EPHB2 (EPH receptor B2)

Gene

• Entrez ID: 2048
• Gene name: EPH receptor B2
• Gene symbol: EPHB2
• Synonyms (NCBI Gene): BDPLT22, CAPB, DRT, EK5, EPHT3, ERK, Hek5, PCBC, Tyro5
• Disease Acronyms (UniProt): BDPLT22
• 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 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

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
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
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT477315	hsa-miR-4779	PAR-CLIP	23592263
MIRT477314	hsa-miR-9500	PAR-CLIP	23592263
MIRT477313	hsa-miR-3665	PAR-CLIP	23592263
MIRT477312	hsa-miR-6077	PAR-CLIP	23592263
MIRT477311	hsa-miR-765	PAR-CLIP	23592263
MIRT477310	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT477309	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT477307	hsa-miR-4736	PAR-CLIP	23592263
MIRT477308	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT477306	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT477305	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT477304	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT477303	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT477302	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT477300	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT477301	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT477299	hsa-miR-7150	PAR-CLIP	23592263
MIRT477298	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT477297	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT477296	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT477295	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT477294	hsa-miR-3689c	PAR-CLIP	23592263
MIRT477293	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT477292	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT440719	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440719	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT658579	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT658578	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT658577	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT658575	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT658576	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT658574	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658573	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT477315	hsa-miR-4779	PAR-CLIP	23592263
MIRT477314	hsa-miR-9500	PAR-CLIP	23592263
MIRT477313	hsa-miR-3665	PAR-CLIP	23592263
MIRT477312	hsa-miR-6077	PAR-CLIP	23592263
MIRT477311	hsa-miR-765	PAR-CLIP	23592263
MIRT477310	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT477309	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT477307	hsa-miR-4736	PAR-CLIP	23592263
MIRT477308	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT477306	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT477305	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT477304	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT477303	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT477302	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT477300	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT477301	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT477299	hsa-miR-7150	PAR-CLIP	23592263
MIRT477298	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT477297	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT477296	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT477295	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT477294	hsa-miR-3689c	PAR-CLIP	23592263
MIRT477293	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT477292	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT966678	hsa-miR-1207-5p	CLIP-seq
MIRT966679	hsa-miR-1248	CLIP-seq
MIRT966680	hsa-miR-1343	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT966682	hsa-miR-185	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT966684	hsa-miR-3173-3p	CLIP-seq
MIRT966685	hsa-miR-3689d	CLIP-seq
MIRT966686	hsa-miR-3690	CLIP-seq
MIRT966687	hsa-miR-4254	CLIP-seq
MIRT966688	hsa-miR-4271	CLIP-seq
MIRT966689	hsa-miR-4306	CLIP-seq
MIRT966690	hsa-miR-4434	CLIP-seq
MIRT966691	hsa-miR-4456	CLIP-seq
MIRT966692	hsa-miR-4516	CLIP-seq
MIRT966693	hsa-miR-4531	CLIP-seq
MIRT966694	hsa-miR-4533	CLIP-seq
MIRT966695	hsa-miR-4644	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT966698	hsa-miR-4725-3p	CLIP-seq
MIRT966699	hsa-miR-4747-5p	CLIP-seq
MIRT966700	hsa-miR-4763-3p	CLIP-seq
MIRT966701	hsa-miR-4778-3p	CLIP-seq
MIRT966702	hsa-miR-539	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT1986310	hsa-miR-616	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2220905	hsa-miR-3124-3p	CLIP-seq
MIRT2220906	hsa-miR-3160-5p	CLIP-seq
MIRT2220907	hsa-miR-4317	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2220908	hsa-miR-4481	CLIP-seq
MIRT2220909	hsa-miR-4685-5p	CLIP-seq
MIRT2220910	hsa-miR-4712-3p	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2220911	hsa-miR-4745-5p	CLIP-seq
