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Aliases for EPHB6 Gene

Aliases for EPHB6 Gene

  • EPH Receptor B6 2 3 5
  • Tyrosine-Protein Kinase-Defective Receptor EPH-6 3 4
  • HEP 3 4
  • Human Kinase-Defective Eph-Family Receptor Protein 3
  • Ephrin Type-B Receptor 6 3
  • EphB6 2

External Ids for EPHB6 Gene

Previous GeneCards Identifiers for EPHB6 Gene

  • GC07P140878
  • GC07P141946
  • GC07P142023
  • GC07P142069
  • GC07P142262
  • GC07P142552
  • GC07P136891
  • GC07P142859
  • GC07P142920
  • GC07P143058
  • GC07P143203
  • GC07P143397
  • GC07P143544
  • GC07P143676
  • GC07P143817

Summaries for EPHB6 Gene

Entrez Gene Summary for EPHB6 Gene

  • This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a functional kinase domain. Activity of this protein can influence cell adhesion and migration. Expression of this gene is downregulated during tumor progression, suggesting that the protein may suppress tumor invasion and metastasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for EPHB6 Gene

EPHB6 (EPH Receptor B6) is a Protein Coding gene. Diseases associated with EPHB6 include Good Syndrome. Among its related pathways are ERK Signaling and Akt 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 EPHB1.

UniProtKB/Swiss-Prot for EPHB6 Gene

  • Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2.

Tocris Summary for EPHB6 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 EPHB6 Gene

Additional gene information for EPHB6 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHB6 Gene

Genomics for EPHB6 Gene

GeneHancer (GH) Regulatory Elements for EPHB6 Gene

Promoters and enhancers for EPHB6 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
GH07J142853 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 667.1 +0.8 778 3.7 HDGF ARNT SIN3A ZNF121 GLIS2 ARID2 ZNF143 ZFP91 KLF7 FOS EPHB6 TRBV30 GC07P144048
GH07J143248 Enhancer 1.1 Ensembl ENCODE 9.3 +395.4 395360 2.6 ELF3 MLX ARID4B RAD21 RARA ETS1 YY1 ZNF280A ZNF614 EGR1 TMEM139 LOC105375545 CASP2 RN7SL535P FAM131B EPHB6 GSTK1 LOC105375546
GH07J142805 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 5.9 -45.9 -45906 5.7 HDGF PKNOX1 SMAD1 IRF4 NCOA2 TCF12 GATA2 ZNF143 ATF7 FOS TRBV30 TRPV6 GSTK1 EPHB6 TCAF1P1 TRPV5 CASP2 GC07M142813 TRBC2 TRB
GH07J142956 Enhancer 0.9 ENCODE 10.2 +103.1 103082 3.1 HDAC1 TCF12 SIRT6 FOS NCOA1 ZEB2 ELF1 ZNF148 MTA1 GMEB1 EPHB6 KEL TCAF1 LLCFC1
GH07J142908 Enhancer 0.8 Ensembl ENCODE 11.2 +55.1 55088 2.4 CTCF RXRA MCM5 MNT ELF1 RAD21 NR2F2 CTBP1 ZNF316 IKZF1 CASP2 KEL TRPV5 LLCFC1 LOC154761 EPHB6 TCAF2 RN7SL535P OR9P1P OR6V1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPHB6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPHB6 gene promoter:
  • NF-1
  • NF-1/L
  • CREB
  • deltaCREB
  • HNF-4alpha1
  • HNF-4alpha2
  • Gfi-1

Genomic Locations for EPHB6 Gene

Genomic Locations for EPHB6 Gene
chr7:142,854,643-142,871,094
(GRCh38/hg38)
Size:
16,452 bases
Orientation:
Plus strand
chr7:142,552,792-142,568,847
(GRCh37/hg19)
Size:
16,056 bases
Orientation:
Plus strand

Genomic View for EPHB6 Gene

Genes around EPHB6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHB6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHB6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHB6 Gene

Proteins for EPHB6 Gene

  • Protein details for EPHB6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15197-EPHB6_HUMAN
    Recommended name:
    Ephrin type-B receptor 6
    Protein Accession:
    O15197
    Secondary Accessions:
    • A4D2I7
    • A8CDT5
    • D3DXD3
    • Q2TB23
    • Q2TB24

    Protein attributes for EPHB6 Gene

    Size:
    1021 amino acids
    Molecular mass:
    110700 Da
    Quaternary structure:
    • Interacts with CBL and EPHB1. Interacts with FYN; this interaction takes place in a ligand-independent manner.
    SequenceCaution:
    • Sequence=AAD03058.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI10608.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP20939.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA21560.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAL23775.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAW51902.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for EPHB6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHB6 Gene

