Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2048
Gene name Gene Name - the full gene name approved by the HGNC.
EPH receptor B2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EPHB2
Synonyms (NCBI Gene) Gene synonyms aliases
BDPLT22, CAPB, DRT, EK5, EPHT3, ERK, Hek5, PCBC, Tyro5
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT049727 hsa-miR-92a-3p CLASH 23622248
MIRT438732 hsa-miR-185-5p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 24803159
MIRT438732 hsa-miR-185-5p ELISA, Flow, Luciferase reporter assay, qRT-PCR, Western blot 24803159
MIRT438670 hsa-miR-128-3p Luciferase reporter assay, qRT-PCR, Western blot 23835497
MIRT438670 hsa-miR-128-3p Luciferase reporter assay, qRT-PCR, Western blot 23835497
Transcription factors
Transcription factor Regulation Reference
BTF3 Activation 17312387
REL Repression 19621336
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600997 3393 ENSG00000133216
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bleeding Disorder Bleeding disorder, platelet-type, 22 rs761749948 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anterior segment dysgenesis Irido-corneo-trabecular dysgenesis N/A N/A ClinVar
Diabetes Severe insulin-resistant type 2 diabetes N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease 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