EPHB3 EPH receptor B3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EPHB3provided by HGNC
Official Full Name: EPH receptor B3provided by HGNC
Primary source: HGNC:HGNC:3394
See related: Ensembl:ENSG00000182580 MIM:601839; AllianceGenome:HGNC:3394
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: EK2; ETK2; HEK2; TYRO6
Summary: 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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
Expression: Broad expression in skin (RPKM 18.6), stomach (RPKM 10.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.1

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (184561785..184582408)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (187377272..187397899)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (184279573..184300196)

Chromosome 3 - NC_000003.12 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?

EphB3 protein is a potential ancillary diagnostic biomarker for thyroid cancers.
Title: EphB3 protein is a potential ancillary diagnostic biomarker for thyroid cancers.
Up-regulated lncRNA SNHG9 mediates the pathogenesis of dilated cardiomyopathy via miR-326/EPHB3 axis.
Title: Up-regulated lncRNA SNHG9 mediates the pathogenesis of dilated cardiomyopathy via miR-326/EPHB3 axis.
Low Expression of EphB2, EphB3, and EphB4 in Bladder Cancer: Novel Potential Indicators of Muscular Invasion.
Title: Low Expression of EphB2, EphB3, and EphB4 in Bladder Cancer: Novel Potential Indicators of Muscular Invasion.
Expression Profile and Prognostic Significance of EPHB3 in Colorectal Cancer.
Title: Expression Profile and Prognostic Significance of EPHB3 in Colorectal Cancer.
Receptor Tyrosine Kinase EphB3: a Prognostic Indicator in Colorectal Carcinoma.
Title: Receptor Tyrosine Kinase EphB3: a Prognostic Indicator in Colorectal Carcinoma.
Data suggest that receptor-tyrosine kinase HEK2 (EphB3) and phosphatidylinositol 3-kinase catalytic alpha polypeptide (PIK3CA) are cooperating oncogenes that contribute toward its pathogenesis.
Title: Role of EphB3 Receptor in Mediating Head and Neck Tumor Growth, Cell Migration, and Response to PI3K Inhibitor.
phosphorylation of mTOR through signaling by EphB3 is a potential mechanism of AZD4547 resistance in GC cells
Title: Upregulation of EphB3 in gastric cancer with acquired resistance to a FGFR inhibitor.
FOXD2-AS1 acted as a tumor inducer in GC partly through EphB3 inhibition by direct interaction with EZH2 and LSD1.
Title: Upregulation of the long noncoding RNA FOXD2-AS1 promotes carcinogenesis by epigenetically silencing EphB3 through EZH2 and LSD1, and predicts poor prognosis in gastric cancer.
EZH2-mediated epigenetic suppression of EphB3 inhibits gastric cancer proliferation and metastasis by affecting E-cadherin and vimentin expression.
Title: EZH2-mediated epigenetic suppression of EphB3 inhibits gastric cancer proliferation and metastasis by affecting E-cadherin and vimentin expression.
These results indicated the suppressive effect of Form on colon carcinoma cell proliferation and invasion, possibly via miR149induced EphB3 downregulation and the inhibition of the PI3K/AKT and STAT3 signaling pathways.
Title: Formononetin inhibits colon carcinoma cell growth and invasion by microRNA‑149‑mediated EphB3 downregulation and inhibition of PI3K/AKT and STAT3 signaling pathways.

Submit: New GeneRIF Correction See all GeneRIFs (25)

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

SHGC-149120 (e-PCR)
- UniSTS:173108

RH70256 (e-PCR)
- UniSTS:9039

G15957 (e-PCR)
- UniSTS:16990

D3S3583 (e-PCR), detects polymorphism
- UniSTS:71112

EPHB3_445 (e-PCR)
- UniSTS:277213

D3S4004 (e-PCR)
- UniSTS:24049

SHGC-148412 (e-PCR)
- UniSTS:176380

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables axon guidance receptor activity	IEA Inferred from Electronic Annotation more info
enables ephrin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane-ephrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in axon guidance	IBA Inferred from Biological aspect of Ancestor more info
involved_in axon guidance	ISS Inferred from Sequence or Structural Similarity more info
involved_in axonal fasciculation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in central nervous system projection neuron axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in corpus callosum development	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic spine development	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic spine morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in digestive tract morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
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 positive regulation of synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of axonogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in retinal ganglion cell axon guidance	IEA Inferred from Electronic Annotation more info
involved_in roof of mouth development	ISS Inferred from Sequence or Structural Similarity more info
involved_in substrate adhesion-dependent cell spreading	IDA Inferred from Direct Assay more info	PubMed
involved_in thymus development	ISS Inferred from Sequence or Structural Similarity more info
involved_in urogenital system development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in dendrite	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement 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

General protein information

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Preferred Names: ephrin type-B receptor 3

Names: EPH-like tyrosine kinase 2; embryonic kinase 2; human embryo kinase 2; tyrosine-protein kinase TYRO6

NP_004434.2

EC 2.7.10.1

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_004443.4 → NP_004434.2 ephrin type-B receptor 3 precursor

See identical proteins and their annotated locations for NP_004434.2

Status: REVIEWED

Source sequence(s)

AC112643, BC052968, CB993133, X75208

Consensus CDS

CCDS3268.1

UniProtKB/Swiss-Prot

P54753, Q7Z740

Related

ENSP00000332118.2, ENST00000330394.3

Conserved Domains (7) summary

cd05065
Location:628 → 896

PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors

cd10478
Location:39 → 211

EphR_LBD_B3; Ligand Binding Domain of Ephrin type-B Receptor 3

cd00063
Location:473 → 542

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam07699
Location:284 → 316

Ephrin_rec_like; Putative ephrin-receptor like

pfam00041
Location:341 → 436

fn3; Fibronectin type III domain

pfam14575
Location:581 → 628

EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

cl15755
Location:922 → 990

SAM_superfamily; SAM (Sterile alpha motif )