MIRT966699	hsa-miR-4747-5p	CLIP-seq
MIRT2220912	hsa-miR-580	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2524584	hsa-miR-1204	CLIP-seq
MIRT2524585	hsa-miR-1291	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT2524586	hsa-miR-1538	CLIP-seq
MIRT2524587	hsa-miR-15a	CLIP-seq
MIRT2524588	hsa-miR-15b	CLIP-seq
MIRT2524589	hsa-miR-16	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2524590	hsa-miR-195	CLIP-seq
MIRT2524591	hsa-miR-2052	CLIP-seq
MIRT2524592	hsa-miR-214	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT2524593	hsa-miR-2467-3p	CLIP-seq
MIRT2524594	hsa-miR-299-5p	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT2524595	hsa-miR-3125	CLIP-seq
MIRT2524596	hsa-miR-3151	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT2524597	hsa-miR-3173-5p	CLIP-seq
MIRT2524598	hsa-miR-3176	CLIP-seq
MIRT2524599	hsa-miR-3180	CLIP-seq
MIRT2524600	hsa-miR-3180-3p	CLIP-seq
MIRT2524601	hsa-miR-3196	CLIP-seq
MIRT2524602	hsa-miR-3200-5p	CLIP-seq
MIRT2524603	hsa-miR-328	CLIP-seq
MIRT2524604	hsa-miR-3616-3p	CLIP-seq
MIRT2524605	hsa-miR-3619-5p	CLIP-seq
MIRT2524606	hsa-miR-3652	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT2524607	hsa-miR-3664-3p	CLIP-seq
MIRT2524608	hsa-miR-3681	CLIP-seq
MIRT2524609	hsa-miR-3916	CLIP-seq
MIRT2524610	hsa-miR-3922-3p	CLIP-seq
MIRT2524611	hsa-miR-424	CLIP-seq
MIRT2524612	hsa-miR-4430	CLIP-seq
MIRT2524613	hsa-miR-4433	CLIP-seq
MIRT2524614	hsa-miR-4454	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2524615	hsa-miR-4488	CLIP-seq
MIRT2524616	hsa-miR-4505	CLIP-seq
MIRT2524617	hsa-miR-4649-3p	CLIP-seq
MIRT2524618	hsa-miR-4668-5p	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT2524619	hsa-miR-4697-5p	CLIP-seq
MIRT2524620	hsa-miR-4711-3p	CLIP-seq
MIRT2524621	hsa-miR-4721	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2524622	hsa-miR-4745-3p	CLIP-seq
MIRT2524623	hsa-miR-4757-5p	CLIP-seq
MIRT2524624	hsa-miR-4768-3p	CLIP-seq
MIRT2524625	hsa-miR-486-3p	CLIP-seq
MIRT2524626	hsa-miR-497	CLIP-seq
MIRT2524627	hsa-miR-510	CLIP-seq
MIRT2524628	hsa-miR-511	CLIP-seq
MIRT2524629	hsa-miR-548a-3p	CLIP-seq
MIRT2524630	hsa-miR-548e	CLIP-seq
MIRT2524631	hsa-miR-548f	CLIP-seq
MIRT2524632	hsa-miR-591	CLIP-seq
MIRT2524633	hsa-miR-629	CLIP-seq
MIRT2524634	hsa-miR-659	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT2524635	hsa-miR-663b	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2524636	hsa-miR-761	CLIP-seq
MIRT2524637	hsa-miR-877	CLIP-seq
MIRT2524584	hsa-miR-1204	CLIP-seq
MIRT2524585	hsa-miR-1291	CLIP-seq
MIRT966681	hsa-miR-146b-3p	CLIP-seq
MIRT2524586	hsa-miR-1538	CLIP-seq
MIRT2220904	hsa-miR-1908	CLIP-seq
MIRT2524591	hsa-miR-2052	CLIP-seq
MIRT1548382	hsa-miR-2278	CLIP-seq
MIRT2524593	hsa-miR-2467-3p	CLIP-seq
MIRT2524594	hsa-miR-299-5p	CLIP-seq
MIRT1548383	hsa-miR-29a	CLIP-seq
MIRT1548384	hsa-miR-29b	CLIP-seq
MIRT1548385	hsa-miR-29c	CLIP-seq
MIRT2524596	hsa-miR-3151	CLIP-seq
MIRT966683	hsa-miR-3157-5p	CLIP-seq
MIRT2524597	hsa-miR-3173-5p	CLIP-seq
MIRT2524598	hsa-miR-3176	CLIP-seq
MIRT2524599	hsa-miR-3180	CLIP-seq
MIRT2524600	hsa-miR-3180-3p	CLIP-seq
MIRT2524601	hsa-miR-3196	CLIP-seq
MIRT2524602	hsa-miR-3200-5p	CLIP-seq
MIRT2524603	hsa-miR-328	CLIP-seq
MIRT2524604	hsa-miR-3616-3p	CLIP-seq
MIRT2524606	hsa-miR-3652	CLIP-seq
MIRT1548386	hsa-miR-3663-3p	CLIP-seq
MIRT2524607	hsa-miR-3664-3p	CLIP-seq
MIRT2524608	hsa-miR-3681	CLIP-seq
MIRT2524610	hsa-miR-3922-3p	CLIP-seq
MIRT2524612	hsa-miR-4430	CLIP-seq
MIRT2524613	hsa-miR-4433	CLIP-seq
MIRT2524614	hsa-miR-4454	CLIP-seq
MIRT1548387	hsa-miR-4459	CLIP-seq
MIRT2524615	hsa-miR-4488	CLIP-seq
MIRT2524616	hsa-miR-4505	CLIP-seq
MIRT2680194	hsa-miR-4508	CLIP-seq
MIRT2524617	hsa-miR-4649-3p	CLIP-seq
MIRT2524618	hsa-miR-4668-5p	CLIP-seq
MIRT966696	hsa-miR-4677-3p	CLIP-seq
MIRT966697	hsa-miR-4690-3p	CLIP-seq
MIRT2524619	hsa-miR-4697-5p	CLIP-seq
MIRT2524620	hsa-miR-4711-3p	CLIP-seq
MIRT2524621	hsa-miR-4721	CLIP-seq
MIRT1548388	hsa-miR-4733-3p	CLIP-seq
MIRT2524622	hsa-miR-4745-3p	CLIP-seq
MIRT2524623	hsa-miR-4757-5p	CLIP-seq
MIRT2524624	hsa-miR-4768-3p	CLIP-seq
MIRT2524625	hsa-miR-486-3p	CLIP-seq
MIRT2524627	hsa-miR-510	CLIP-seq
MIRT2524628	hsa-miR-511	CLIP-seq
MIRT2524629	hsa-miR-548a-3p	CLIP-seq
MIRT2524630	hsa-miR-548e	CLIP-seq
MIRT2524631	hsa-miR-548f	CLIP-seq
MIRT2524632	hsa-miR-591	CLIP-seq
MIRT2524633	hsa-miR-629	CLIP-seq
MIRT2524634	hsa-miR-659	CLIP-seq
MIRT2220913	hsa-miR-663	CLIP-seq
MIRT2524635	hsa-miR-663b	CLIP-seq
MIRT1548389	hsa-miR-665	CLIP-seq
MIRT2680195	hsa-miR-744	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BTF3	Activation	17312387
REL	Repression	19621336

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	ISS
GO:0001540	Function	Amyloid-beta binding	ISS
GO:0001540	Function	Amyloid-beta binding	TAS	26871627
GO:0001655	Process	Urogenital system development	ISS
GO:0001933	Process	Negative regulation of protein phosphorylation	ISS
