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Aliases for EPHB4 Gene

Aliases for EPHB4 Gene

  • EPH Receptor B4 2 3 5
  • Tyrosine-Protein Kinase TYRO11 3 4
  • Hepatoma Transmembrane Kinase 3 4
  • TYRO11 3 4
  • MYK1 3 4
  • HTK 3 4
  • Tyrosine-Protein Kinase Receptor HTK 3
  • Ephrin Type-B Receptor 4 3
  • Soluble EPHB4 Variant 1 3
  • Soluble EPHB4 Variant 2 3
  • Soluble EPHB4 Variant 3 3
  • Ephrin Receptor EphB4 3
  • EC 2.7.10.1 4
  • HFASD 3
  • EphB4 2

External Ids for EPHB4 Gene

Previous HGNC Symbols for EPHB4 Gene

  • HTK

Previous GeneCards Identifiers for EPHB4 Gene

  • GC07M098934
  • GC07M099997
  • GC07M100011
  • GC07M100044
  • GC07M100238
  • GC07M100402
  • GC07M095030

Summaries for EPHB4 Gene

Entrez Gene Summary for EPHB4 Gene

  • Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, 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. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]

CIViC summary for EPHB4 Gene

GeneCards Summary for EPHB4 Gene

EPHB4 (EPH Receptor B4) is a Protein Coding gene. Diseases associated with EPHB4 include Hydrops Fetalis, Nonimmune, And/Or Atrial Septal Defect and Hydrops Fetalis. 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 EPHB3.

UniProtKB/Swiss-Prot for EPHB4 Gene

  • Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B 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. Together with its cognate ligand/functional ligand EFNB2 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation form EFNB2-expressing cells. Plays also a role in postnatal blood vessel remodeling, morphogenesis and permeability and is thus important in the context of tumor angiogenesis.

Tocris Summary for EPHB4 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 EPHB4 Gene

Additional gene information for EPHB4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHB4 Gene

Genomics for EPHB4 Gene

GeneHancer (GH) Regulatory Elements for EPHB4 Gene

Promoters and enhancers for EPHB4 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
GH07J100823 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 667.1 +0.4 405 6.7 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 EPHB4 SLC12A9 ZNF3 TRIM4 GIGYF1 SRRT STAG3L5P ENSG00000242798 PPP1R35 PILRB
GH07J100475 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19 +349.8 349766 4.4 HDGF PKNOX1 FOXA2 SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 TSC22D4 ZSCAN25 SRRT TRIM4 GIGYF1 ZNF655 ZNF3 ENSG00000242798 STAG3L5P PPP1R35
GH07J100835 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -9.3 -9314 2.5 PKNOX1 CLOCK ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF213 ZNF3 SRRT TRIM4 GIGYF1 STAG3L5P PPP1R35 ENSG00000242798 AP4M1 PILRB MEPCE
GH07J100799 Enhancer 1.5 Ensembl ENCODE dbSUPER 17.3 +23.1 23076 10.1 HDGF HNRNPUL1 PKNOX1 SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A YBX1 TRIM4 GIGYF1 ZNF3 SRRT PPP1R35 STAG3L5P ENSG00000242798 PCOLCE PILRB AP4M1
GH07J100672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10 +150.5 150529 8.6 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF548 GNB2 GC07P100676 TRIM4 ZNF3 GIGYF1 SRRT PCOLCE STAG3L5P PPP1R35 ENSG00000242798
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EPHB4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPHB4 gene promoter:
  • AP-1
  • p53
  • E47
  • p300
  • Lmo2
  • AREB6
  • AP-2rep

Genomic Locations for EPHB4 Gene

Genomic Locations for EPHB4 Gene
chr7:100,802,565-100,827,521
(GRCh38/hg38)
Size:
24,957 bases
Orientation:
Minus strand
chr7:100,400,187-100,425,143
(GRCh37/hg19)
Size:
24,957 bases
Orientation:
Minus strand

Genomic View for EPHB4 Gene

Genes around EPHB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHB4 Gene

Proteins for EPHB4 Gene

  • Protein details for EPHB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54760-EPHB4_HUMAN
    Recommended name:
    Ephrin type-B receptor 4
    Protein Accession:
    P54760
    Secondary Accessions:
    • B5A970
    • B5A971
    • B5A972
    • Q7Z635
    • Q9BTA5
    • Q9BXP0

    Protein attributes for EPHB4 Gene

    Size:
    987 amino acids
    Molecular mass:
    108270 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).

