EFNB2 ephrin B2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EFNB2provided by HGNC
Official Full Name: ephrin B2provided by HGNC
Primary source: HGNC:HGNC:3227
See related: Ensembl:ENSG00000125266 MIM:600527
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTKL; EPLG5; Htk-L; LERK5
Summary: This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially in the nervous system and in erythropoiesis. 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. This gene encodes an EFNB class ephrin which binds to the EPHB4 and EPHA3 receptors. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in lung (RPKM 8.5), colon (RPKM 7.4) and 23 other tissues See more
Orthologs: mouse all

Genomic context

Location:: 13q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	13	NC_000013.11 (106489745..106535662, complement)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (107142079..107187388, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The effects of ephrinB2 signaling on proliferation and invasion in glioblastoma multiforme.
Title: The effects of ephrinB2 signaling on proliferation and invasion in glioblastoma multiforme.
EphrinB2/EphB4 signaling regulates the capacity of dental pulp stem cells to induce sprouting angiogenesis
Title: EphrinB2/EphB4 Signaling Regulates DPSCs to Induce Sprouting Angiogenesis of Endothelial Cells.
In vitro study in breast cancer cells indicated that EFNB2 expression was associated with a lower cell proliferation, migration and motility. Public datasets analysis confirmed that a high EFNB2 gene expression was associated with a longer recurrence-free survival, whereas a high EPHB4 expression indicated a poor prognosis, particularly for the group of patients whose tumors expressed EPHB4 in the absence of EFNB2.
Title: Ephrin‑B2 inhibits cell proliferation and motility in vitro and predicts longer metastasis‑free survival in breast cancer.
findings present EphB4-ephrin-B2 inhibition as an alternative to anti-PDL1 therapeutics that can be used in combination with radiation to induce an effective antitumor immune response in patients with HNSCC
Title: Inhibition of EphB4-Ephrin-B2 Signaling Reprograms the Tumor Immune Microenvironment in Head and Neck Cancers.
TAD1822-7 is a potential anti-angiogenic agent that can inhibit the viability and migration of Bel-7402 cells via suppression of EphrinB2 and the related signaling pathways.
Title: Inhibitory effect of taspine derivative TAD1822-7 on tumor cell growth and angiogenesis via suppression of EphrinB2 and related signaling pathways.
haploinsufficiency of the EFNB2 could be at the origin of several clinical features reported in 13qter deletions.
Title: EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.
induction of human liver cancer cell apoptosis by B10 could be augmented upon EphrinB2 knockdown. B10 inhibited HCC cell growth and induced HCC cell apoptosis by repressing the EphrinB2 and VEGFR2 signalling pathway
Title: HMQ-T-B10 induces human liver cell apoptosis by competitively targeting EphrinB2 and regulating its pathway.
Silencing Ephrin-B2 in pericytes (PCs) significantly reduced PC migration and PC/endothelial cells (EC) co-culture angiogenic properties.
Title: Inhibition of Ephrin-B2 in brain pericytes decreases cerebral pathological neovascularization in diabetic rats.
Our findings underscore the importance of adopting rational drug combinations to enhance therapeutic effect. Our study documenting enhanced response of HNSCC to cetuximab-RT with EphB4-ephrin-B2 blockade has the potential to translate into the clinic to benefit this patient population
Title: Inhibition of EphB4-Ephrin-B2 Signaling Enhances Response to Cetuximab-Radiation Therapy in Head and Neck Cancers.
The results demonstrate that ephrin-B2 and Dll4 mediated co-dependence of hepatocellular carcinoma and endothelial progenitor cells intercellular crosstalk in the initial stages of hepatocellular carcinoma establishment and development.
Title: Tumor-endothelial cell interaction in an experimental model of human hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (97)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Efnb2 (e-PCR), detects polymorphism
- UniSTS:495877