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0005005	Function	Transmembrane-ephrin receptor activity	IBA	21873635
GO:0005005	Function	Transmembrane-ephrin receptor activity	ISS
GO:0005005	Function	Transmembrane-ephrin receptor activity	TAS	8589679
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005515	Function	Protein binding	IPI	17255949, 28931592
GO:0005524	Function	ATP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	ISS
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007399	Process	Nervous system development	TAS	8589679
GO:0007411	Process	Axon guidance	IBA	21873635
GO:0007411	Process	Axon guidance	ISS
GO:0007413	Process	Axonal fasciculation	ISS
GO:0007611	Process	Learning or memory	ISS
GO:0007612	Process	Learning	ISS
GO:0008046	Function	Axon guidance receptor activity	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0016310	Process	Phosphorylation	ISS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	ISS
GO:0021631	Process	Optic nerve morphogenesis	IEA
GO:0021952	Process	Central nervous system projection neuron axonogenesis	IBA	21873635
GO:0022038	Process	Corpus callosum development	ISS
GO:0030193	Process	Regulation of blood coagulation	IMP	30213874
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0031915	Process	Positive regulation of synaptic plasticity	ISS
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0042472	Process	Inner ear morphogenesis	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043025	Component	Neuronal cell body	IEA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0044877	Function	Protein-containing complex binding	ISS
GO:0046580	Process	Negative regulation of Ras protein signal transduction	ISS
GO:0048013	Process	Ephrin receptor signaling pathway	ISS
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048168	Process	Regulation of neuronal synaptic plasticity	ISS
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0048593	Process	Camera-type eye morphogenesis	IEA
GO:0050771	Process	Negative regulation of axonogenesis	IEA
GO:0050878	Process	Regulation of body fluid levels	ISS
GO:0051389	Process	Inactivation of MAPKK activity	ISS
GO:0051965	Process	Positive regulation of synapse assembly	ISS
GO:0060021	Process	Roof of mouth development	ISS
GO:0060996	Process	Dendritic spine development	ISS
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	ISS
GO:0071679	Process	Commissural neuron axon guidance	ISS
GO:0097104	Process	Postsynaptic membrane assembly	IEA
GO:0098794	Component	Postsynapse	TAS	26224839
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099055	Component	Integral component of postsynaptic membrane	IEA
GO:0099056	Component	Integral component of presynaptic membrane	IEA
GO:0099557	Process	Trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission	IEA
GO:0106028	Process	Neuron projection retraction	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	ISS
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	ISS
GO:1904782	Process	Negative regulation of NMDA glutamate receptor activity	ISS
GO:1904783	Process	Positive regulation of NMDA glutamate receptor activity	ISS

Other IDs

• MIM: 600997
• HGNC: 3393
• e!Ensembl: 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
  YGGCMSLIAVRVFYRKCPRIIQNGAIFQETLSGAESTSLVAARGSCIANAEEVDVPIKLY
  CNGDGEWLVPIGRCMCKAGFEAVENGTVCRGCPSGTFKANQGDEACTHCPINSRTTSEGA
  TNCVCRNGYYRADLDPLDMPCTTIPSAPQAVISSVNETSLMLEWTPPRDSGGREDLVYNI
  ICKSCGSGRGACTRCGDNVQYAPRQLGLTEPRIYISDLLAHTQYTFEIQAVNGVTDQSPF
  SPQFASVNITTNQAAPSAVSIMHQVSRTVDSITLSWSQPDQPNGVILDYELQYYEKELSE
  YNATAIKSPTNTVTVQGLKAGAIYVFQVRARTVAGYGRYSGKMYFQTMTEAEYQTSIQEK
  LPLIIGSSAAGLVFLIAVVVIAIVCNRRGFERADSEYTDKLQHYTSGHMTPGMKIYIDPF
  TYEDPNEAVREFAKEIDISCVKIEQVIGAGEFGEVCSGHLKLPGKREIFVAIKTLKSGYT
  EKQRRDFLSEASIMGQFDHPNVIHLEGVVTKSTPVMIITEFMENGSLDSFLRQNDGQFTV
  IQLVGMLRGIAAGMKYLADMNYVHRDLAARNILVNSNLVCKVSDFGLSRFLEDDTSDPTY
  TSALGGKIPIRWTAPEAIQYRKFTSASDVWSYGIVMWEVMSYGERPYWDMTNQDVINAIE
  QDYRLPPPMDCPSALHQLMLDCWQKDRNHRPKFGQIVNTLDKMIRNPNSLKAMAPLSSGI
  NLPLLDRTIPDYTSFNTVDEWLEAIKMGQYKESFANAGFTSFDVVSQMMMEDILRVGVTL
  AGHQKKILNSIQVMRAQMNQIQSVEGQPLARRPRATGRTKRCQPRDVTKKTCNSNDGKKK
  GMGKKKTDPGRGREIQGIFFKEDSHKESNDCSCGG

• Sequence length: 1055

Pathways

KEGG:

Axon guidance

Reactome:

EPH-Ephrin signaling
EPHB-mediated forward signaling
Ephrin signaling
EPH-ephrin mediated repulsion of cells

