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Aliases for EPHA6 Gene

Aliases for EPHA6 Gene

  • EPH Receptor A6 2 3 5
  • EPH Homology Kinase 2 3 4
  • EPH-Like Kinase 12 3 4
  • EC 2.7.10.1 4 56
  • EHK-2 3 4
  • HEK12 3 4
  • EHK2 3 4
  • EK12 3 4
  • Ephrin Type-A Receptor 6 3
  • Ephrin Receptor EphA6 3
  • EC 2.7.10 56
  • PRO57066 3
  • EPA6 3

External Ids for EPHA6 Gene

Previous GeneCards Identifiers for EPHA6 Gene

  • GC03P097855
  • GC03P098641
  • GC03P098017
  • GC03P096533
  • GC03P093902

Summaries for EPHA6 Gene

GeneCards Summary for EPHA6 Gene

EPHA6 (EPH Receptor A6) is a Protein Coding gene. Diseases associated with EPHA6 include Oculoauricular Syndrome. Among its related pathways are Development Slit-Robo signaling and EPH-Ephrin 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 for EPHA6 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 (By similarity).

Tocris Summary for EPHA6 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 EPHA6 Gene

Additional gene information for EPHA6 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHA6 Gene

Genomics for EPHA6 Gene

GeneHancer (GH) Regulatory Elements for EPHA6 Gene

Promoters and enhancers for EPHA6 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
GH03I096813 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 554.8 -0.6 -611 1.7 ZNF76 SIN3A RAD21 ZNF335 GLIS2 ELK1 ZNF366 ZNF143 BCLAF1 ZNF654 EPHA6 GC03M096776
GH03I097439 Promoter 0.6 EPDnew 550 +625.0 625010 0.1 SP1 LOC101929278 EPHA6 GC03M097451
GH03I097481 Enhancer 0.3 FANTOM5 29.3 +667.1 667085 0.1 ENSG00000251172 PIR61764 EPHA6 GC03M097484
GH03I096266 Enhancer 0.6 ENCODE 5.4 -547.6 -547591 1 JUN CEBPB EP300 ZNF217 JUND GATA3 FOS FOSL2 HNF4A EPHA6 ENSG00000271671 HNRNPKP4
GH03I096959 Enhancer 0.7 ENCODE dbSUPER 4.5 +146.2 146215 2.9 JUND CEBPB EP300 PRDM1 GC03M096952 EPHA6 GC03P097123
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPHA6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPHA6 gene promoter:

Genomic Locations for EPHA6 Gene

Genomic Locations for EPHA6 Gene
chr3:96,814,581-97,764,977
(GRCh38/hg38)
Size:
950,397 bases
Orientation:
Plus strand
chr3:96,533,425-97,471,304
(GRCh37/hg19)

Genomic View for EPHA6 Gene

Genes around EPHA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHA6 Gene

Proteins for EPHA6 Gene

  • Protein details for EPHA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UF33-EPHA6_HUMAN
    Recommended name:
    Ephrin type-A receptor 6
    Protein Accession:
    Q9UF33
    Secondary Accessions:
    • D6RAL5

    Protein attributes for EPHA6 Gene

    Size:
    1036 amino acids
    Molecular mass:
    116379 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).

    Alternative splice isoforms for EPHA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA6 Gene

Selected DME Specific Peptides for EPHA6 Gene

Q9UF33:
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • RWTAPEAI
  • WSYGIVMWEVMS
  • DTGGRKD
  • CKETFNL
  • LEDDPEAAYTT
  • KKCPFTV
  • GMKYLSDM
  • AQKIYVE
  • DTIAADE
  • YVHRDLAARNILVN
  • LAMFPDT
  • LDKLIRNP
  • ALVSVRV
  • TYQVCNV
  • NWLRTNW
  • SLVEVRG
  • LEGVVTKS
  • NLVCKVSDFGLSR
  • MSNQDVI
  • WEVMSYGERPY
  • KFTLRDCNS
  • SGMKYLSDM
  • QNNWLRT
  • YFRAEKDPPSMAC
  • GFYLAFQD
  • NIIRLEGV
  • EEGYRLP
  • EGYRLPAPM
  • EASIMGQF
  • SYGERPYW
  • IMGQFDHPNII
  • DMGYVHRDLAARNIL
  • ACRPGFYKA

Post-translational modifications for EPHA6 Gene

  • Glycosylation at posLast=343343, posLast=397397, and posLast=410410
  • Modification sites at PhosphoSitePlus

Domains & Families for EPHA6 Gene

Gene Families for EPHA6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UF33

UniProtKB/Swiss-Prot:

EPHA6_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 EPHA6: view

Function for EPHA6 Gene

Molecular function for EPHA6 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
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 (By similarity).

Enzyme Numbers (IUBMB) for EPHA6 Gene

Phenotypes From GWAS Catalog for EPHA6 Gene

Gene Ontology (GO) - Molecular Function for EPHA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005003 ephrin receptor activity IEA --
genes like me logo Genes that share ontologies with EPHA6: view
genes like me logo Genes that share phenotypes with EPHA6: view

Animal Models for EPHA6 Gene

MGI Knock Outs for EPHA6:

Animal Model Products

  • Taconic Biosciences Mouse Models for EPHA6

Clone Products

  • Addgene plasmids for EPHA6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPHA6 Gene

Localization for EPHA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA6 Gene

Membrane; Single-pass type I membrane protein.

