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Aliases for EFNA2 Gene

Aliases for EFNA2 Gene

  • Ephrin A2 2 3 5
  • HEK7 Ligand 3 4
  • Ephrin-A2 2 3
  • HEK7-L 3 4
  • LERK-6 3 4
  • EPLG6 3 4
  • LERK6 3 4
  • Eph-Related Receptor Tyrosine Kinase Ligand 6 3
  • EPH-Related Receptor Tyrosine Kinase Ligand 6 4
  • ELF-1 3

External Ids for EFNA2 Gene

Previous HGNC Symbols for EFNA2 Gene

  • EPLG6

Previous GeneCards Identifiers for EFNA2 Gene

  • GC19P001344
  • GC19P001226
  • GC19P001237
  • GC19P001070

Summaries for EFNA2 Gene

Entrez Gene Summary for EFNA2 Gene

  • This gene encodes a member of the ephrin family. The protein is composed of a signal sequence, a receptor-binding region, a spacer region, and a hydrophobic region. 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. 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. Posttranslational modifications determine whether this protein localizes to the nucleus or the cytoplasm. [provided by RefSeq, Jul 2008]

CIViC summary for EFNA2 Gene

GeneCards Summary for EFNA2 Gene

EFNA2 (Ephrin A2) is a Protein Coding gene. Among its related pathways are Development Slit-Robo signaling and EPH-Ephrin signaling. Gene Ontology (GO) annotations related to this gene include ephrin receptor binding. An important paralog of this gene is EFNA5.

UniProtKB/Swiss-Prot for EFNA2 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. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity).

Gene Wiki entry for EFNA2 Gene

Additional gene information for EFNA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFNA2 Gene

Genomics for EFNA2 Gene

GeneHancer (GH) Regulatory Elements for EFNA2 Gene

Promoters and enhancers for EFNA2 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
GH19I001285 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 550.8 +0.1 98 0.7 E2F1 ZBTB10 ZNF335 CTCF POLR2A GLIS1 EFNA2 GC19M001296
GH19I001283 Enhancer 1.1 FANTOM5 ENCODE 562.9 -1.6 -1620 2.5 ELF3 MLX ARID4B DMAP1 THRB ZNF48 RARA YY1 ZNF335 GLIS2 EFNA2 C19orf24 REEP6 GAMT ONECUT3
GH19I001236 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.7 -29.3 -29295 41.1 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 CIRBP C19orf24 MIDN CBARP ATP5F1D SF3A2 TCF3 TMEM259 LOC100288123 PTBP1
GH19I001353 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.2 +69.2 69164 2.9 PKNOX1 ATF1 ARID4B FEZF1 DMAP1 ZNF2 YY1 POLR2B GLIS2 E2F8 MUM1 RPS15P9 EFNA2 C19orf24 GC19P001362
GH19I001324 Enhancer 1.2 Ensembl ENCODE 12.8 +39.0 38987 1.6 ATF1 FOXA2 ZFP64 ARID4B FEZF1 DMAP1 ZNF48 ZNF121 GLIS2 ZNF213 GC19P001326 ENSG00000267372 SF3A2 MUM1 EFNA2 DAZAP1 MIER2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFNA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFNA2 gene promoter:

Genomic Locations for EFNA2 Gene

Genomic Locations for EFNA2 Gene
chr19:1,286,154-1,301,431
(GRCh38/hg38)
Size:
15,278 bases
Orientation:
Plus strand
chr19:1,286,153-1,301,430
(GRCh37/hg19)

Genomic View for EFNA2 Gene

Genes around EFNA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFNA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFNA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFNA2 Gene

Proteins for EFNA2 Gene

  • Protein details for EFNA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43921-EFNA2_HUMAN
    Recommended name:
    Ephrin-A2
    Protein Accession:
    O43921
    Secondary Accessions:
    • O76020

    Protein attributes for EFNA2 Gene

    Size:
    213 amino acids
    Molecular mass:
    23878 Da
    Quaternary structure:
    • Binds to the receptor tyrosine kinases EPHA3, EPHA4 and EPHA5. Interacts with EPHA8; activates EPHA8.

    Three dimensional structures from OCA and Proteopedia for EFNA2 Gene

neXtProt entry for EFNA2 Gene

Post-translational modifications for EFNA2 Gene

  • Glycosylation at posLast=4242, Asn174, and posLast=188188
  • Modification sites at PhosphoSitePlus

Other Protein References for EFNA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFNA2 Gene

Domains & Families for EFNA2 Gene

Gene Families for EFNA2 Gene

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

Protein Domains for EFNA2 Gene

Suggested Antigen Peptide Sequences for EFNA2 Gene

Graphical View of Domain Structure for InterPro Entry

O43921

UniProtKB/Swiss-Prot:

EFNA2_HUMAN :
  • Belongs to the ephrin family.
Family:
  • Belongs to the ephrin family.
genes like me logo Genes that share domains with EFNA2: view

Function for EFNA2 Gene

Molecular function for EFNA2 Gene

GENATLAS Biochemistry:
ephrin A2,EPH-related receptor tyrosine kinase,class A,ligand expressed in fetal brain and intestin,in adult lung and intestine
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. With the EPHA2 receptor may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis (By similarity).