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Colorectal neoplasms	Colorectal Neoplasms	rs28929483, rs63751108, rs28929484, rs63749831, rs63750047, rs63751207, rs63749811, rs1553350126, rs63750875, rs63750955, rs587776706, rs63750871, rs587776715, rs63751466, rs63750049, rs63750451, rs121434629, rs63751247, rs63750710, rs63751615, rs63750781, rs63750899, rs63750691, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs63750245, rs193922372, rs63750393, rs63749932, rs193922375, rs193922376, rs193922343, rs397514684, rs397515875, rs267608094, rs587779204, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs587779215, rs587779216, rs587779219, rs63749874, rs267608076, rs587779220, rs267608050, rs63750735, rs63750564, rs71539659, rs267608082, rs63751167, rs267608057, rs587779227, rs267608068, rs63750075, rs587779228, rs63751419, rs587779231, rs587779232, rs267608058, rs63751442, rs63751127, rs63750647, rs63750138, rs587779235, rs267608065, rs63751321, rs587779241, rs587779243, rs63750904, rs63751017, rs587779246, rs267608063, rs63750140, rs63750940, rs63750111, rs587779250, rs63750258, rs63750563, rs267608073, rs63751407, rs267608059, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs63749821, rs63749843, rs63750617, rs267608078, rs587779259, rs267608092, rs587779260, rs267608086, rs1553331676, rs63750356, rs587779263, rs267608098, rs587779264, rs587779267, rs63750194, rs63751327, rs587779269, rs63751328, rs587779274, rs587779279, rs267608111, rs1553332996, rs587779284, rs63749942, rs587779288, rs63751058, rs63750554, rs267608114, rs267608118, rs63750139, rs63751319, rs267608128, rs587779295, rs267608127, rs267608126, rs63750767, rs267608120, rs587779299, rs267608121, rs587779301, rs267608131, rs267608122, rs63749873, rs63751077, rs1800937, rs587779315, rs587779318, rs63750019, rs267608066, rs63749980, rs63750552, rs1553412283, rs146816935, rs587779001, rs63750677, rs63750339, rs63751609, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs587778882, rs587778883, rs63751012, rs63750715, rs63750580, rs587778888, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs587778896, rs63751015, rs267607713, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607837, rs267607836, rs63750028, rs587778930, rs63751277, rs587778933, rs267607843, rs63750192, rs63750300, rs63750193, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs63751608, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750587, rs63749863, rs63749868, rs63750035, rs63750604, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63750152, rs63750850, rs267607867, rs267607869, rs63751632, rs267607871, rs587778956, rs63749792, rs267607875, rs63750610, rs281864938, rs63751465, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs63751662, rs267607884, rs267607883, rs63750639, rs63750206, rs587778967, rs63750663, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs267607717, rs587778973, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs267607888, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63751642, rs63751022, rs587778983, rs587778984, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63749859, rs63750437, rs587778997, rs63749990, rs587778998, rs63750005, rs63750641, rs63751421, rs63750266, rs111052004, rs267607726, rs63750453, rs267607734, rs267607735, rs63751665, rs267607732, rs63749816, rs63750539, rs587779006, rs63751606, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs63750866, rs63750865, rs587779010, rs587779012, rs63750057, rs72481822, rs587779014, rs587779015, rs63751045, rs63749820, rs267607750, rs267607749, rs267607753, rs63750891, rs63749959, rs63749804, rs63750903, rs63750211, rs267607765, rs267607760, rs587779021, rs587779022, rs267607759, rs63750515, rs63750648, rs63751480, rs267607772, rs587779024, rs267607768, rs63751653, rs587779027, rs267607767, rs63750581, rs63750706, rs63750385, rs587779031, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs267607785, rs267607783, rs63750823, rs63750822, rs267607787, rs63750303, rs587779037, rs63750948, rs63749827, rs587779039, rs267607789, rs267607790, rs267607791, rs267607786, rs267607795, rs267607794, rs267607788, rs63750792, rs63749950, rs587779045, rs63750034, rs587779047, rs63750216, rs63750517, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs587779054, rs587779055, rs63751259, rs63749926, rs63750796, rs587779058, rs63751197, rs587779063, rs63750778, rs63751004, rs63751147, rs63751027, rs63750396, rs587779067, rs267607940, rs267607943, rs63751617, rs63750558, rs63750267, rs63749849, rs587779075, rs63750302, rs63750611, rs63750984, rs63750586, rs63751412, rs63751413, rs587779076, rs63751142, rs63750086, rs63750006, rs267607950, rs267607949, rs63751693, rs587779083, rs587779084, rs63750807, rs63749920, rs267607954, rs267607957, rs587779087, rs63750384, rs63750615, rs63750068, rs63749947, rs1114167806, rs63750936, rs267607962, rs587779097, rs63750780, rs63749930, rs63750224, rs63750094, rs63750337, rs63751656, rs267607969, rs267607972, rs63750597, rs267607970, rs267607971, rs587779101, rs587779103, rs63751149, rs63750474, rs587779105, rs63751411, rs587779108, rs267607976, rs63751140, rs587779110, rs267607977, rs63750200, rs63751236, rs267607985, rs63750951, rs587779112, rs63750493, rs267607984, rs63750312, rs63750508, rs63750280, rs63750160, rs63750203, rs63750960, rs63750893, rs63751317, rs587779119, rs267607986, rs267607987, rs587779125, rs267607988, rs267607990, rs63751640, rs63751123, rs587779129, rs587