    Three dimensional structures from OCA and Proteopedia for EPHB4 Gene

    Alternative splice isoforms for EPHB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHB4 Gene

Post-translational modifications for EPHB4 Gene

  • Phosphorylated; autophosphorylation is stimulated by EFNB2.
  • Glycosylation at isoforms=2426, Asn335, and Asn203
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHB4 Gene

No data available for DME Specific Peptides for EPHB4 Gene

Domains & Families for EPHB4 Gene

Gene Families for EPHB4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

P54760

UniProtKB/Swiss-Prot:

EPHB4_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 EPHB4: view

Function for EPHB4 Gene

Molecular function for EPHB4 Gene

UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B 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. Together with its cognate ligand/functional ligand EFNB2 plays a central role in heart morphogenesis and angiogenesis through regulation of cell adhesion and cell migration. EPHB4-mediated forward signaling controls cellular repulsion and segregation form EFNB2-expressing cells. Plays also a role in postnatal blood vessel remodeling, morphogenesis and permeability and is thus important in the context of tumor angiogenesis.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
GENATLAS Biochemistry:
EPH-related tyrosine kinase receptor,binding ephrin B4,expressed in projecting neurons and their target fields,involved in short-range contact-mediated axonal guidance,also involved in angiogenesis by marking venous but not arterial endothelial cells

Enzyme Numbers (IUBMB) for EPHB4 Gene

Phenotypes From GWAS Catalog for EPHB4 Gene

Gene Ontology (GO) - Molecular Function for EPHB4 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 IEA,IBA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IDA,IEA 8188704
GO:0004888 transmembrane signaling receptor activity IBA --
genes like me logo Genes that share ontologies with EPHB4: view
genes like me logo Genes that share phenotypes with EPHB4: view

Animal Models for EPHB4 Gene

MGI Knock Outs for EPHB4:

Animal Model Products

Clone Products

  • Addgene plasmids for EPHB4

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPHB4 Gene

Localization for EPHB4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHB4 Gene

Cell 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 EPHB4 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for EPHB4 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 IDA 8188704
genes like me logo Genes that share ontologies with EPHB4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EPHB4 Gene

Pathways & Interactions for EPHB4 Gene

genes like me logo Genes that share pathways with EPHB4: view

SIGNOR curated interactions for EPHB4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for EPHB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis ISS --
GO:0002042 cell migration involved in sprouting angiogenesis IDA 12734395
GO:0003007 heart morphogenesis ISS --
GO:0006468 protein phosphorylation IEA --
GO:0007155 cell adhesion IDA 12734395
genes like me logo Genes that share ontologies with EPHB4: view

Drugs & Compounds for EPHB4 Gene

(18) Drugs for EPHB4 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Target Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 295
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Sprycel Approved June 2006 Pharma 0
3-({4-[(5-CHLORO-1,3-BENZODIOXOL-4-YL)AMINO]PYRIMIDIN-2-YL}AMINO)BENZAMIDE Experimental Pharma Target 0
3-({4-[(5-chloro-1,3-benzodioxol-4-yl)amino]pyrimidin-2-yl}amino)benzenesulfonamide Experimental Pharma Target 0

(4) Additional Compounds for EPHB4 Gene - From: Novoseek, HMDB, and Tocris

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
KYL
676657-00-4
NVP BHG 712
940310-85-0

(2) Tocris Compounds for EPHB4 Gene

Compound Action Cas Number
KYL EphA4 kinase inhibitor; neuroprotective 676657-00-4
NVP BHG 712 Potent EphB4 kinase inhibitor 940310-85-0
genes like me logo Genes that share compounds with EPHB4: view

Transcripts for EPHB4 Gene

mRNA/cDNA for EPHB4 Gene

Unigene Clusters for EPHB4 Gene

EPH receptor B4:
Representative Sequences:

Clone Products

  • Addgene plasmids for EPHB4

Alternative Splicing Database (ASD) splice patterns (SP) for EPHB4 Gene

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

Relevant External Links for EPHB4 Gene

GeneLoc Exon Structure for
EPHB4
ECgene alternative splicing isoforms for
EPHB4

Expression for EPHB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPHB4 Gene

This gene is overexpressed in Urine (32.5) and Uterus (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EPHB4 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPHB4 Gene:

EPHB4

SOURCE GeneReport for Unigene cluster for EPHB4 Gene:

Hs.437008

mRNA Expression by UniProt/SwissProt for EPHB4 Gene:

P54760-EPHB4_HUMAN
Tissue specificity: Abundantly expressed in placenta but also detected in kidney, liver, lung, pancreas, skeletal muscle and heart. Expressed in primitive and myeloid, but not lymphoid, hematopoietic cells. Also observed in cell lines derived from liver, breast, colon, lung, melanocyte and cervix.