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 EPHA6 gene
Compartment Confidence
plasma membrane 5
nucleus 5
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for EPHA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EPHA6: view

Pathways & Interactions for EPHA6 Gene

genes like me logo Genes that share pathways with EPHA6: view

SIGNOR curated interactions for EPHA6 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPHA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0008150 biological_process ND --
GO:0016310 phosphorylation IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with EPHA6: view

Drugs & Compounds for EPHA6 Gene

No Compound Related Data Available

Transcripts for EPHA6 Gene

mRNA/cDNA for EPHA6 Gene

Unigene Clusters for EPHA6 Gene

EPH receptor A6:
Representative Sequences:

Clone Products

  • Addgene plasmids for EPHA6

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA6 Gene

No ASD Table

Relevant External Links for EPHA6 Gene

GeneLoc Exon Structure for
EPHA6
ECgene alternative splicing isoforms for
EPHA6

Expression for EPHA6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHA6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHA6 Gene

This gene is overexpressed in Testis (x12.4) and Colon - Sigmoid (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of EPHA6 Gene:

EPHA6

SOURCE GeneReport for Unigene cluster for EPHA6 Gene:

Hs.653244

mRNA Expression by UniProt/SwissProt for EPHA6 Gene:

Q9UF33-EPHA6_HUMAN
Tissue specificity: Expressed in brain and testis.

Evidence on tissue expression from TISSUES for EPHA6 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with EPHA6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHA6 Gene

Orthologs for EPHA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EPHA6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHA6 34 33
  • 99.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPHA6 34 33
  • 94.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPHA6 34 33
  • 93.85 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHA6 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Epha6 16 34 33
  • 89.98 (n)
rat
(Rattus norvegicus)
Mammalia Epha6 33
  • 89.69 (n)
chicken
(Gallus gallus)
Aves EPHA6 34 33
  • 84.57 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epha6 33
  • 77.52 (n)
zebrafish
(Danio rerio)
Actinopterygii epha6 34 33
  • 70.56 (n)
OneToOne
Species where no ortholog for EPHA6 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 EPHA6 Gene

ENSEMBL:
Gene Tree for EPHA6 (if available)
TreeFam:
Gene Tree for EPHA6 (if available)

Paralogs for EPHA6 Gene

Paralogs for EPHA6 Gene

genes like me logo Genes that share paralogs with EPHA6: view

Variants for EPHA6 Gene

Sequence variations from dbSNP and Humsavar for EPHA6 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000000119 -- 97,567,452(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000002752 -- 97,525,579(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000005818 -- 97,375,840(+) T/G genic_downstream_transcript_variant, genic_upstream_transcript_variant, intron_variant
rs1000013011 -- 97,564,183(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000014488 -- 96,955,465(+) G/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for EPHA6 Gene

Variant ID Type Subtype PubMed ID
dgv292n21 CNV loss 19592680
dgv8453n54 CNV loss 21841781
esv2057806 CNV deletion 18987734
esv2532432 CNV deletion 19546169
esv2576077 CNV deletion 19546169
esv2642819 CNV deletion 19546169
esv2660713 CNV deletion 23128226
esv2666202 CNV deletion 23128226
esv26708 CNV loss 19812545
esv2677088 CNV deletion 23128226
esv2725667 CNV deletion 23290073
esv2759162 CNV gain+loss 17122850
esv2762340 CNV loss 21179565
esv2763286 CNV gain 21179565
esv3303964 CNV mobile element insertion 20981092
esv3304437 CNV mobile element insertion 20981092
esv33274 CNV gain 17666407
esv3353681 CNV insertion 20981092
esv3362435 CNV insertion 20981092
esv33674 CNV loss 17666407
esv3381636 CNV insertion 20981092
esv3442150 CNV insertion 20981092
esv3562251 CNV deletion 23714750
esv3562252 CNV deletion 23714750
esv3562254 CNV deletion 23714750
esv3568929 CNV loss 25503493
esv3597084 CNV gain 21293372
esv3597086 CNV loss 21293372
esv3597090 CNV loss 21293372
esv3597091 CNV loss 21293372
esv3597092 CNV loss 21293372
esv3597093 CNV loss 21293372
esv3597094 CNV loss 21293372
esv3597096 CNV loss 21293372
esv3597097 CNV loss 21293372
esv3597101 CNV loss 21293372
esv8320 CNV gain 19470904
nsv1011526 CNV gain 25217958
nsv1013060 CNV gain 25217958
nsv10292 CNV loss 18304495
nsv3913 CNV insertion 18451855
nsv428419 CNV gain 18775914
nsv520553 CNV gain 19592680
nsv591041 CNV loss 21841781
nsv591042 CNV loss 21841781
nsv834772 CNV gain 17160897
nsv965190 CNV duplication 23825009
nsv979859 CNV duplication 23825009
nsv999900 CNV loss 25217958

Variation tolerance for EPHA6 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.42; 54.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHA6 Gene

Human Gene Mutation Database (HGMD)
EPHA6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA6 Gene

Disorders for EPHA6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPHA6 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
oculoauricular syndrome
  • ocacs
- elite association - COSMIC cancer census association via MalaCards
Search EPHA6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHA6

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 EPHA6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHA6 Gene

Publications for EPHA6 Gene

  1. 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
  2. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M … Iwata N (Biological psychiatry 2010) 3 44 58
  3. A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (PMID: 20950786) Glessner JT … Grant SF (American journal of human genetics 2010) 3 44 58
  4. Gradients of Eph-A6 expression in primate retina suggest roles in both vascular and axon guidance. (PMID: 20011078) Kozulin P … Provis JM (Molecular vision 2009) 3 22 58
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 3 4 58

Products for EPHA6 Gene

  • Addgene plasmids for EPHA6

Sources for EPHA6 Gene

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