779131, rs267607995, rs63750199, rs587779133, rs63749993, rs63750232, rs63751432, rs267607994, rs63750961, rs63750398, rs587779136, rs267607915, rs267607914, rs267607917, rs587779138, rs63750636, rs63751453, rs587779139, rs63750572, rs267608002, rs267608006, rs267607979, rs267608001, rs63751155, rs63751477, rs63750042, rs63749854, rs587779143, rs63751105, rs63750346, rs63749848, rs63750618, rs63750149, rs63750233, rs63750803, rs63750463, rs63749983, rs63751018, rs63749917, rs267608010, rs267608012, rs63751621, rs63750623, rs63751117, rs63751447, rs587779148, rs63750857, rs587779149, rs63749830, rs63750849, rs63750291, rs63751618, rs267608019, rs267608017, rs63751624, rs267608020, rs587779153, rs63751469, rs267607920, rs63750084, rs63750808, rs63751007, rs63751429, rs63750970, rs63751099, rs63750318, rs587779157, rs63750501, rs63750614, rs587779159, rs63750458, rs267607924, rs267607925, rs63750924, rs63750704, rs63750408, rs63750910, rs63751426, rs63750624, rs63750214, rs63750582, rs587779163, rs63750843, rs63750933, rs63750070, rs587779164, rs63750382, rs63750551, rs63751444, rs63750088, rs587779165, rs63751326, rs63750682, rs63751110, rs63751136, rs587779167, rs63750574, rs63749984, rs63751622, rs63751274, rs267607689, rs587779169, rs267607930, rs267607929, rs63751602, rs587779170, rs63749897, rs63750426, rs281864944, rs63750488, rs63749832, rs63750347, rs267607934, rs587779185, rs63750091, rs63750276, rs63750097, rs587779189, rs587779190, rs587779191, rs63750934, rs63750885, rs63749915, rs63749914, rs63750640, rs587779193, rs587779195, rs12476364, rs587779198, rs63750502, rs63751044, rs63750630, rs63750468, rs63750828, rs267608156, rs587779326, rs587778617, rs587779330, rs267608169, rs63750477, rs63750793, rs63750250, rs63750490, rs63751422, rs201451115, rs587779333, rs267608170, rs267608161, rs267608172, rs63750695, rs587779336, rs267608173, rs267608160, rs1554306445, rs587779338, rs63751029, rs267608148, rs587779343, rs63750261, rs267608147, rs587779344, rs267608149, rs267608151, rs267608154, rs63750246, rs267608153, rs200640585, rs143277125, rs587779347, rs398123231, rs398123232, rs587779778, rs587779254, rs587779914, rs200492211, rs587779936, rs587779941, rs587779950, rs587779964, rs587779979, rs587780059, rs188006077, rs587780062, rs587780064, rs587780538, rs587778618, rs587780683, rs587780724, rs63751427, rs587781317, rs63750119, rs587781339, rs587781372, rs587781395, rs267608064, rs587781462, rs63750737, rs587781544, rs587781554, rs587781626, rs587781691, rs587781716, rs587782074, rs587782111, rs587782277, rs587782326, rs587782336, rs587782561, rs587782593, rs141577476, rs587782659, rs587782704, rs63751604, rs587782710, rs587782712, rs267607712, rs587782787, rs587783056, rs373885654, rs730881775, rs587779166, rs730881774, rs730881816, rs730881825, rs730881827, rs730881829, rs730881830, rs730881734, rs41542214, rs786202037, rs786203424, rs786203604, rs786201066, rs786203036, rs786201590, rs786203704, rs786201042, rs786203597, rs587782281, rs786202848, rs786201049, rs750528093, rs786202363, rs786202108, rs267608083, rs786201050, rs374230313, rs786203924, rs786202842, rs786203331, rs786201084, rs1553333738, rs267607716, rs786202328, rs786203456, rs786201990, rs786201039, rs786201062, rs778531080, rs786203073, rs63751228, rs786201047, rs573125799, rs786203954, rs786202098, rs587779340, rs763308607, rs786204082, rs786204144, rs786204050, rs786204252, rs786204104, rs786204321, rs869320619, rs863224481, rs863224833, rs863224473, rs863224829, rs863224474, rs863224475, rs863224476, rs863224480, rs63750549, rs863224498, rs863224497, rs863224496, rs267608159, rs863224450, rs863224676, rs863225397, rs863225386, rs863225387, rs267607953, rs863225389, rs863225390, rs370970617, rs759263820, rs863225392, rs863225394, rs863225395, rs863225402, rs863225421, rs863225398, rs863225399, rs863225400, rs863225403, rs863225404, rs863225406, rs587782562, rs863225408, rs863225409, rs863225412, rs863225416, rs863225418, rs863225383, rs863225384, rs863225377, rs863225378, rs863225381, rs864622041, rs63750059, rs1553350680, rs864622183, rs63749991, rs864622340, rs63750330, rs864622436, rs864622121, rs864622435, rs864622153, rs864622257, rs864622585, rs864622607, rs786203968, rs267607744, rs267607823, rs267607832, rs864622457, rs864622600, rs3209663, rs869312768, rs869312769, rs869312770, rs869312767, rs759151952, rs876657701, rs876661033, rs876661205, rs876661025, rs876661193, rs63749919, rs876661073, rs876661222, rs876661171, rs876661159, rs63749818, rs876658915, rs876661113, rs876661203, rs766389591, rs760228510, rs763939668, rs876660480, rs876658996, rs876660655, rs876658918, rs876658223, rs876660711, rs876658211, rs876660095, rs876658296, rs876660549, rs876658881, rs876660630, rs876659189, rs876660283, rs876660943, rs866771359, rs876658817, rs876658962, rs876658339, rs876658657, rs876658821, rs876659068, rs