Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2050
Gene name	EPH receptor B4
Gene symbol	EPHB4
Synonyms (NCBI Gene)	CMAVM2HFASDHTKLMPHM7MYK1TYRO11
Chromosome	7
Chromosome location	7q22.1
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs377702127	G>A,C	Likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs764827256	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs769965440	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs776410552	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs927772349	C>A,T	Pathogenic	Splice donor variant
rs994651018	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1057515420	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519263	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519264	A>C	Pathogenic	Missense variant, coding sequence variant
rs1484547615	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1562967463	C>G	Pathogenic	Splice donor variant
rs1562969219	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1562973541	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562973614	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1584651110	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584652949	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653005	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653054	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1584653620	->A	Pathogenic	Splice donor variant
rs1584653660	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1584654433	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1584658113	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1584666961	C>T	Pathogenic	Stop gained, coding sequence variant

265

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT006338	hsa-miR-20b-5p	Luciferase reporter assay	22438230
MIRT017978	hsa-miR-335-5p	Microarray	18185580
MIRT038783	hsa-miR-93-3p	CLASH	23622248
MIRT052757	hsa-miR-1260b	CLASH	23622248
MIRT715569	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT715568	hsa-miR-4421	HITS-CLIP	19536157
MIRT715567	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715566	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715565	hsa-miR-5695	HITS-CLIP	19536157
MIRT715564	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715563	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715562	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715561	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715560	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT715559	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT499371	hsa-miR-3662	PAR-CLIP	24398324
MIRT499370	hsa-miR-580-5p	PAR-CLIP	24398324
MIRT499369	hsa-miR-624-3p	PAR-CLIP	24398324
MIRT499368	hsa-miR-5584-5p	PAR-CLIP	24398324
MIRT499367	hsa-miR-2277-3p	PAR-CLIP	24398324
MIRT499366	hsa-miR-3148	PAR-CLIP	24398324
MIRT499365	hsa-miR-4668-5p	PAR-CLIP	24398324
MIRT499364	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT499363	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT499362	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT715569	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT715568	hsa-miR-4421	HITS-CLIP	19536157