Post-translational modifications for EPHB6 Gene

  • Ligand-binding increases phosphorylation on tyrosine residues. Phosphorylation on tyrosine residues is mediated by transphosphorylation by the catalytically active EPHB1 in a ligand-independent manner. Tyrosine phosphorylation of the receptor may act as a switch on the functional transition from cell adhesion/attraction to de-adhesion/repulsion.
  • Glycosylation at isoforms=2, 3480
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EPHB6 Gene

Domains & Families for EPHB6 Gene

Gene Families for EPHB6 Gene

Suggested Antigen Peptide Sequences for EPHB6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O15197

UniProtKB/Swiss-Prot:

EPHB6_HUMAN :
  • The protein kinase domain is predicted to be catalytically inactive. Its extracellular domain is capable of promoting cell adhesion and migration in response to low concentrations of ephrin-B2, but its cytoplasmic domain is essential for cell repulsion and inhibition of migration induced by high concentrations of ephrin-B2.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Domain:
  • The protein kinase domain is predicted to be catalytically inactive. Its extracellular domain is capable of promoting cell adhesion and migration in response to low concentrations of ephrin-B2, but its cytoplasmic domain is essential for cell repulsion and inhibition of migration induced by high concentrations of ephrin-B2.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
genes like me logo Genes that share domains with EPHB6: view

Function for EPHB6 Gene

Molecular function for EPHB6 Gene

UniProtKB/Swiss-Prot Function:
Kinase-defective receptor for members of the ephrin-B family. Binds to ephrin-B1 and ephrin-B2. Modulates cell adhesion and migration by exerting both positive and negative effects upon stimulation with ephrin-B2. Inhibits JNK activation, T-cell receptor-induced IL-2 secretion and CD25 expression upon stimulation with ephrin-B2.
GENATLAS Biochemistry:
EPH-related tyrosine kinase receptor,135kDa,binding ephrin B6,expressed in projecting neurons and their target fields,involved in short-range contact-mediated axonal guidance

Phenotypes From GWAS Catalog for EPHB6 Gene

Gene Ontology (GO) - Molecular Function for EPHB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004709 MAP kinase kinase kinase activity IBA --
GO:0004713 protein tyrosine kinase activity IBA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IBA --
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with EPHB6: view
genes like me logo Genes that share phenotypes with EPHB6: view

Animal Models for EPHB6 Gene

MGI Knock Outs for EPHB6:

Animal Model Products

Clone Products

  • Addgene plasmids for EPHB6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EPHB6 Gene

Localization for EPHB6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHB6 Gene

Membrane; Single-pass type I membrane protein.
Isoform 3: 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 EPHB6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 4
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPHB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
genes like me logo Genes that share ontologies with EPHB6: view

Pathways & Interactions for EPHB6 Gene

genes like me logo Genes that share pathways with EPHB6: view

Gene Ontology (GO) - Biological Process for EPHB6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001806 type IV hypersensitivity IEA --
GO:0002456 T cell mediated immunity IEA --
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0007275 multicellular organism development IBA --
genes like me logo Genes that share ontologies with EPHB6: view

No data available for SIGNOR curated interactions for EPHB6 Gene

Drugs & Compounds for EPHB6 Gene

(3) Drugs for EPHB6 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(1) Additional Compounds for EPHB6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with EPHB6: view

Transcripts for EPHB6 Gene

mRNA/cDNA for EPHB6 Gene

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

Unigene Clusters for EPHB6 Gene

EPH receptor B6:
Representative Sequences:

Clone Products

  • Addgene plasmids for EPHB6

Alternative Splicing Database (ASD) splice patterns (SP) for EPHB6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3: -
SP4: -
SP5:
SP6: -
SP7:

Relevant External Links for EPHB6 Gene

GeneLoc Exon Structure for
EPHB6
ECgene alternative splicing isoforms for
EPHB6

Expression for EPHB6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHB6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHB6 Gene

This gene is overexpressed in Brain - Cortex (x5.2), Skin - Not Sun Exposed (Suprapubic) (x4.5), and Skin - Sun Exposed (Lower leg) (x4.3).