63750217, rs876659681, rs876659608, rs876659480, rs876659900, rs876660459, rs876658862, rs587782898, rs876658964, rs876659736, rs878853815, rs878853824, rs878853802, rs878853809, rs267608041, rs878853702, rs878853709, rs878853711, rs878853718, rs878853721, rs878853729, rs878853736, rs878853739, rs878853742, rs878853745, rs878853792, rs878853794, rs878853777, rs878853778, rs878853780, rs878853785, rs878853787, rs878854037, rs878854060, rs878854059, rs763872353, rs879254025, rs879254104, rs879253899, rs879254234, rs1553640314, rs886039424, rs886039646, rs886039615, rs886044911, rs63750058, rs1057517551, rs1057517541, rs756843954, rs1057517764, rs1057517763, rs1057517801, rs769742496, rs1057520605, rs1057520735, rs1057524433, rs786202083, rs1553350787, rs1060502035, rs267607694, rs1060502039, rs1060502014, rs1060502038, rs1060502032, rs1060502001, rs1060502000, rs1060502885, rs1060502941, rs1060502029, rs775464903, rs1064792951, rs1553413673, rs1060502918, rs1060502876, rs1060502888, rs1060502932, rs1060502901, rs1060502891, rs1060502940, rs1060502937, rs1060502926, rs1060502886, rs1060501993, rs1060501989, rs1060502890, rs1060502027, rs1060502023, rs1060501991, rs1060502903, rs1553333432, rs1060502875, rs1060502946, rs1060502882, rs1060502881, rs1060500689, rs764085979, rs1060500707, rs1064792918, rs1060500698, rs1060500699, rs1060500706, rs63750867, rs1060500688, rs1060500703, rs1060500692, rs1060500687, rs1060503142, rs111466480, rs1060503137, rs746766787, rs758304323, rs764342199, rs876659162, rs1554300763, rs730881920, rs1060503148, rs1060503110, rs1060503138, rs1064794155, rs1064794809, rs1553352505, rs267607939, rs876658187, rs1064793561, rs1064795653, rs1064795329, rs267608011, rs1064794075, rs1553411392, rs1023534466, rs1553412609, rs1064794388, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794943, rs876660853, rs1064793489, rs1064795629, rs1064794384, rs1553333072, rs1553333078, rs1553333127, rs1553333500, rs1064793895, rs760190301, rs1064795341, rs1064793607, rs587778968, rs1064795441, rs1064794612, rs1064795515, rs1064794267, rs1064793823, rs1064794331, rs63750978, rs1064796500, rs1064794566, rs1064793234, rs757324104, rs1064794905, rs1064795447, rs1064796190, rs1064793868, rs1554304940, rs1064794083, rs1064795705, rs1064794173, rs1064794152, rs1085308057, rs1114167435, rs1114167883, rs1114167831, rs1114167877, rs1114167855, rs587782537, rs1114167814, rs1114167848, rs1114167845, rs979212552, rs1114167809, rs1114167858, rs1553356720, rs1114167833, rs1114167852, rs1114167835, rs1114167854, rs1114167815, rs267607982, rs1114167844, rs1114167805, rs730881762, rs1114167857, rs1114167832, rs1114167826, rs1114167841, rs1114167828, rs1114167818, rs1114167719, rs1114167776, rs1114167689, rs1114167728, rs1114167692, rs1114167725, rs1114167704, rs1114167696, rs1114167748, rs1114167763, rs1114167804, rs1114167731, rs1114167801, rs753796271, rs1114167736, rs1114167756, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167702, rs1114167765, rs587780670, rs1114167766, rs777159874, rs587782638, rs1114167747, rs1114167709, rs1114167694, rs786204048, rs1114167771, rs1114167794, rs1114167714, rs765411990, rs587782862, rs1114167773, rs1114167724, rs1114167707, rs1114167782, rs1114167793, rs1114167767, rs766905993, rs1114167723, rs1114167755, rs752404604, rs1114167706, rs1114167717, rs1114167783, rs1114167760, rs1553333599, rs1553333615, rs1553333644, rs1114167790, rs587779297, rs1553351549, rs753075410, rs63751271, rs371776176, rs63750689, rs1553369164, rs202145681, rs1553370310, rs1230083633, rs1553412966, rs1553413710, rs1348956744, rs1553331290, rs1553333421, rs1553333598, rs1416452389, rs1553333707, rs1553641362, rs63751448, rs1553648058, rs587778937, rs1553662753, rs1554292880, rs988423880, rs1553353114, rs63751119, rs1553647995, rs1553663750, rs1458321358, rs730881919, rs1553413178, rs63750443, rs63751596, rs1554309086, rs1553348794, rs1553348882, rs1553348898, rs1553348901, rs1553370371, rs1553365799, rs1553370431, rs1553366510, rs1553408158, rs1553366680, rs1553370404, rs1553411419, rs1553408136, rs1553412397, rs869040863, rs1553348842, rs1553348904, rs1553413599, rs1553413655, rs1553413732, rs1553414022, rs767021188, rs1553350966, rs1553412409, rs796532309, rs587779064, rs1553365711, rs1553333017, rs1553412649, rs1553333175, rs1553333301, rs1553333605, rs1553369100, rs1553369131, rs1553331722, rs1324100572, rs1553332776, rs761037236, rs1553412755, rs1553333438, rs1553333449, rs1553412835, rs1553412735, rs1553413424, rs1553414131, rs1553331337, rs1553332297, rs773262801, rs1553333185, rs1553331454, rs1553332151, rs1553333530, rs1553333633, rs587779285, rs1553333310, rs1553333321, rs1553333497, rs1553646681, rs1553647894, rs1553648195, rs1553653158, rs550890395, rs1064796057, rs1553651130, rs1553662800, rs1553665467, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1553652930, rs1434