MIRT715567	hsa-miR-5699-3p	HITS-CLIP	19536157
MIRT715566	hsa-miR-519d-5p	HITS-CLIP	19536157
MIRT715565	hsa-miR-5695	HITS-CLIP	19536157
MIRT715564	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT715563	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT715562	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT715561	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715560	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT715559	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT499371	hsa-miR-3662	PAR-CLIP	24398324
MIRT499370	hsa-miR-580-5p	PAR-CLIP	24398324
MIRT499369	hsa-miR-624-3p	PAR-CLIP	24398324
MIRT499368	hsa-miR-5584-5p	PAR-CLIP	24398324
MIRT499367	hsa-miR-2277-3p	PAR-CLIP	24398324
MIRT499366	hsa-miR-3148	PAR-CLIP	24398324
MIRT499365	hsa-miR-4668-5p	PAR-CLIP	24398324
MIRT499364	hsa-miR-323a-5p	PAR-CLIP	24398324
MIRT499363	hsa-miR-876-3p	PAR-CLIP	24398324
MIRT499362	hsa-miR-542-3p	PAR-CLIP	24398324
MIRT966719	hsa-miR-106a	CLIP-seq
MIRT966720	hsa-miR-106b	CLIP-seq
MIRT966721	hsa-miR-1197	CLIP-seq
MIRT966722	hsa-miR-124	CLIP-seq
MIRT966723	hsa-miR-1248	CLIP-seq
MIRT966724	hsa-miR-1275	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT966726	hsa-miR-130a	CLIP-seq
MIRT966727	hsa-miR-130b	CLIP-seq
MIRT966728	hsa-miR-15a	CLIP-seq
MIRT966729	hsa-miR-15b	CLIP-seq
MIRT966730	hsa-miR-16	CLIP-seq
MIRT966731	hsa-miR-17	CLIP-seq
MIRT966732	hsa-miR-1908	CLIP-seq
MIRT966733	hsa-miR-1913	CLIP-seq
MIRT966734	hsa-miR-1915	CLIP-seq
MIRT966735	hsa-miR-195	CLIP-seq
MIRT966736	hsa-miR-20a	CLIP-seq
MIRT966737	hsa-miR-20b	CLIP-seq
MIRT966738	hsa-miR-299-3p	CLIP-seq
MIRT966739	hsa-miR-301a	CLIP-seq
MIRT966740	hsa-miR-301b	CLIP-seq
MIRT966741	hsa-miR-3122	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT966743	hsa-miR-3150a-3p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966745	hsa-miR-3175	CLIP-seq
MIRT966746	hsa-miR-3199	CLIP-seq
MIRT966747	hsa-miR-323-5p	CLIP-seq
MIRT966748	hsa-miR-324-3p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966750	hsa-miR-342-5p	CLIP-seq
MIRT966751	hsa-miR-3606	CLIP-seq
MIRT966752	hsa-miR-3657	CLIP-seq
MIRT966753	hsa-miR-3666	CLIP-seq
MIRT966754	hsa-miR-3913-5p	CLIP-seq
MIRT966755	hsa-miR-3937	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966757	hsa-miR-3973	CLIP-seq
MIRT966758	hsa-miR-424	CLIP-seq
MIRT966759	hsa-miR-4254	CLIP-seq
MIRT966760	hsa-miR-4259	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966763	hsa-miR-4295	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966765	hsa-miR-4308	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966767	hsa-miR-4425	CLIP-seq
MIRT966768	hsa-miR-4437	CLIP-seq
MIRT966769	hsa-miR-4453	CLIP-seq
MIRT966770	hsa-miR-4487	CLIP-seq
MIRT966771	hsa-miR-4488	CLIP-seq
MIRT966772	hsa-miR-4538	CLIP-seq
MIRT966773	hsa-miR-454	CLIP-seq
MIRT966774	hsa-miR-4633-3p	CLIP-seq
MIRT966775	hsa-miR-4648	CLIP-seq
MIRT966776	hsa-miR-4651	CLIP-seq
MIRT966777	hsa-miR-4654	CLIP-seq
MIRT966778	hsa-miR-4664-5p	CLIP-seq
MIRT966779	hsa-miR-4665-5p	CLIP-seq
MIRT966780	hsa-miR-4677-3p	CLIP-seq
MIRT966781	hsa-miR-4679	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966783	hsa-miR-4697-5p	CLIP-seq
