PLXNB2 (plexin B2)

Gene

• Entrez ID: 23654
• Gene name: Plexin B2
• Gene symbol: PLXNB2
• Synonyms (NCBI Gene): MM1, Nbla00445, PLEXB2, dJ402G11.3, lncFAL
• Chromosome: 22
• Chromosome location: 22q13.33
• Summary: Members of the B class of plexins, such as PLXNB2 are transmembrane receptors that participate in axon guidance and cell migration in response to semaphorins (Perrot et al. (2002) [PubMed 12183458]).[supplied by OMIM, Mar 2008]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023196	hsa-miR-124-3p	Microarray	18668037
MIRT024067	hsa-miR-1-3p	Proteomics	18668040
MIRT051886	hsa-let-7b-5p	CLASH	23622248
MIRT046780	hsa-miR-222-3p	CLASH	23622248
MIRT046780	hsa-miR-222-3p	CLASH	23622248
MIRT044983	hsa-miR-186-5p	CLASH	23622248
MIRT043447	hsa-miR-331-3p	CLASH	23622248
MIRT039807	hsa-miR-615-3p	CLASH	23622248
MIRT039807	hsa-miR-615-3p	CLASH	23622248
MIRT439944	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439944	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT736880	hsa-miR-138-5p	Luciferase reporter assay, Western blotting, Microarray, RNA-seq, qRT-PCR, Flow cytometry	32188026
MIRT1243829	hsa-miR-1180	CLIP-seq
MIRT1243830	hsa-miR-125a-5p	CLIP-seq
MIRT1243831	hsa-miR-125b	CLIP-seq
MIRT1243832	hsa-miR-126	CLIP-seq
MIRT1243833	hsa-miR-1266	CLIP-seq
MIRT1243834	hsa-miR-1270	CLIP-seq
MIRT1243835	hsa-miR-1294	CLIP-seq
MIRT1243836	hsa-miR-138	CLIP-seq
MIRT1243837	hsa-miR-139-5p	CLIP-seq
MIRT1243838	hsa-miR-1912	CLIP-seq
MIRT1243839	hsa-miR-2110	CLIP-seq
MIRT1243840	hsa-miR-221	CLIP-seq
MIRT1243841	hsa-miR-222	CLIP-seq
MIRT1243842	hsa-miR-3130-3p	CLIP-seq
MIRT1243843	hsa-miR-3150a-3p	CLIP-seq
MIRT1243844	hsa-miR-3175	CLIP-seq
MIRT1243845	hsa-miR-3178	CLIP-seq
MIRT1243846	hsa-miR-3180	CLIP-seq
MIRT1243847	hsa-miR-3180-3p	CLIP-seq
MIRT1243848	hsa-miR-3184	CLIP-seq
MIRT1243849	hsa-miR-3189-3p	CLIP-seq
MIRT1243850	hsa-miR-3196	CLIP-seq
MIRT1243851	hsa-miR-3664-3p	CLIP-seq
MIRT1243852	hsa-miR-371-3p	CLIP-seq
MIRT1243853	hsa-miR-3714	CLIP-seq
MIRT1243854	hsa-miR-3907	CLIP-seq
MIRT1243855	hsa-miR-3910	CLIP-seq
MIRT1243856	hsa-miR-423-5p	CLIP-seq
MIRT1243857	hsa-miR-4260	CLIP-seq
MIRT1243858	hsa-miR-4279	CLIP-seq
MIRT1243859	hsa-miR-4283	CLIP-seq
MIRT1243860	hsa-miR-4300	CLIP-seq
MIRT1243861	hsa-miR-4305	CLIP-seq
MIRT1243862	hsa-miR-4319	CLIP-seq
MIRT1243863	hsa-miR-4419a	CLIP-seq