898623, rs1553665683, rs1554298087, rs1554295967, rs1554297040, rs1554298741, rs1554294393, rs1554297523, rs1554293920, rs1554301486, rs1554304974, rs1553348896, rs1553368675, rs1203462814, rs1553369665, rs1553350721, rs1553369812, rs1553361261, rs1553370443, rs1553408388, rs1553413717, rs63749973, rs1553412064, rs1553408467, rs267608062, rs765873566, rs730881815, rs1553414578, rs1553331665, rs1553331366, rs1553332166, rs1553413663, rs1553332622, rs1553333164, rs63751137, rs1553642777, rs1553648068, rs1553332733, rs1553644123, rs1553648149, rs1302248679, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664702, rs1553647969, rs1437454428, rs1231406078, rs1554293991, rs1554297488, rs1554297534, rs1064794577, rs1554297764, rs1554298082, rs876661256, rs1554298056, rs1554293810, rs939641251, rs1554304979, rs1554297058, rs1554298067, rs1554306288, rs151244108, rs1553412129, rs1054003194, rs1553412824, rs1553413253, rs1553332671, rs1553333168, rs1553333700, rs63751101, rs1553646764, rs1554300689, rs1554297877, rs1437858319, rs1432436629, rs1553648225, rs1553352462, rs1553332772, rs1553648201, rs1553333635, rs1554297125, rs753256070, rs1553414092, rs587779923, rs1554297962, rs1553361162, rs1554294448, rs1553412495, rs1253275403, rs1553350167, rs267607937, rs1553361231, rs730881755, rs1553408306, rs1553365719, rs1553370366, rs1553370397, rs1553412441, rs1553412960, rs1553411391, rs770110491, rs1553350466, rs1553350758, rs1553413116, rs1553413294, rs1553413074, rs1553361289, rs1553413640, rs1553413784, rs1553414488, rs1553331242, rs1553410300, rs1553414498, rs1553332312, rs1553412502, rs1114167705, rs1553331659, rs1553332768, rs1553414102, rs1553414395, rs1553414519, rs1553331228, rs1553333674, rs1553638868, rs1553663981, rs1553644277, rs1553665866, rs1554297082, rs1554297564, rs1394474494, rs1554293959, rs587782175, rs1554297285, rs1554298786, rs1553356605, rs1553356700, rs1553369034, rs1553370435, rs1553413305, rs1553331304, rs1553652883, rs63751435, rs1553653195, rs1553662622, rs1554293975, rs1554297164, rs1554297342, rs1554297636, rs1461669945, rs1553658104, rs1553350250, rs1553410230, rs1554304745, rs1554298756, rs1553648220, rs1559543768, rs745487791, rs1558438591, rs1558508067, rs1558508343, rs1558645195, rs1558658971, rs1558661368, rs1558663954, rs1558390582, rs1558392228, rs1558461615, rs1558466434, rs1558519611, rs1558521949, rs1558644886, rs587782101, rs1558661380, rs1558662873, rs1558392033, rs1558394093, rs1559544064, rs63750584, rs1558459096, rs1060501994, rs63751667, rs878853704, rs1558665297, rs1558387361, rs1558393006, rs1558394104, rs1559524070, rs1559530646, rs1553645226, rs1559551570, rs1559575107, rs1559597322, rs1558451119, rs1558459882, rs1558478567, rs1562605623, rs1562614946, rs781078805, rs1558644683, rs1558658980, rs1558659056, rs1558659699, rs1558667222, rs1558668156, rs1558668258, rs1558393070, rs1558394336, rs1562626204, rs1562629003, rs1562632035, rs587782602, rs1562634737, rs1562635799, rs1562669585, rs1060500702, rs1559539489, rs1559553501, rs1562616355, rs1562644987, rs764171734, rs1562711587, rs1562598658, rs1562604682, rs1562664845, rs1562678257, rs1558666177, rs1562633172, rs1559558071, rs1261282733, rs63750832, rs587778978, rs1064795063, rs1558511051, rs63751097, rs765763906, rs1562626070, rs1562671039, rs1558518588, rs1558461683, rs63751115, rs1558644995, rs1558659265, rs1558660612, rs1559521039, rs1559574795, rs1562626011, rs1562636427, rs1559578422, rs772491283, rs1573424223, rs730881784, rs1573446614, rs1573451108, rs1558464008, rs1573484655, rs1573566217, rs1573566488, rs1573567212, rs63750078, rs1573567340, rs1573567537, rs1573567630, rs1573569948, rs1573570621, rs1573574086, rs1573578423, rs1573578439, rs1573579206, rs1572698011, rs1572708636, rs1473648816, rs1276159036, rs1572716371, rs1572719776, rs1572719974, rs1572720016, rs1572720562, rs1572720704, rs778555956, rs1553412720, rs1572723270, rs1572723640, rs587779221, rs1572725436, rs1572725803, rs1572726309, rs1572726468, rs63750985, rs1572727440, rs1572727797, rs1572729033, rs367758473, rs587779253, rs1572730002, rs1572730065, rs1315445200, rs1572735072, rs1572735943, rs1572738865, rs1572745157, rs754469538, rs1572746365, rs1572747837, rs1575376458, rs1575376830, rs1575395515, rs63750507, rs1575469070, rs1575481212, rs1575537843, rs1575620443, rs1575621386, rs1575621506, rs63750740, rs1386031101, rs1575640892, rs1583285552, rs1583299686, rs1583318494, rs1583320992, rs1243063129, rs757679199, rs1583375182, rs762387250, rs36038802, rs267608035, rs1572716545, rs1572739097, rs1575628928, rs746306598, rs1572747278, rs1572747685, rs1583374709, rs1572708580, rs1572736122, rs1575414321, rs1573437173, rs1573456772, rs1583316404, rs1583363851, rs1572727176, rs1573423412, rs1573440880, rs1573442100, rs369670665, rs1573451078, rs1573547745, rs1573548065, rs1573553636, rs1573567132, rs63750234, rs63751409, rs138