Protein differential expression in normal tissues from HIPED for EPHB6 Gene

This gene is overexpressed in Urine (17.8), Platelet (10.3), Liver (9.9), and Frontal cortex (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EPHB6 Gene



Protein tissue co-expression partners for EPHB6 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPHB6 Gene:

EPHB6

SOURCE GeneReport for Unigene cluster for EPHB6 Gene:

Hs.380089

mRNA Expression by UniProt/SwissProt for EPHB6 Gene:

O15197-EPHB6_HUMAN
Tissue specificity: Expressed in brain. Expressed in non invasive breast carcinoma cell lines (at protein level). Strong expression in brain and pancreas, and weak expression in other tissues, such as heart, placenta, lung, liver, skeletal muscle and kidney. Expressed in breast non invasive tumors but not in metastatic lesions. Isoform 3 is expressed in cell lines of glioblastomas, anaplastic astrocytomas, gliosarcomas and astrocytomas. Isoform 3 is not detected in normal tissues.

Evidence on tissue expression from TISSUES for EPHB6 Gene

  • Nervous system(4.6)
  • Skin(2)
genes like me logo Genes that share expression patterns with EPHB6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHB6 Gene

Orthologs for EPHB6 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHB6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHB6 34 33
  • 99.54 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPHB6 34 33
  • 88.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ephb6 16 34 33
  • 86.74 (n)
rat
(Rattus norvegicus)
Mammalia Ephb6 33
  • 86.25 (n)
oppossum
(Monodelphis domestica)
Mammalia EPHB6 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPHB6 34
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPHB6 34
  • 60 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:dkey-26c10.6 33
  • 55.76 (n)
EPHB6 34
  • 49 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eph 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
ManyToMany
CSA.7809 34
  • 35 (a)
ManyToMany
CSA.1664 34
  • 34 (a)
ManyToMany
-- 34
  • 33 (a)
ManyToMany
Species where no ortholog for EPHB6 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)
  • cow (Bos Taurus)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 EPHB6 Gene

ENSEMBL:
Gene Tree for EPHB6 (if available)
TreeFam:
Gene Tree for EPHB6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPHB6: view image

Paralogs for EPHB6 Gene

Paralogs for EPHB6 Gene

(27) SIMAP similar genes for EPHB6 Gene using alignment to 4 proteins:

  • EPHB6_HUMAN
  • F8WBX3_HUMAN
  • F8WCM8_HUMAN
  • J3KQU5_HUMAN
genes like me logo Genes that share paralogs with EPHB6: view

Variants for EPHB6 Gene

Sequence variations from dbSNP and Humsavar for EPHB6 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_036091 A colorectal cancer sample p.Asp360Asn
VAR_036092 A colorectal cancer sample p.Ala603Pro
VAR_036093 A colorectal cancer sample p.Arg719Gln
VAR_036094 A colorectal cancer sample p.Asp930Gly
VAR_042196 An ovarian mucinous carcinoma sample p.Pro743Ser

Structural Variations from Database of Genomic Variants (DGV) for EPHB6 Gene

Variant ID Type Subtype PubMed ID
esv2759569 CNV loss 17122850
nsv1020332 CNV gain 25217958
nsv1030700 CNV gain 25217958
nsv428187 CNV loss 18775914
nsv520735 CNV loss 19592680
nsv526015 CNV gain 19592680
nsv831168 CNV gain 17160897
nsv949965 CNV deletion 24416366

Variation tolerance for EPHB6 Gene

Residual Variation Intolerance Score: 48.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.50; 88.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHB6 Gene

Human Gene Mutation Database (HGMD)
EPHB6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHB6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHB6 Gene

Disorders for EPHB6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EPHB6 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
good syndrome
  • thymoma with hypogammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards
Search EPHB6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EPHB6

genes like me logo Genes that share disorders with EPHB6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPHB6 Gene

Publications for EPHB6 Gene

  1. Biphasic functions of the kinase-defective Ephb6 receptor in cell adhesion and migration. (PMID: 15955811) Matsuoka H … Nakamoto M (The Journal of biological chemistry 2005) 3 4 22 58
  2. Expression of a kinase-defective Eph-like receptor in the normal human brain. (PMID: 9207182) Matsuoka H … Matsui T (Biochemical and biophysical research communications 1997) 3 4 22 58
  3. DNA-based assay for EPHB6 expression in breast carcinoma cells as a potential diagnostic test for detecting tumor cells in circulation. (PMID: 20181626) Fox BP … Kandpal RP (Cancer genomics & proteomics 2010) 3 22 58
  4. EphB6 receptor significantly alters invasiveness and other phenotypic characteristics of human breast carcinoma cells. (PMID: 19234485) Fox BP … Kandpal RP (Oncogene 2009) 3 4 58
  5. Expression profile of Eph receptors and ephrin ligands in healthy human B lymphocytes and chronic lymphocytic leukemia B-cells. (PMID: 18819711) Alonso-C LM … Zapata AG (Leukemia research 2009) 3 22 58

Products for EPHB6 Gene

  • Addgene plasmids for EPHB6

Sources for EPHB6 Gene

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