MIRT966784	hsa-miR-4726-3p	CLIP-seq
MIRT966785	hsa-miR-4738-5p	CLIP-seq
MIRT966786	hsa-miR-4757-5p	CLIP-seq
MIRT966787	hsa-miR-4764-5p	CLIP-seq
MIRT966788	hsa-miR-4769-5p	CLIP-seq
MIRT966789	hsa-miR-497	CLIP-seq
MIRT966790	hsa-miR-506	CLIP-seq
MIRT966791	hsa-miR-519a	CLIP-seq
MIRT966792	hsa-miR-519b-3p	CLIP-seq
MIRT966793	hsa-miR-519c-3p	CLIP-seq
MIRT966794	hsa-miR-519d	CLIP-seq
MIRT966795	hsa-miR-520g	CLIP-seq
MIRT966796	hsa-miR-520h	CLIP-seq
MIRT966797	hsa-miR-542-5p	CLIP-seq
MIRT966798	hsa-miR-608	CLIP-seq
MIRT966799	hsa-miR-615-5p	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966801	hsa-miR-663	CLIP-seq
MIRT966802	hsa-miR-93	CLIP-seq
MIRT966803	hsa-miR-939	CLIP-seq
MIRT966719	hsa-miR-106a	CLIP-seq
MIRT966720	hsa-miR-106b	CLIP-seq
MIRT966721	hsa-miR-1197	CLIP-seq
MIRT1986311	hsa-miR-1207-3p	CLIP-seq
MIRT1986312	hsa-miR-1208	CLIP-seq
MIRT966722	hsa-miR-124	CLIP-seq
MIRT966723	hsa-miR-1248	CLIP-seq
MIRT966724	hsa-miR-1275	CLIP-seq
MIRT1986313	hsa-miR-1292	CLIP-seq
MIRT1986314	hsa-miR-1299	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT1986315	hsa-miR-1305	CLIP-seq
MIRT966726	hsa-miR-130a	CLIP-seq
MIRT966727	hsa-miR-130b	CLIP-seq
MIRT966731	hsa-miR-17	CLIP-seq
MIRT966732	hsa-miR-1908	CLIP-seq
MIRT966734	hsa-miR-1915	CLIP-seq
MIRT1986316	hsa-miR-205	CLIP-seq
MIRT966736	hsa-miR-20a	CLIP-seq
MIRT966737	hsa-miR-20b	CLIP-seq
MIRT1986317	hsa-miR-296-5p	CLIP-seq
MIRT966738	hsa-miR-299-3p	CLIP-seq
MIRT966739	hsa-miR-301a	CLIP-seq
MIRT966740	hsa-miR-301b	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT1986318	hsa-miR-3147	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT1986319	hsa-miR-3184	CLIP-seq
MIRT966747	hsa-miR-323-5p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966751	hsa-miR-3606	CLIP-seq
MIRT1986320	hsa-miR-3652	CLIP-seq
MIRT966753	hsa-miR-3666	CLIP-seq
MIRT1986321	hsa-miR-3679-3p	CLIP-seq
MIRT1986322	hsa-miR-376a	CLIP-seq
MIRT1986323	hsa-miR-376b	CLIP-seq
MIRT966755	hsa-miR-3937	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966757	hsa-miR-3973	CLIP-seq
MIRT1986324	hsa-miR-423-5p	CLIP-seq
MIRT1986325	hsa-miR-425	CLIP-seq
MIRT1986326	hsa-miR-4261	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966763	hsa-miR-4295	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966767	hsa-miR-4425	CLIP-seq
MIRT1986327	hsa-miR-4430	CLIP-seq
MIRT966768	hsa-miR-4437	CLIP-seq
MIRT1986328	hsa-miR-4446-3p	CLIP-seq
MIRT1986329	hsa-miR-4446-5p	CLIP-seq
MIRT966769	hsa-miR-4453	CLIP-seq
MIRT966770	hsa-miR-4487	CLIP-seq
MIRT966771	hsa-miR-4488	CLIP-seq
MIRT1986330	hsa-miR-4492	CLIP-seq
MIRT1986331	hsa-miR-4498	CLIP-seq
MIRT1986332	hsa-miR-4505	CLIP-seq
MIRT1986333	hsa-miR-4525	CLIP-seq
MIRT1986334	hsa-miR-4527	CLIP-seq
MIRT966772	hsa-miR-4538	CLIP-seq
MIRT966773	hsa-miR-454	CLIP-seq
MIRT966774	hsa-miR-4633-3p	CLIP-seq
MIRT1986335	hsa-miR-4639-3p	CLIP-seq
MIRT966775	hsa-miR-4648	CLIP-seq
MIRT1986336	hsa-miR-4653-3p	CLIP-seq
MIRT966777	hsa-miR-4654	CLIP-seq
MIRT966779	hsa-miR-4665-5p	CLIP-seq
MIRT1986337	hsa-miR-4688	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966783	hsa-miR-4697-5p	CLIP-seq