MIRT1243864	hsa-miR-4466	CLIP-seq
MIRT1243865	hsa-miR-4476	CLIP-seq
MIRT1243866	hsa-miR-4486	CLIP-seq
MIRT1243867	hsa-miR-4487	CLIP-seq
MIRT1243868	hsa-miR-4489	CLIP-seq
MIRT1243869	hsa-miR-4492	CLIP-seq
MIRT1243870	hsa-miR-4498	CLIP-seq
MIRT1243871	hsa-miR-4505	CLIP-seq
MIRT1243872	hsa-miR-4510	CLIP-seq
MIRT1243873	hsa-miR-4518	CLIP-seq
MIRT1243874	hsa-miR-4683	CLIP-seq
MIRT1243875	hsa-miR-4710	CLIP-seq
MIRT1243876	hsa-miR-4731-5p	CLIP-seq
MIRT1243877	hsa-miR-4734	CLIP-seq
MIRT1243878	hsa-miR-4743	CLIP-seq
MIRT1243879	hsa-miR-4746-3p	CLIP-seq
MIRT1243880	hsa-miR-487b	CLIP-seq
MIRT1243881	hsa-miR-544b	CLIP-seq
MIRT1243882	hsa-miR-548q	CLIP-seq
MIRT1243883	hsa-miR-548v	CLIP-seq
MIRT1243884	hsa-miR-620	CLIP-seq
MIRT1243885	hsa-miR-675	CLIP-seq
MIRT1243886	hsa-miR-759	CLIP-seq
MIRT1243887	hsa-miR-762	CLIP-seq
MIRT1243888	hsa-miR-873	CLIP-seq
MIRT1243889	hsa-miR-920	CLIP-seq
MIRT1243890	hsa-miR-939	CLIP-seq
MIRT1243832	hsa-miR-126	CLIP-seq
MIRT2072066	hsa-miR-1265	CLIP-seq
MIRT1243835	hsa-miR-1294	CLIP-seq
MIRT1243836	hsa-miR-138	CLIP-seq
MIRT2072067	hsa-miR-192	CLIP-seq
MIRT1243839	hsa-miR-2110	CLIP-seq
MIRT2072068	hsa-miR-215	CLIP-seq
MIRT1243843	hsa-miR-3150a-3p	CLIP-seq
MIRT2072069	hsa-miR-3165	CLIP-seq
MIRT1243844	hsa-miR-3175	CLIP-seq
MIRT1243848	hsa-miR-3184	CLIP-seq
MIRT1243849	hsa-miR-3189-3p	CLIP-seq
MIRT2072070	hsa-miR-3614-5p	CLIP-seq
MIRT1243854	hsa-miR-3907	CLIP-seq
MIRT1243855	hsa-miR-3910	CLIP-seq
MIRT1243856	hsa-miR-423-5p	CLIP-seq
MIRT1243858	hsa-miR-4279	CLIP-seq
MIRT1243859	hsa-miR-4283	CLIP-seq
MIRT1243865	hsa-miR-4476	CLIP-seq
MIRT1243868	hsa-miR-4489	CLIP-seq
MIRT1243869	hsa-miR-4492	CLIP-seq
MIRT1243870	hsa-miR-4498	CLIP-seq
MIRT1243871	hsa-miR-4505	CLIP-seq
MIRT2072071	hsa-miR-4651	CLIP-seq
MIRT1243875	hsa-miR-4710	CLIP-seq
MIRT1243876	hsa-miR-4731-5p	CLIP-seq
MIRT1243880	hsa-miR-487b	CLIP-seq
MIRT1243882	hsa-miR-548q	CLIP-seq
MIRT2072072	hsa-miR-608	CLIP-seq
MIRT2072073	hsa-miR-654-3p	CLIP-seq
MIRT1243887	hsa-miR-762	CLIP-seq
MIRT1243888	hsa-miR-873	CLIP-seq
MIRT1243890	hsa-miR-939	CLIP-seq
MIRT1243830	hsa-miR-125a-5p	CLIP-seq
MIRT1243831	hsa-miR-125b	CLIP-seq
MIRT1243832	hsa-miR-126	CLIP-seq
MIRT1243833	hsa-miR-1266	CLIP-seq
MIRT1243835	hsa-miR-1294	CLIP-seq
MIRT2299122	hsa-miR-1305	CLIP-seq
MIRT1243838	hsa-miR-1912	CLIP-seq
MIRT2072067	hsa-miR-192	CLIP-seq
