Gene Gene information from NCBI Gene database.
Entrez ID 2048
Gene name EPH receptor B2
Gene symbol EPHB2
Synonyms (NCBI Gene)
BDPLT22CAPBDRTEK5EPHT3ERKHek5PCBCTyro5
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. The
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs28936395 G>A,T Pathogenic, likely-benign Coding sequence variant, missense variant
rs76826147 A>G,T Risk-factor 3 prime UTR variant, missense variant, coding sequence variant, stop gained
rs121912582 C>T Pathogenic Stop gained, coding sequence variant
rs138551214 G>A Likely-pathogenic Missense variant, coding sequence variant
rs761749948 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
264
miRTarBase ID miRNA Experiments Reference
MIRT049727 hsa-miR-92a-3p CLASH 23622248
MIRT438732 hsa-miR-185-5p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 24803159
MIRT438732 hsa-miR-185-5p ELISAFlowLuciferase reporter assayqRT-PCRWestern blot 24803159
MIRT438670 hsa-miR-128-3p Luciferase reporter assayqRT-PCRWestern blot 23835497
MIRT438670 hsa-miR-128-3p Luciferase reporter assayqRT-PCRWestern blot 23835497
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
BTF3 Activation 17312387
REL Repression 19621336
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
139
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001525 Process Angiogenesis IEA
GO:0001525 Process Angiogenesis ISS
GO:0001540 Function Amyloid-beta binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600997 3393 ENSG00000133216
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29323
Protein name Ephrin type-B receptor 2 (EC 2.7.10.1) (Developmentally-regulated Eph-related tyrosine kinase) (ELK-related tyrosine kinase) (EPH tyrosine kinase 3) (EPH-like kinase 5) (EK5) (hEK5) (Renal carcinoma antigen NY-REN-47) (Tyrosine-protein kinase TYRO5) (Tyro
Protein 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
PDB 1B4F , 1F0M , 2QBX , 3ZFM , 8EBL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01404 Ephrin_lbd 21 197 Ephrin receptor ligand binding domain Domain
PF07699 Ephrin_rec_like 261 304 Putative ephrin-receptor like Family
PF00041 fn3 326 421 Fibronectin type III domain Domain
PF00041 fn3 434 520 Fibronectin type III domain Domain
PF14575 EphA2_TM 544 618 Ephrin type-A receptor 2 transmembrane domain Domain
PF07714 PK_Tyr_Ser-Thr 621 880 Protein tyrosine and serine/threonine kinase Domain
PF00536 SAM_1 911 975 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Brain, heart, lung, kidney, placenta, pancreas, liver and skeletal muscle. Preferentially expressed in fetal brain.
Sequence
MALRRLGAALLLLPLLAAVEETLMDSTTATAELGWMVHPPSGWEEVSGYDENMNTIRTYQ
VCNVFESSQNNWLRTKFIRRRGAHRIHVEMKFSVRDCSSIPSVPGSCKETFNLYYYEADF
DSATKTFPNWMENPWVKVDTIAADESFSQVDLGGRVMKINTEVRSFGPVSRSGFYLAFQD
YGGCMSLIAVRVFYRKC
PRIIQNGAIFQETLSGAESTSLVAARGSCIANAEEVDVPIKLY
CNGDGEWLVPIGRCMCKAGFEAVENGTVCRGCPSGTFKANQGDEACTHCPINSRTTSEGA
TNCV
CRNGYYRADLDPLDMPCTTIPSAPQAVISSVNETSLMLEWTPPRDSGGREDLVYNI
ICKSCGSGRGACTRCGDNVQYAPRQLGLTEPRIYISDLLAHTQYTFEIQAVNGVTDQSPF
S
PQFASVNITTNQAAPSAVSIMHQVSRTVDSITLSWSQPDQPNGVILDYELQYYEKELSE
YNATAIKSPTNTVTVQGLKAGAIYVFQVRARTVAGYGRYS
GKMYFQTMTEAEYQTSIQEK
LPLIIGSSAAGLVFLIAVVVIAIVCNRRGFERADSEYTDKLQHYTSGHMTPGMKIYIDPF
TYEDPNEAVREFAKEIDI
SCVKIEQVIGAGEFGEVCSGHLKLPGKREIFVAIKTLKSGYT
EKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSTPVMIITEFMENGSLDSFLRQNDGQFTV
IQLVGMLRGIAAGMKYLADMNYVHRDLAARNILVNSNLVCKVSDFGLSRFLEDDTSDPTY
TSALGGKIPIRWTAPEAIQYRKFTSASDVWSYGIVMWEVMSYGERPYWDMTNQDVINAIE
QDYRLPPPMDCPSALHQLMLDCWQKDRNHRPKFGQIVNTL
DKMIRNPNSLKAMAPLSSGI
NLPLLDRTIPDYTSFNTVDEWLEAIKMGQYKESFANAGFTSFDVVSQMMMEDILRVGVTL
AGHQKKILNSIQVMR
AQMNQIQSVEGQPLARRPRATGRTKRCQPRDVTKKTCNSNDGKKK
GMGKKKTDPGRGREIQGIFFKEDSHKESNDCSCGG
Sequence length 1055
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Axon guidance   EPH-Ephrin signaling
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Prostate cancer/brain cancer susceptibility Pathogenic rs121912582 RCV000009058
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Bleeding disorder, platelet-type, 22 Uncertain significance; no classifications from unflagged records rs2522137935, rs761749948 RCV003991712
RCV000782357
EPHB2-related disorder Benign; Likely benign rs2229872, rs28936395, rs141476431, rs377584109, rs761622826, rs142696573, rs371651342, rs764204919, rs753914148, rs149351655, rs373295870, rs774519713, rs201751121, rs61732489, rs1371869
View all (3 more)
RCV003983961
RCV003934813
RCV003921635
RCV003924066
RCV003981555
RCV003903909
RCV003912312
RCV003967288
RCV003899333
RCV003963869
RCV003949339
RCV003934428
RCV003959152
RCV003903194
RCV004757322
RCV003940834
RCV004757333
RCV004757327
Irido-corneo-trabecular dysgenesis Likely benign rs150803261 RCV000207356
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 12136247
Adenocarcinoma of Lung Associate 28231727, 32736413, 34419075, 36032135, 39198775
Adenoma Stimulate 21393996
Arthritis Associate 32483203
Arthritis Rheumatoid Associate 32483203
Atherosclerosis Associate 32337793
Blood Platelet Disorders Associate 30213874
Breast Neoplasms Associate 15029258, 16039586, 21278786, 25728938, 26870995
Carcinogenesis Associate 25996368
Carcinoma Hepatocellular Associate 26222696, 30026540, 33210432