MIRT1986338	hsa-miR-4723-5p	CLIP-seq
MIRT966784	hsa-miR-4726-3p	CLIP-seq
MIRT1986339	hsa-miR-4728-5p	CLIP-seq
MIRT1986340	hsa-miR-4731-5p	CLIP-seq
MIRT966785	hsa-miR-4738-5p	CLIP-seq
MIRT966787	hsa-miR-4764-5p	CLIP-seq
MIRT966788	hsa-miR-4769-5p	CLIP-seq
MIRT1986341	hsa-miR-4777-3p	CLIP-seq
MIRT1986342	hsa-miR-4781-3p	CLIP-seq
MIRT1986343	hsa-miR-4781-5p	CLIP-seq
MIRT1986344	hsa-miR-4782-5p	CLIP-seq
MIRT966790	hsa-miR-506	CLIP-seq
MIRT1986345	hsa-miR-5096	CLIP-seq
MIRT1986346	hsa-miR-516b	CLIP-seq
MIRT966791	hsa-miR-519a	CLIP-seq
MIRT966792	hsa-miR-519b-3p	CLIP-seq
MIRT966793	hsa-miR-519c-3p	CLIP-seq
MIRT966794	hsa-miR-519d	CLIP-seq
MIRT966795	hsa-miR-520g	CLIP-seq
MIRT966796	hsa-miR-520h	CLIP-seq
MIRT966797	hsa-miR-542-5p	CLIP-seq
MIRT966799	hsa-miR-615-5p	CLIP-seq
MIRT1986347	hsa-miR-625	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT1986348	hsa-miR-637	CLIP-seq
MIRT1986349	hsa-miR-646	CLIP-seq
MIRT966801	hsa-miR-663	CLIP-seq
MIRT1986350	hsa-miR-744	CLIP-seq
MIRT1986351	hsa-miR-762	CLIP-seq
MIRT1986352	hsa-miR-875-3p	CLIP-seq
MIRT966802	hsa-miR-93	CLIP-seq
MIRT966725	hsa-miR-1302	CLIP-seq
MIRT1986315	hsa-miR-1305	CLIP-seq
MIRT1986317	hsa-miR-296-5p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966749	hsa-miR-331-3p	CLIP-seq
MIRT966756	hsa-miR-3943	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966762	hsa-miR-4292	CLIP-seq
MIRT966764	hsa-miR-4298	CLIP-seq
MIRT966766	hsa-miR-4313	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT1986346	hsa-miR-516b	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966742	hsa-miR-3127-3p	CLIP-seq
MIRT966743	hsa-miR-3150a-3p	CLIP-seq
MIRT966744	hsa-miR-3173-3p	CLIP-seq
MIRT966745	hsa-miR-3175	CLIP-seq
MIRT966752	hsa-miR-3657	CLIP-seq
MIRT966761	hsa-miR-4286	CLIP-seq
MIRT966782	hsa-miR-4695-5p	CLIP-seq
MIRT966800	hsa-miR-635	CLIP-seq
MIRT966803	hsa-miR-939	CLIP-seq
MIRT1986313	hsa-miR-1292	CLIP-seq
MIRT2442139	hsa-miR-133a	CLIP-seq
MIRT2442140	hsa-miR-133b	CLIP-seq
MIRT1986334	hsa-miR-4527	CLIP-seq
MIRT1986335	hsa-miR-4639-3p	CLIP-seq
MIRT2442141	hsa-miR-4734	CLIP-seq
MIRT2442142	hsa-miR-4753-3p	CLIP-seq
MIRT2442143	hsa-miR-9	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0001525	Process	Angiogenesis	IDA	12734395
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	28687708, 30578106
GO:0002042	Process	Cell migration involved in sprouting angiogenesis	IDA	12734395
GO:0003007	Process	Heart morphogenesis	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005003	Function	Ephrin receptor activity	IDA	8188704, 12734395, 15930280, 16867992, 22555806
GO:0005003	Function	Ephrin receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	26481148, 28514442, 30578106, 33961781, 35384245
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	8188704, 12734395
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IDA	12734395
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IBA
GO:0048013	Process	Ephrin receptor signaling pathway	IDA	12734395
GO:0048013	Process	Ephrin receptor signaling pathway	IMP	22555806
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
600011	3395	ENSG00000196411