465383, rs1573573619, rs1572720192, rs1572720794, rs1572722737, rs1572723723, rs1572725235, rs745483465, rs1572728039, rs1572728112, rs1572728472, rs1572729161, rs1175196087, rs1572736128, rs1572738533, rs1572739043, rs891318615, rs1572741984, rs1572745084, rs1572746382, rs1572746488, rs1060504739, rs1575414904, rs1575448385, rs1575469505, rs1466223609, rs63750198, rs1575639851, rs1575640960, rs1583269216, rs1583285344, rs1583319050, rs1583334346, rs1562651617, rs1583410315, rs767028531, rs1573566175, rs1572739119, rs1572746025, rs1575449402, rs1325835006, rs1672250353, rs1672664863, rs1672951706, rs1673066717, rs1673067879, rs1673070318, rs1666728055, rs1667076589, rs63751433, rs1667245819, rs1667245915, rs1667313093, rs1667395869, rs1667504677, rs1668118988, rs1668692410, rs587779313, rs1669058948, rs1669059418, rs1669245178, rs1669252923, rs1669287624, rs1007311950, rs1669354866, rs1669364351, rs1669365820, rs41295270, rs1669441162, rs1669445829, rs1669451548, rs1669467747, rs1669486855, rs1669487701, rs1669491751, rs1669493890, rs1669760609, rs1669874125, rs1670044220, rs1670120965, rs2080898853, rs2080899985, rs2081922847, rs2083403132, rs2083405700, rs2085310643, rs2085311497, rs2085415927, rs2085469647, rs1782934080, rs1782947222, rs1782958183, rs1782962828, rs1064793426, rs63750456, rs1783004175, rs1783147885, rs1783516106, rs1344095646, rs1784299649, rs1784536095, rs1784802468, rs1784806713, rs1221485925, rs1299958102, rs1669882321, rs2082517369, rs1673083690, rs1667266283, rs1307026290, rs1672953209, rs1667575488	18682749
Ependymoma	Ependymoma, Cellular Ependymoma	rs1555165565, rs1555993293	26075792
Prostate cancer	Malignant neoplasm of prostate, Prostate cancer, familial, Familial prostate cancer	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	16155194, 15300251

Unknown
Disease term	Disease name	Evidence	References	Source
Anaplastic ependymoma	Anaplastic Ependymoma		26075792	ClinVar
Platelet-type bleeding disorder	bleeding disorder, platelet-type, 22			GenCC
Diabetes	Diabetes			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
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
Carcinoma Non Small Cell Lung	Associate	22240786, 24117170, 25474307, 29455644, 33150167, 33656275
Carcinoma Pancreatic Ductal	Associate	23437362
Cholangiocarcinoma	Associate	25012246
Colonic Neoplasms	Associate	11920461, 37023088
Colorectal Neoplasms	Associate	16740153, 18682749, 21393996, 21603658, 27398792, 29915291, 34911835, 35272617
COVID 19	Associate	36394763
Esophageal Squamous Cell Carcinoma	Associate	29867084, 32457351, 36870981
Glioblastoma	Associate	27132626
Glioma	Associate	31794427, 38286348
Hemorrhage	Associate	30213874
HIV Infections	Inhibit	23314923
Hypoxia	Associate	25596742
Intestinal Polyposis	Associate	16740153
Landau Kleffner Syndrome	Associate	24828792
Leukemia	Associate	17726105, 18394702
Leukemia Basophilic Acute	Associate	30213874
Leukemia Lymphocytic Chronic B Cell	Associate	25329694, 27534555
Leukemia Myeloid Acute	Associate	17726105, 24764074, 32393312
Leukemia Myelomonocytic Juvenile	Associate	23620576
Liver Cirrhosis	Associate	36834826
Lung Neoplasms	Associate	28422715
Lymphatic Metastasis	Inhibit	33450435
Lymphoma T Cell	Associate	26854024
Mammary Neoplasms Animal	Associate	16891313
Melanoma	Associate	35260073, 37252843
Mesothelioma	Associate	23887168
Mesothelioma Malignant	Associate	23887168
Mitochondrial Diseases	Associate	30118525
Multiple Myeloma	Associate	34558606
Neoplasm Invasiveness	Inhibit	34296545
Neoplasm Metastasis	Associate	25012246, 27574806
Neoplasms	Associate	12136247, 16155194, 16740153, 16891313, 17145753, 18682749, 20572035, 20838624, 22941289, 24091658, 26367378, 27222248, 27574806, 28521298, 28950062, 30036518, 32319594, 32457351, 32664510, 33450435, 33656275, 35303882, 36897912, 39198775
Neoplasms	Inhibit	21393996, 33824421
Neoplasms	Stimulate	26468985, 28231727
Neoplasms Squamous Cell	Associate	25348954
Neuroblastoma	Associate	25756510
Neurofibrosarcoma	Stimulate	27494873
Pancreatic Neoplasms	Associate	22907845, 23437362, 31147453
Pancreatitis	Associate	35226426
Plaque Atherosclerotic	Associate	21672356, 32337793
Polycystic Kidney Autosomal Dominant	Associate	16870608
Prostate cancer familial	Associate	21603658
Prostatic Neoplasms	Associate	16155194, 16507112, 21603658, 33824421
Prostatitis	Associate	19454503
Pulmonary Disease Chronic Obstructive	Associate	39695952
Rhabdomyosarcoma	Associate	18507018
Rhabdomyosarcoma Alveolar	Associate	35377340
Sleep Deprivation	Associate	27788485
Small Cell Lung Carcinoma	Associate	25122427
Squamous Cell Carcinoma of Head and Neck	Associate	36203528
Stomach Neoplasms	Associate	12136247, 33450435
Thrombosis	Associate	30213874
Triple Negative Breast Neoplasms	Associate	31388935
Tyrosine Kinase 2 Deficiency	Stimulate	34811450
Urinary Bladder Neoplasms	Associate	34296545
Wounds and Injuries	Associate	23314923