MIRT1243839	hsa-miR-2110	CLIP-seq
MIRT2072068	hsa-miR-215	CLIP-seq
MIRT1243843	hsa-miR-3150a-3p	CLIP-seq
MIRT1243844	hsa-miR-3175	CLIP-seq
MIRT1243848	hsa-miR-3184	CLIP-seq
MIRT1243849	hsa-miR-3189-3p	CLIP-seq
MIRT2299123	hsa-miR-34b	CLIP-seq
MIRT2299124	hsa-miR-3660	CLIP-seq
MIRT1243851	hsa-miR-3664-3p	CLIP-seq
MIRT2299125	hsa-miR-3671	CLIP-seq
MIRT1243852	hsa-miR-371-3p	CLIP-seq
MIRT1243853	hsa-miR-3714	CLIP-seq
MIRT1243855	hsa-miR-3910	CLIP-seq
MIRT1243856	hsa-miR-423-5p	CLIP-seq
MIRT1243858	hsa-miR-4279	CLIP-seq
MIRT1243859	hsa-miR-4283	CLIP-seq
MIRT1243862	hsa-miR-4319	CLIP-seq
MIRT2299126	hsa-miR-4436b-3p	CLIP-seq
MIRT1243865	hsa-miR-4476	CLIP-seq
MIRT1243868	hsa-miR-4489	CLIP-seq
MIRT1243873	hsa-miR-4518	CLIP-seq
MIRT2299127	hsa-miR-4526	CLIP-seq
MIRT2072071	hsa-miR-4651	CLIP-seq
MIRT1243875	hsa-miR-4710	CLIP-seq
MIRT2299128	hsa-miR-4761-3p	CLIP-seq
MIRT2299129	hsa-miR-4762-5p	CLIP-seq
MIRT2299130	hsa-miR-4777-3p	CLIP-seq
MIRT1243880	hsa-miR-487b	CLIP-seq
MIRT1243881	hsa-miR-544b	CLIP-seq
MIRT2299131	hsa-miR-607	CLIP-seq
MIRT2072072	hsa-miR-608	CLIP-seq
MIRT1243886	hsa-miR-759	CLIP-seq
MIRT1243888	hsa-miR-873	CLIP-seq
MIRT1243890	hsa-miR-939	CLIP-seq
MIRT2432194	hsa-miR-1293	CLIP-seq
MIRT2432195	hsa-miR-323-5p	CLIP-seq
MIRT2432196	hsa-miR-342-5p	CLIP-seq
MIRT2432197	hsa-miR-3936	CLIP-seq
MIRT2432198	hsa-miR-432	CLIP-seq
MIRT2432199	hsa-miR-4483	CLIP-seq
MIRT2432200	hsa-miR-4515	CLIP-seq
MIRT2072071	hsa-miR-4651	CLIP-seq
MIRT2432201	hsa-miR-4664-5p	CLIP-seq
MIRT2432202	hsa-miR-520d-5p	CLIP-seq
MIRT2432203	hsa-miR-524-5p	CLIP-seq
MIRT1243882	hsa-miR-548q	CLIP-seq
MIRT2072072	hsa-miR-608	CLIP-seq
MIRT1243832	hsa-miR-126	CLIP-seq
MIRT1243835	hsa-miR-1294	CLIP-seq
MIRT1243838	hsa-miR-1912	CLIP-seq
MIRT2072067	hsa-miR-192	CLIP-seq
MIRT1243839	hsa-miR-2110	CLIP-seq
MIRT2072068	hsa-miR-215	CLIP-seq
MIRT1243843	hsa-miR-3150a-3p	CLIP-seq
MIRT2439570	hsa-miR-3151	CLIP-seq
MIRT1243844	hsa-miR-3175	CLIP-seq
MIRT1243849	hsa-miR-3189-3p	CLIP-seq
MIRT2439571	hsa-miR-361-3p	CLIP-seq
MIRT1243852	hsa-miR-371-3p	CLIP-seq
MIRT1243855	hsa-miR-3910	CLIP-seq
MIRT1243865	hsa-miR-4476	CLIP-seq
MIRT2439572	hsa-miR-4530	CLIP-seq
MIRT1243875	hsa-miR-4710	CLIP-seq
MIRT1243880	hsa-miR-487b	CLIP-seq
MIRT1243886	hsa-miR-759	CLIP-seq
MIRT1243888	hsa-miR-873	CLIP-seq
MIRT1243890	hsa-miR-939	CLIP-seq
MIRT1243855	hsa-miR-3910	CLIP-seq