P54760

Protein name

Ephrin type-B receptor 4 (EC 2.7.10.1) (Hepatoma transmembrane kinase) (Tyrosine-protein kinase TYRO11)

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

2BBA , 2E7H , 2HLE , 2QKQ , 2VWU , 2VWV , 2VWW , 2VWX , 2VWY , 2VWZ , 2VX0 , 2VX1 , 2X9F , 2XVD , 2YN8 , 3ZEW , 4AW5 , 4BB4 , 6FNI , 6FNJ , 6FNK , 6FNL , 6FNM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01404	Ephrin_lbd	18 → 197	Ephrin receptor ligand binding domain	Domain
PF07699	Ephrin_rec_like	258 → 304	Putative ephrin-receptor like	Family
PF00041	fn3	325 → 417	Fibronectin type III domain	Domain
PF00041	fn3	435 → 519	Fibronectin type III domain	Domain
PF14575	EphA2_TM	541 → 612	Ephrin type-A receptor 2 transmembrane domain	Domain
PF07714	PK_Tyr_Ser-Thr	615 → 874	Protein tyrosine and serine/threonine kinase	Domain
PF00536	SAM_1	905 → 969	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in placenta but also detected in kidney, liver, lung, pancreas, skeletal muscle and heart. Expressed in primitive and myeloid, but not lymphoid, hematopoietic cells. Also observed in cell lines derived from liver,

Sequence

MELRVLLCWASLAAALEETLLNTKLETADLKWVTFPQVDGQWEELSGLDEEQHSVRTYEV
CDVQRAPGQAHWLRTGWVPRRGAVHVYATLRFTMLECLSLPRAGRSCKETFTVFYYESDA
DTATALTPAWMENPYIKVDTVAAEHLTRKRPGAEATGKVNVKTLRLGPLSKAGFYLAFQD
QGACMALLSLHLFYKKCAQLTVNLTRFPETVPRELVVPVAGSCVVDAVPAPGPSPSLYCR
EDGQWAEQPVTGCSCAPGFEAAEGNTKCRACAQGTFKPLSGEGSCQPCPANSHSNTIGSA
VCQCRVGYFRARTDPRGAPCTTPPSAPRSVVSRLNGSSLHLEWSAPLESGGREDLTYALR
CRECRPGGSCAPCGGDLTFDPGPRDLVEPWVVVRGLRPDFTYTFEVTALNGVSSLATGPV
PFEPVNVTTDREVPPAVSDIRVTRSSPSSLSLAWAVPRAPSGAVLDYEVKYHEKGAEGPS
SVRFLKTSENRAELRGLKRGASYLVQVRARSEAGYGPFGQEHHSQTQLDESEGWREQLAL
IAGTAVVGVVLVLVVIVVAVLCLRKQSNGREAEYSDKHGQYLIGHGTKVYIDPFTYEDPN
EAVREFAKEIDVSYVKIEEVIGAGEFGEVCRGRLKAPGKKESCVAIKTLKGGYTERQRRE
FLSEASIMGQFEHPNIIRLEGVVTNSMPVMILTEFMENGALDSFLRLNDGQFTVIQLVGM
LRGIASGMRYLAEMSYVHRDLAARNILVNSNLVCKVSDFGLSRFLEENSSDPTYTSSLGG
KIPIRWTAPEAIAFRKFTSASDAWSYGIVMWEVMSFGERPYWDMSNQDVINAIEQDYRLP
PPPDCPTSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIVARENGGASHPLLD
QRQPHYSAFGSVGEWLRAIKMGRYEESFAAAGFGSFELVSQISAEDLLRIGVTLAGHQKK
ILASVQHMKSQAKPGTPGGTGGPAPQY