Evidence on tissue expression from TISSUES for EPHB4 Gene

  • Liver(4.3)
  • Pancreas(4.2)
  • Heart(2.7)
  • Lung(2.1)
  • Muscle(2)
genes like me logo Genes that share expression patterns with EPHB4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHB4 Gene

Orthologs for EPHB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHB4 34 33
  • 99.7 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EPHB4 34 33
  • 90.68 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EPHB4 34 33
  • 89.36 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPHB4 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHB4 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ephb4 16 34 33
  • 86.47 (n)
rat
(Rattus norvegicus)
Mammalia Ephb4 33
  • 86.16 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3205 33
African clawed frog
(Xenopus laevis)
Amphibia ephB4a 33
zebrafish
(Danio rerio)
Actinopterygii ephb4a 34 33
  • 64.1 (n)
OneToMany
ephb4b 34
  • 60 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Eph 34 35
  • 36 (a)
OneToMany
hop 35
  • 35 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 42 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
CSA.1664 34
  • 38 (a)
ManyToMany
CSA.7809 34
  • 37 (a)
ManyToMany
Species where no ortholog for EPHB4 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)
  • 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 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 EPHB4 Gene

ENSEMBL:
Gene Tree for EPHB4 (if available)
TreeFam:
Gene Tree for EPHB4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EPHB4: view image

Paralogs for EPHB4 Gene

Paralogs for EPHB4 Gene

(23) SIMAP similar genes for EPHB4 Gene using alignment to 7 proteins:

  • EPHB4_HUMAN
  • B5A970_HUMAN
  • B5A971_HUMAN
  • B5A972_HUMAN
  • Q541P7_HUMAN
  • Q7Z635_HUMAN
  • Q96L35_HUMAN
genes like me logo Genes that share paralogs with EPHB4: view

Variants for EPHB4 Gene

Sequence variations from dbSNP and Humsavar for EPHB4 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1057515420 likely-pathogenic, Tetralogy of Fallot 100,819,874(-) G/A coding_sequence_variant, missense_variant
rs1057519263 fetalis, non-immune, and/or atrial septal defect (HFASD) [MIM:617300], risk-factor, Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to 100,807,483(-) C/T coding_sequence_variant, missense_variant
rs1057519264 fetalis, non-immune, and/or atrial septal defect (HFASD) [MIM:617300], risk-factor, Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to 100,806,559(-) A/C coding_sequence_variant, missense_variant
rs267601191 A metastatic melanoma sample 100,819,817(-) G/A coding_sequence_variant, missense_variant
rs762016655 A gastric adenocarcinoma sample 100,805,514(-) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for EPHB4 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV deletion 23290073
esv2759547 CNV gain+loss 17122850
nsv1020837 CNV loss 25217958
nsv1076935 CNV deletion 25765185
nsv470381 CNV loss 18288195
nsv607965 CNV loss 21841781
nsv607966 CNV loss 21841781
nsv951388 CNV deletion 24416366

Variation tolerance for EPHB4 Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHB4 Gene

Human Gene Mutation Database (HGMD)
EPHB4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHB4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHB4 Gene

Disorders for EPHB4 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EPHB4 Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hydrops fetalis, nonimmune, and/or atrial septal defect
  • hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
hydrops fetalis
  • familial non-immune hydrops fetalis
capillary malformation-arteriovenous malformation
  • cmavm
hydrops fetalis, nonimmune
  • nihf
arteriovenous malformation
  • arteriovenous hemangioma
- elite association - COSMIC cancer census association via MalaCards
Search EPHB4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPHB4_HUMAN
  • Hydrops fetalis, non-immune, and/or atrial septal defect (HFASD) [MIM:617300]: A form of non-immune hydrops fetalis, a condition characterized by fluid accumulation in at least 2 fetal compartments, including abdominal cavities, pleura, and pericardium, or in body tissue. The majority of hydrops fetalis cases are non-immune conditions that present with generalized edema of the fetus. Approximately 15% of non-immune cases result from a lymphatic abnormality. HFASD is an autosomal dominant, lymphatic-related form with variable expressivity. Some patients suffer from severe manifestations that can result in early death, whereas others have milder clinical features, such as atrial septal defect or varicose veins as adults. The hydrops and/or swelling improves spontaneously in those who survive the neonatal period. {ECO:0000269 PubMed:27400125}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EPHB4

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 EPHB4: view

No data available for Genatlas for EPHB4 Gene

Publications for EPHB4 Gene

  1. Cloning and characterization of HTK, a novel transmembrane tyrosine kinase of the EPH subfamily. (PMID: 8188704) Bennett BD … Scadden DT (The Journal of biological chemistry 1994) 2 3 4 22 58
  2. EphB4 controls blood vascular morphogenesis during postnatal angiogenesis. (PMID: 16424904) Erber R … Vajkoczy P (The EMBO journal 2006) 3 4 22 58
  3. Structural and biophysical characterization of the EphB4*ephrinB2 protein-protein interaction and receptor specificity. (PMID: 16867992) Chrencik JE … Kuhn P (The Journal of biological chemistry 2006) 3 4 22 58
  4. Forward EphB4 signaling in endothelial cells controls cellular repulsion and segregation from ephrinB2 positive cells. (PMID: 12734395) Füller T … Augustin HG (Journal of cell science 2003) 3 4 22 58
  5. EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. (PMID: 27400125) Martin-Almedina S … Ostergaard P (The Journal of clinical investigation 2016) 3 4 58

Products for EPHB4 Gene