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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
  • EC 2.7.10.1 4 58
  • 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 58
  • EphB4 2
  • HFASD 3

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 Akt Signaling and Nanog in Mammalian ESC Pluripotency. 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

Regulatory Elements for EPHB4 Gene

Enhancers for EPHB4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H100835 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.8 -9.3 -9315 2 PKNOX1 ARNT SIN3A FEZF1 ZNF2 YY1 ZNF766 CBX5 ZNF143 SP3 SRRT TRIM4 ZNF3 GIGYF1 STAG3L5P AP4M1 ENSG00000242798 PPP1R35 MEPCE PILRB
GH07H100799 1.6 Ensembl ENCODE dbSUPER 17.3 +23.1 23077 10 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A YBX1 DMAP1 ZBTB7B GIGYF1 TRIM4 ZNF3 SRRT STAG3L5P PPP1R35 MOSPD3 PCOLCE ENSG00000242798 EPHB4
GH07H100475 1.4 ENCODE dbSUPER 19 +349.8 349767 4 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZBTB7B ZSCAN25 TRIM4 GIGYF1 ZNF3 ZNF655 SRRT AP4M1 ENSG00000242798 STAG3L5P PILRA
GH07H100823 1.4 ENCODE dbSUPER 17.1 +0.4 406 6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 TRIM4 EPHB4 SRRT ZNF3 GIGYF1 STAG3L5P ENSG00000242798 PPP1R35 ACHE AP4M1
GH07H099996 1.8 VISTA Ensembl ENCODE dbSUPER 10.7 +829.8 829814 2 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YBX1 YY1 ETS1 SLC30A9 TRIM4 ZSCAN25 ZNF3 ZNF394 ZNF655 PCOLCE PTCD1 LOC100419643 SMURF1 SRRT
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPHB4 on UCSC Golden Path with GeneCards custom track

Promoters for EPHB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000327508 221 2601 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 DEK

Genomic Location for EPHB4 Gene

Chromosome:
7
Start:
100,802,565 bp from pter
End:
100,827,521 bp from pter
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

Selected DME Specific Peptides for EPHB4 Gene

P54760:
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • RWTAPEAI
  • WSYGIVMWEVMS
  • RKFTSASD
  • EDLLRIG
  • YIDPFTYEDPNEAV
  • YVHRDLAARNILVN
  • SDPTYTS
  • GERPYWD
  • NLVCKVSDFGLSR
  • MSNQDVI
  • LDKMIRNP
  • REFAKEID
  • TEFMENG
  • NIIRLEGV
  • GFYLAFQD
  • DGQFTVIQL
  • EASIMGQF
  • QLMLDCW
  • LMLDCWQK
  • LAGHQKKIL
  • GYTERQR
  • LDYEVKY

Post-translational modifications for EPHB4 Gene

  • Phosphorylated; autophosphorylation is stimulated by EFNB2.
  • Glycosylation at posLast=203203, isoforms=2, 4335, and isoforms=2426
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHB4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPHB4 (EphB4)

Domains & Families for EPHB4 Gene

Gene Families for EPHB4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • 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

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
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 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.

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:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA,IDA 8188704
GO:0005003 ephrin receptor activity IDA 12734395
GO:0005515 protein binding IPI 16867992
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHB4
  • Applied Biological Materials Clones for EPHB4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 8188704
GO:0016020 membrane IEA --
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

(17) Drugs for EPHB4 Gene - From: DrugBank, ApexBio, 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 289
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
N'-(3-CHLORO-4-METHOXY-PHENYL)-N-(3,4,5-TRIMETHOXYPHENYL)-1,3,5-TRIAZINE-2,4-DIAMINE Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
KYL
676657-00-4

(1) Tocris Compounds for EPHB4 Gene

Compound Action Cas Number
KYL EphA4 kinase inhibitor; neuroprotective 676657-00-4

(2) ApexBio Compounds for EPHB4 Gene

Compound Action Cas Number
ALW-II-41-27 Eph receptor inhibitor 1186206-79-0
NVP-BHG712 EphB4 inhibitor,potent and selective 940310-85-0
genes like me logo Genes that share compounds with EPHB4: view

Drug Products

Transcripts for EPHB4 Gene

Unigene Clusters for EPHB4 Gene

EPH receptor B4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHB4
  • Applied Biological Materials Clones for EPHB4
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, PaxDb, 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

Primer Products

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 33 34
  • 90.68 (n)
dog
(Canis familiaris)
Mammalia EPHB4 33 34
  • 89.36 (n)
oppossum
(Monodelphis domestica)
Mammalia EPHB4 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHB4 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ephb4 33 16 34
  • 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 33 34
  • 64.1 (n)
ephb4b 34
  • 60 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Eph 35 34
  • 38 (a)
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)

Paralogs for EPHB4 Gene

Variants for EPHB4 Gene

Sequence variations from dbSNP and Humsavar for EPHB4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs267601191 A metastatic melanoma sample 100,819,817(+) CCAGG(A/G)GGGCA reference, missense
rs762016655 A gastric adenocarcinoma sample 100,805,514(+) CTCCC(A/G)GGCCA reference, missense
VAR_078063 Hydrops fetalis, non-immune, and/or atrial septal defect (HFASD) [MIM:617300]
VAR_078064 Hydrops fetalis, non-immune, and/or atrial septal defect (HFASD) [MIM:617300]
rs1057515420 Likely pathogenic 100,819,874(-) GGCTC(C/T)GCGGA reference, missense

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)

Relevant External Links for EPHB4 Gene

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

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

Disorders for EPHB4 Gene

MalaCards: The human disease database

(6) 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, non-immune, and/or atrial septal defect
hydrops fetalis
  • familial non-immune hydrops fetalis
immune hydrops fetalis
  • ihf
arteriovenous malformation
  • arteriovenous hemangioma
intracranial hemorrhage in brain cerebrovascular malformations
  • arteriovenous malformations of the brain
- 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.

Relevant External Links for EPHB4

Genetic Association Database (GAD)
EPHB4
Human Genome Epidemiology (HuGE) Navigator
EPHB4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPHB4
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 60
  2. 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 60
  3. EphB4 controls blood vascular morphogenesis during postnatal angiogenesis. (PMID: 16424904) Erber R … Vajkoczy P (The EMBO journal 2006) 3 4 22 60
  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 60
  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 60

Products for EPHB4 Gene

  • Addgene plasmids for EPHB4

Sources for EPHB4 Gene

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