Sequence length

987

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		EPH-Ephrin signaling EPHB-mediated forward signaling Ephrin signaling EPH-ephrin mediated repulsion of cells

674

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arteriovenous malformation	Pathogenic	rs2116413948	RCV001526877
Capillary malformation-arteriovenous malformation 2	Pathogenic; Likely pathogenic	rs2116413904, rs2116450530, rs2116434296, rs2116432544, rs2116431583, rs767827881, rs1331371272, rs1279971868, rs761905713, rs1813296662, rs2116443777, rs2116416678, rs773967187, rs749503755, rs2485037560 View all (19 more)	RCV001788524 RCV003155430 RCV006249768 RCV001823796 RCV001839304 RCV004796684 RCV002225188 RCV002225192 RCV002225213 RCV002225224 RCV002254419 RCV002272690 RCV002282773 RCV002470387 RCV002470540 RCV002470548 RCV003229500 RCV003328135 RCV004557271 RCV004560414 RCV004595404 RCV000722057 RCV000722058 RCV000722060 RCV000722061 RCV000722062 RCV000722063 RCV000722064 RCV000722065 RCV000852305 RCV000852308 RCV000852315 RCV000852312 RCV000852306 RCV001261444
Capillary malformation-arteriovenous malformation syndrome	Pathogenic	rs779782731, rs2116462820, rs2485000657	RCV005601847 RCV002254420 RCV004018265
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs1331371272, rs746199977, rs2485035566, rs2485000821	RCV002443272 RCV002353699 RCV002364886 RCV002459621
EPHB4-associated vascular malformation spectrum	Likely pathogenic	rs2485000498	RCV003994765
EPHB4-related disorder	Likely pathogenic; Pathogenic	rs2116435260, rs2116461878, rs1812821716, rs764404042, rs780186346, rs112410846, rs1302206828, rs1562967226, rs2485044907, rs2485028062, rs1562969219	RCV003399210 RCV004731193 RCV004548304 RCV004548605 RCV003402523 RCV003404209 RCV003422451 RCV003402383 RCV003419059 RCV003983598 RCV004547917
Hereditary lymphedema type I	Pathogenic; Likely pathogenic	rs2116431707, rs762817852	RCV002274298 RCV002274179
Lymphatic malformation 7	Likely pathogenic; Pathogenic	rs2116434296, rs767827881, rs1279971868, rs758961867, rs1812821716, rs1057519263, rs1057519264, rs1562967463, rs1584651110	RCV005051918 RCV004796684 RCV004796712 RCV004782909 RCV002470209 RCV000415595 RCV000415536 RCV000735638 RCV000853289

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2437101	RCV005919495
Cervical cancer	Benign; Likely benign	rs2437101, rs55682161	RCV005919496 RCV005925997
Cholangiocarcinoma	Benign	rs2437101	RCV005919499
Familial cancer of breast	Benign; Likely benign	rs55682161	RCV005925995
Lung cancer	Likely benign	rs200174184	RCV005932075
Lymphedema	Uncertain significance	rs2485038073	RCV005626661
Malignant neoplastic disease	Uncertain significance	rs1479899915	RCV001254877
Malignant tumor of urinary bladder	Benign; Likely benign	rs55682161	RCV005925996
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs55682161	RCV005925998
Sarcoma	Benign	rs2437101	RCV005919497
See cases	Uncertain significance	rs1813303324, rs2485016533, rs1812789265	RCV002253084 RCV004584556 RCV003128478
Tetralogy of Fallot	Uncertain significance	rs1057515420	RCV000408650
Thymoma	Benign	rs2437101	RCV005919498
Uterine corpus endometrial carcinoma	Benign	rs2437101	RCV005919500
Vein of Galen aneurysmal malformation	association; Uncertain significance	rs2116449991, rs146937374	RCV001849631 RCV001849632
Venous malformation	Conflicting classifications of pathogenicity	rs775083333	RCV001374593