MIRT2595966	hsa-miR-1231	CLIP-seq
MIRT2072066	hsa-miR-1265	CLIP-seq
MIRT2595967	hsa-miR-1285	CLIP-seq
MIRT2595968	hsa-miR-1292	CLIP-seq
MIRT1243836	hsa-miR-138	CLIP-seq
MIRT2595969	hsa-miR-146b-3p	CLIP-seq
MIRT1243838	hsa-miR-1912	CLIP-seq
MIRT2595970	hsa-miR-1913	CLIP-seq
MIRT2595971	hsa-miR-1915	CLIP-seq
MIRT2072067	hsa-miR-192	CLIP-seq
MIRT2072068	hsa-miR-215	CLIP-seq
MIRT2595972	hsa-miR-22	CLIP-seq
MIRT2595973	hsa-miR-296-5p	CLIP-seq
MIRT2595974	hsa-miR-3117-3p	CLIP-seq
MIRT2595975	hsa-miR-3136-3p	CLIP-seq
MIRT2439570	hsa-miR-3151	CLIP-seq
MIRT2595976	hsa-miR-3157-3p	CLIP-seq
MIRT2595977	hsa-miR-3169	CLIP-seq
MIRT2595978	hsa-miR-3173-5p	CLIP-seq
MIRT2595979	hsa-miR-3187-5p	CLIP-seq
MIRT2595980	hsa-miR-3192	CLIP-seq
MIRT2595981	hsa-miR-324-3p	CLIP-seq
MIRT2595982	hsa-miR-3612	CLIP-seq
MIRT2439571	hsa-miR-361-3p	CLIP-seq
MIRT2072070	hsa-miR-3614-5p	CLIP-seq
MIRT2595983	hsa-miR-3622b-5p	CLIP-seq
MIRT1243852	hsa-miR-371-3p	CLIP-seq
MIRT2595984	hsa-miR-378g	CLIP-seq
MIRT2595985	hsa-miR-4253	CLIP-seq
MIRT2595986	hsa-miR-4292	CLIP-seq
MIRT2595987	hsa-miR-4313	CLIP-seq
MIRT2595988	hsa-miR-4314	CLIP-seq
MIRT2595989	hsa-miR-4330	CLIP-seq
MIRT2299126	hsa-miR-4436b-3p	CLIP-seq
MIRT2595990	hsa-miR-4443	CLIP-seq
MIRT1243864	hsa-miR-4466	CLIP-seq
MIRT2595991	hsa-miR-4471	CLIP-seq
MIRT1243866	hsa-miR-4486	CLIP-seq
MIRT2595992	hsa-miR-4488	CLIP-seq
MIRT2439572	hsa-miR-4530	CLIP-seq
MIRT2595993	hsa-miR-4646-5p	CLIP-seq
MIRT2595994	hsa-miR-4661-3p	CLIP-seq
MIRT2595995	hsa-miR-4697-5p	CLIP-seq
MIRT2595996	hsa-miR-4714-3p	CLIP-seq
MIRT2595997	hsa-miR-4759	CLIP-seq
MIRT2299128	hsa-miR-4761-3p	CLIP-seq
MIRT2595998	hsa-miR-4802-5p	CLIP-seq
MIRT1243882	hsa-miR-548q	CLIP-seq
MIRT2595999	hsa-miR-612	CLIP-seq
MIRT2596000	hsa-miR-637	CLIP-seq
MIRT2596001	hsa-miR-650	CLIP-seq
MIRT2072073	hsa-miR-654-3p	CLIP-seq
MIRT2596002	hsa-miR-658	CLIP-seq
MIRT1243885	hsa-miR-675	CLIP-seq
MIRT1243886	hsa-miR-759	CLIP-seq
MIRT2596003	hsa-miR-874	CLIP-seq
MIRT2595966	hsa-miR-1231	CLIP-seq
MIRT2072066	hsa-miR-1265	CLIP-seq
MIRT2595967	hsa-miR-1285	CLIP-seq
MIRT2595968	hsa-miR-1292	CLIP-seq
MIRT1243836	hsa-miR-138	CLIP-seq
MIRT2595969	hsa-miR-146b-3p	CLIP-seq
MIRT1243838	hsa-miR-1912	CLIP-seq
MIRT2595971	hsa-miR-1915	CLIP-seq
MIRT2072067	hsa-miR-192	CLIP-seq
MIRT2072068	hsa-miR-215	CLIP-seq
MIRT2595973	hsa-miR-296-5p	CLIP-seq