Phenotypes From GWAS Catalog for EFNA2 Gene

Gene Ontology (GO) - Molecular Function for EFNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19836338
GO:0046875 ephrin receptor binding IBA,TAS --
genes like me logo Genes that share ontologies with EFNA2: view
genes like me logo Genes that share phenotypes with EFNA2: view

Animal Models for EFNA2 Gene

MGI Knock Outs for EFNA2:

Animal Model Products

  • Taconic Biosciences Mouse Models for EFNA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EFNA2 Gene

Localization for EFNA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFNA2 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 EFNA2 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 1
endosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for EFNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IBA --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
GO:0031594 neuromuscular junction IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with EFNA2: view

Pathways & Interactions for EFNA2 Gene

genes like me logo Genes that share pathways with EFNA2: view

SIGNOR curated interactions for EFNA2 Gene

Gene Ontology (GO) - Biological Process for EFNA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007267 cell-cell signaling TAS 9826538
GO:0007411 axon guidance IEA,IBA --
GO:0021772 olfactory bulb development IEA --
GO:0030316 osteoclast differentiation IEA,ISS --
GO:0046849 bone remodeling IEA,ISS --
genes like me logo Genes that share ontologies with EFNA2: view

Drugs & Compounds for EFNA2 Gene

(1) Drugs for EFNA2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with EFNA2: view

Transcripts for EFNA2 Gene

mRNA/cDNA for EFNA2 Gene

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

Unigene Clusters for EFNA2 Gene

Ephrin-A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFNA2 Gene

No ASD Table

Relevant External Links for EFNA2 Gene

GeneLoc Exon Structure for
EFNA2
ECgene alternative splicing isoforms for
EFNA2

Expression for EFNA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EFNA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFNA2 Gene

This gene is overexpressed in Colon - Transverse (x15.1), Liver (x12.6), and Small Intestine - Terminal Ileum (x7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for EFNA2 Gene



Protein tissue co-expression partners for EFNA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFNA2 Gene:

EFNA2

SOURCE GeneReport for Unigene cluster for EFNA2 Gene:

Hs.741510

Evidence on tissue expression from TISSUES for EFNA2 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with EFNA2: view

No data available for Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EFNA2 Gene

Orthologs for EFNA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFNA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFNA2 33 34
  • 99.6 (n)
cow
(Bos Taurus)
Mammalia EFNA2 33 34
  • 92.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EFNA2 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efna2 33 16 34
  • 86.12 (n)
rat
(Rattus norvegicus)
Mammalia Efna2 33
  • 85.49 (n)
oppossum
(Monodelphis domestica)
Mammalia EFNA2 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFNA2 33
  • 80.48 (n)
lizard
(Anolis carolinensis)
Reptilia EFNA2 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efna2 33
  • 69.33 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100332852 33
  • 66.27 (n)
EFNA2 (2 of 2) 34
  • 58 (a)
OneToMany
efna2 34
  • 56 (a)
OneToMany
Species where no ortholog for EFNA2 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)
  • dog (Canis familiaris)
  • 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 EFNA2 Gene

ENSEMBL:
Gene Tree for EFNA2 (if available)
TreeFam:
Gene Tree for EFNA2 (if available)

Paralogs for EFNA2 Gene

Paralogs for EFNA2 Gene

(4) SIMAP similar genes for EFNA2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with EFNA2: view

Variants for EFNA2 Gene

Sequence variations from dbSNP and Humsavar for EFNA2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000042799 -- 1,288,779(+) C/T intron_variant
rs1000098646 -- 1,292,827(+) G/A intron_variant
rs1000203327 -- 1,301,724(+) G/A downstream_transcript_variant
rs1000279026 -- 1,286,851(+) G/A intron_variant
rs1000452244 -- 1,283,038(+) C/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for EFNA2 Gene

Variant ID Type Subtype PubMed ID
dgv136n111 CNV deletion 26073780
esv2758743 CNV gain+loss 17122850
esv3643389 CNV gain 21293372
esv3643390 CNV loss 21293372
esv3643391 CNV gain 21293372
nsv1055164 CNV gain 25217958
nsv1060536 CNV gain 25217958
nsv1144851 CNV deletion 24896259
nsv1160555 CNV deletion 26073780
nsv470103 CNV gain 18288195
nsv470104 CNV loss 18288195
nsv953941 CNV deletion 24416366
nsv9662 CNV gain 18304495

Variation tolerance for EFNA2 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.17; 3.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EFNA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFNA2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFNA2 Gene

Disorders for EFNA2 Gene

Additional Disease Information for EFNA2

No disorders were found for EFNA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFNA2 Gene

Publications for EFNA2 Gene

  1. Characterization of the genes for mouse LERK-3/Ephrin-A3 (Epl3), mouse LERK-4/Ephrin-A4 (Epl4), and human LERK-6/Ephrin-A2 (EPLG6): conservation of intron/exon structure. (PMID: 9465306) Cerretti DP … Nelson N (Genomics 1998) 3 4 22 58
  2. Cloning, chromosal mapping, and tissue expression of the gene encoding the human Eph-family kinase ligand ephrin-A2. (PMID: 9826538) Aasheim HC … Logtenberg T (Biochemical and biophysical research communications 1998) 3 4 22 58
  3. Structural plasticity of eph receptor A4 facilitates cross-class ephrin signaling. (PMID: 19836338) Bowden TA … Jones EY (Structure (London, England : 1993) 2009) 3 4 58
  4. Elf-1 binds to GGAA elements on the FcRgamma promoter and represses its expression. (PMID: 17878388) Juang YT … Tsokos GC (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 22 58
  5. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58

Products for EFNA2 Gene

Sources for EFNA2 Gene

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