EFNB2 (e-PCR)
- UniSTS:505379

Efnb2 (e-PCR), detects polymorphism
- UniSTS:496712

A004R47 (e-PCR)
- UniSTS:40789

D13S501E (e-PCR)
- UniSTS:153227

G20597 (e-PCR)
- UniSTS:35489

A005Y24 (e-PCR)
- UniSTS:35490

EFNB2_1594 (e-PCR)
- UniSTS:277190

RH104438 (e-PCR)
- UniSTS:98763

RH15749 (e-PCR)
- UniSTS:3550

NoName (e-PCR)
- UniSTS:481523

RH123297 (e-PCR)
- UniSTS:135674

NoName (e-PCR)
- UniSTS:482044

Homology

Homologs of the EFNB2 gene: The EFNB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 333 organisms have orthologs with human gene EFNB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ephrin receptor binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ephrin receptor binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
virus receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
T cell costimulation	IEA Inferred from Electronic Annotation more info
adherens junction organization	IEA Inferred from Electronic Annotation more info
anatomical structure morphogenesis	TAS Traceable Author Statement more info	PubMed
animal organ morphogenesis	IEA Inferred from Electronic Annotation more info
axon guidance	IBA Inferred from Biological aspect of Ancestor more info	PubMed
blood vessel morphogenesis	IBA Inferred from Biological aspect of Ancestor more info	PubMed
cell adhesion	IDA Inferred from Direct Assay more info	PubMed
cell migration involved in sprouting angiogenesis	IDA Inferred from Direct Assay more info	PubMed
cell-cell signaling	TAS Traceable Author Statement more info	PubMed
ephrin receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info	PubMed
ephrin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
ephrin receptor signaling pathway	TAS Traceable Author Statement more info
lymph vessel development	IEA Inferred from Electronic Annotation more info
negative regulation of keratinocyte proliferation	IEA Inferred from Electronic Annotation more info
negative regulation of neuron projection development	IDA Inferred from Direct Assay more info	PubMed
nephric duct morphogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of aorta morphogenesis	IEA Inferred from Electronic Annotation more info
positive regulation of cardiac muscle cell differentiation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
positive regulation of cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of neuron death	IDA Inferred from Direct Assay more info	PubMed
presynapse assembly	IEA Inferred from Electronic Annotation more info
regulation of chemotaxis	IDA Inferred from Direct Assay more info	PubMed
regulation of postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info
venous blood vessel morphogenesis	IEA Inferred from Electronic Annotation more info
viral entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
adherens junction	IEA Inferred from Electronic Annotation more info
focal adhesion	HDA more info	PubMed
glutamatergic synapse	IEA Inferred from Electronic Annotation more info
integral component of plasma membrane	TAS Traceable Author Statement more info	PubMed
integral component of postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
integral component of presynaptic membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IBA Inferred from Biological aspect of Ancestor more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ephrin-B2

Names: HTK ligand; eph-related receptor tyrosine kinase ligand 5; ligand of eph-related kinase 5

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001372056.1 → NP_001358985.1 ephrin-B2 isoform 2

Status: REVIEWED

Source sequence(s)

AL138689, KF455823

Conserved Domains (1) summary

cl19115
Location:29 → 142

Cupredoxin; Cupredoxin superfamily
NM_001372057.1 → NP_001358986.1 ephrin-B2 isoform 3

Status: REVIEWED

Source sequence(s)

AL138689, KF455823

Conserved Domains (1) summary

cd10426
Location:29 → 165

Ephrin-B_Ectodomain; Ectodomain of Ephrin B
NM_001372058.1 → NP_001358987.1 ephrin-B2 isoform 4 precursor

Status: REVIEWED

Source sequence(s)

AL138689

Conserved Domains (1) summary

cl19115
Location:29 → 136

Cupredoxin; Cupredoxin superfamily
NM_004093.4 → NP_004084.1 ephrin-B2 isoform 1 precursor

See identical proteins and their annotated locations for NP_004084.1

Status: REVIEWED

Source sequence(s)

AL138689, KF455823

Consensus CDS

CCDS9507.1

UniProtKB/Swiss-Prot

P52799

Related

ENSP00000493716.1, ENST00000646441.1

Conserved Domains (1) summary

cd10426
Location:29 → 165

Ephrin-B_Ectodomain; Ectodomain of Ephrin B