mucosa (x4.3).

Protein differential expression in normal tissues from HIPED for EFNA3 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFNA3 Gene



Protein tissue co-expression partners for EFNA3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFNA3 Gene:

EFNA3

SOURCE GeneReport for Unigene cluster for EFNA3 Gene:

Hs.516656

mRNA Expression by UniProt/SwissProt for EFNA3 Gene:

P52797-EFNA3_HUMAN
Tissue specificity: Expressed in brain, skeletal muscle, spleen, thymus, prostate, testis, ovary, small intestine, and peripheral blood leukocytes.

Evidence on tissue expression from TISSUES for EFNA3 Gene

  • Nervous system(4.3)
  • Intestine(4)
genes like me logo Genes that share expression patterns with EFNA3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EFNA3 Gene

Orthologs for EFNA3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFNA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFNA3 34 33
  • 99.86 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 97 (a)
OneToMany
EFNA3 33
  • 93.52 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 96 (a)
OneToMany
cow
(Bos Taurus)
Mammalia EFNA3 34 33
  • 95.99 (n)
OneToMany
mouse
(Mus musculus)
Mammalia Efna3 16 34 33
  • 93.91 (n)
rat
(Rattus norvegicus)
Mammalia Efna3 33
  • 92.95 (n)
African clawed frog
(Xenopus laevis)
Amphibia efna3-prov 33
zebrafish
(Danio rerio)
Actinopterygii efna3b 34
  • 65 (a)
ManyToMany
efna3a 34
  • 63 (a)
ManyToMany
efna3 33
Species where no ortholog for EFNA3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EFNA3 Gene

ENSEMBL:
Gene Tree for EFNA3 (if available)
TreeFam:
Gene Tree for EFNA3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EFNA3: view image

Paralogs for EFNA3 Gene

Paralogs for EFNA3 Gene

(4) SIMAP similar genes for EFNA3 Gene using alignment to 3 proteins:

  • EFNA3_HUMAN
  • B4DXG7_HUMAN
  • B7ZAD3_HUMAN
genes like me logo Genes that share paralogs with EFNA3: view

Variants for EFNA3 Gene

Sequence variations from dbSNP and Humsavar for EFNA3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000327458 -- 155,084,986(+) G/A intron_variant
rs1000577600 -- 155,078,256(+) C/T upstream_transcript_variant
rs1000717031 -- 155,082,925(+) C/T intron_variant
rs1000907937 -- 155,078,668(+) AAGAAG/AAG upstream_transcript_variant
rs1001560850 -- 155,083,216(+) G/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EFNA3 Gene

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

Variation tolerance for EFNA3 Gene

Residual Variation Intolerance Score: 41.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFNA3 Gene

Human Gene Mutation Database (HGMD)
EFNA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFNA3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNA3 Gene

Disorders for EFNA3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EFNA3 Gene - From: LncRNADisease, HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, familial
androgenic alopecia
  • androgenetic alopecia
- elite association - COSMIC cancer census association via MalaCards
Search EFNA3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EFNA3

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 EFNA3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EFNA3 Gene

Publications for EFNA3 Gene

  1. 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 22 58
  2. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 44 58
  3. MicroRNA-210 modulates endothelial cell response to hypoxia and inhibits the receptor tyrosine kinase ligand Ephrin-A3. (PMID: 18417479) Fasanaro P … Martelli F (The Journal of biological chemistry 2008) 3 22 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for EFNA3 Gene

Sources for EFNA3 Gene

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