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; AllianceGenome:HGNC:3227
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; ephrin-B2
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
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Genomic context

Location:: 13q33.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (106489745..106535662, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (105710156..105756072, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (107142093..107188010, 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?

Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology.
Title: Discovery and Characterization of Ephrin B2 and EphB4 Dysregulation and Novel Mutations in Cerebral Cavernous Malformations: In Vitro and Patient-Derived Evidence of Ephrin-Mediated Endothelial Cell Pathophysiology.
EphrinB2 drives osteogenic fate of adult cardiac fibroblasts in a calcium influx dependent manner.
Title: EphrinB2 drives osteogenic fate of adult cardiac fibroblasts in a calcium influx dependent manner.
EphrinB2 promotes the human aortic smooth muscle cell growth and migration via mediating F-actin remodeling.
Title: EphrinB2 promotes the human aortic smooth muscle cell growth and migration via mediating F-actin remodeling.
Elevated ITGA5 facilitates hyperactivated mTORC1-mediated progression of laryngeal squamous cell carcinoma via upregulation of EFNB2.
Title: Elevated ITGA5 facilitates hyperactivated mTORC1-mediated progression of laryngeal squamous cell carcinoma via upregulation of EFNB2.
EphrinB2-EphB4 Signaling in Neurooncological Disease.
Title: EphrinB2-EphB4 Signaling in Neurooncological Disease.
The differential expression of EPHB4 and ephrin B2 in cutaneous squamous cell carcinoma according to the grade of tumor differentiation: a clinicopathological study.
Title: The differential expression of EPHB4 and ephrin B2 in cutaneous squamous cell carcinoma according to the grade of tumor differentiation: a clinicopathological study.
EphrinB2 expression in prostate adenocarcinoma: Implications for targeted therapy.
Title: EphrinB2 expression in prostate adenocarcinoma: Implications for targeted therapy.
Polymorphisms in the Angiogenesis-Related Genes EFNB2, MMP2 and JAG1 Are Associated with Survival of Colorectal Cancer Patients.
Title: Polymorphisms in the Angiogenesis-Related Genes EFNB2, MMP2 and JAG1 Are Associated with Survival of Colorectal Cancer Patients.
EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.
Title: EPH receptor B2 stimulates human monocyte adhesion and migration independently of its EphrinB ligands.
Delta-Like 4-Notch signaling regulates trophoblast migration and invasion by targeting EphrinB2.
Title: Delta-Like 4-Notch signaling regulates trophoblast migration and invasion by targeting EphrinB2.

Submit: New GeneRIF Correction See all GeneRIFs (109)

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

Gene Ontology Provided by GOA

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

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

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
located_in adherens junction	IEA Inferred from Electronic Annotation more info
located_in focal adhesion	HDA more info	PubMed
is_active_in glutamatergic synapse	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in postsynaptic density membrane	IEA Inferred from Electronic Annotation more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor 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 precursor

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 precursor

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, Q5JV56

Related

ENSP00000493716.1, ENST00000646441.1

Conserved Domains (1) summary

cd10426
Location:29 → 165

Ephrin-B_Ectodomain; Ectodomain of Ephrin B