Show/Hide Text Mining Associations (67)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	29769567
Adenocarcinoma of Lung	Associate	32733636
Adenoma	Stimulate	21393996
Aneuploidy	Associate	15029258
Arteriovenous Malformations	Associate	28687708
Bone Diseases	Associate	19664212
Brain Diseases	Associate	28214829
Breast Neoplasms	Associate	12031094, 15029258, 23063927, 23295955, 24427781, 25831049, 26191333, 27072235, 32635943
Capillary Malformation Arteriovenous Malformation	Associate	28687708, 30760892, 32286515, 32635943, 33864021
Carcinogenesis	Stimulate	23138393
Carcinogenesis	Associate	24656654
Carcinoma Non Small Cell Lung	Associate	27827952, 34445227
Carcinoma Papillary	Associate	26220827
Carcinoma Renal Cell	Associate	25391996
Central Nervous System Vascular Malformations	Associate	32635943
Cholangiocarcinoma	Associate	25012246
Chromosomal Instability	Associate	20031623
Colonic Neoplasms	Associate	11920461, 27273865
Colorectal Neoplasms	Associate	27273865
Crohn Disease	Associate	31211845
Drug Related Side Effects and Adverse Reactions	Associate	27273865
Endometrial Hyperplasia	Associate	12562648
Endometrial Neoplasms	Associate	12562648, 17108150
Esophageal Neoplasms	Associate	36632458
Esophageal Squamous Cell Carcinoma	Associate	24771266, 36632458
Gastritis	Associate	24656654
Glioma	Associate	23138393, 27385209
HAIR AN syndrome	Stimulate	32974878
Head and Neck Neoplasms	Associate	25391996
Heart Neoplasms	Associate	28739744
Hematologic Diseases	Associate	32336043
Hydrops Fetalis	Associate	33864021
Intracranial Arteriovenous Malformations	Associate	20031623, 24517927, 28687708, 32286515
Intracranial Hemorrhages	Associate	20031623, 29932521
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	35689424
Leukemia Myeloid Acute	Associate	24764074
Leukoencephalopathies	Associate	35325079
Lung Neoplasms	Associate	26073592
Lymphedema	Associate	33864021
Medulloblastoma	Associate	22723427, 25258252
Mesothelioma	Associate	37108544
Mesothelioma Malignant	Associate	37108544
Neoplasm Invasiveness	Associate	34296545
Neoplasm Metastasis	Associate	32336043
Neoplasms	Associate	12031094, 12562648, 17108150, 18231102, 18507018, 19552627, 24147882, 24427781, 24517927, 24677421, 25391996, 25831049, 26073592, 27072235, 27273865 View all (10 more)
Neoplasms	Inhibit	21393996
Neoplasms	Stimulate	26191333, 27827952
Nerve Degeneration	Associate	28214829
Neuroblastoma	Associate	32336043
Ovarian Neoplasms	Associate	18231102
Pancreatic Neoplasms	Associate	25051915
Pascual Castroviejo syndrome	Associate	30578106
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	20061560
Prostatic Intraepithelial Neoplasia	Associate	25886373
Prostatic Neoplasms	Associate	16171530, 25886373
Retinal Dysplasia	Associate	25391996
Rhabdomyosarcoma	Associate	18507018
Sarcoma	Associate	22461510
Sarcoma Kaposi	Associate	15471957
Schizophrenia	Associate	31211845
Squamous Cell Carcinoma of Head and Neck	Associate	25391996
Stomach Neoplasms	Associate	28739744
Thyroid Diseases	Associate	26220827
Thyroiditis	Associate	26220827
Urinary Bladder Neoplasms	Associate	34296545
Vein of Galen Malformations	Associate	30578106
Vitreoretinopathy Proliferative	Associate	19696168

EPHB4 (EPH receptor B4)