MIRT2595974	hsa-miR-3117-3p	CLIP-seq
MIRT2595975	hsa-miR-3136-3p	CLIP-seq
MIRT2439570	hsa-miR-3151	CLIP-seq
MIRT2595976	hsa-miR-3157-3p	CLIP-seq
MIRT2595977	hsa-miR-3169	CLIP-seq
MIRT2595978	hsa-miR-3173-5p	CLIP-seq
MIRT2595979	hsa-miR-3187-5p	CLIP-seq
MIRT2595980	hsa-miR-3192	CLIP-seq
MIRT2595982	hsa-miR-3612	CLIP-seq
MIRT2439571	hsa-miR-361-3p	CLIP-seq
MIRT2072070	hsa-miR-3614-5p	CLIP-seq
MIRT2595983	hsa-miR-3622b-5p	CLIP-seq
MIRT1243852	hsa-miR-371-3p	CLIP-seq
MIRT2595984	hsa-miR-378g	CLIP-seq
MIRT2595985	hsa-miR-4253	CLIP-seq
MIRT2595986	hsa-miR-4292	CLIP-seq
MIRT2595988	hsa-miR-4314	CLIP-seq
MIRT2595989	hsa-miR-4330	CLIP-seq
MIRT2299126	hsa-miR-4436b-3p	CLIP-seq
MIRT2595990	hsa-miR-4443	CLIP-seq
MIRT1243864	hsa-miR-4466	CLIP-seq
MIRT2595991	hsa-miR-4471	CLIP-seq
MIRT1243866	hsa-miR-4486	CLIP-seq
MIRT2595992	hsa-miR-4488	CLIP-seq
MIRT2439572	hsa-miR-4530	CLIP-seq
MIRT2595993	hsa-miR-4646-5p	CLIP-seq
MIRT2595994	hsa-miR-4661-3p	CLIP-seq
MIRT2595995	hsa-miR-4697-5p	CLIP-seq
MIRT2595996	hsa-miR-4714-3p	CLIP-seq
MIRT2595997	hsa-miR-4759	CLIP-seq
MIRT2299128	hsa-miR-4761-3p	CLIP-seq
MIRT2595998	hsa-miR-4802-5p	CLIP-seq
MIRT1243882	hsa-miR-548q	CLIP-seq
MIRT2595999	hsa-miR-612	CLIP-seq
MIRT2596000	hsa-miR-637	CLIP-seq
MIRT2596001	hsa-miR-650	CLIP-seq
MIRT2072073	hsa-miR-654-3p	CLIP-seq
MIRT1243885	hsa-miR-675	CLIP-seq
MIRT1243886	hsa-miR-759	CLIP-seq
MIRT2596003	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0001932	Process	Regulation of protein phosphorylation	ISS
GO:0002116	Component	Semaphorin receptor complex	IBA
GO:0002181	Process	Cytoplasmic translation	IDA	38718836
GO:0004888	Function	Transmembrane signaling receptor activity	IDA	29100074
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	15184888, 29040270
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12533544
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006898	Process	Receptor-mediated endocytosis	IDA	29100074
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	16122393
GO:0007162	Process	Negative regulation of cell adhesion	IBA
GO:0007405	Process	Neuroblast proliferation	IEA
GO:0007405	Process	Neuroblast proliferation	ISS
GO:0007416	Process	Synapse assembly	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008360	Process	Regulation of cell shape	IBA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0009986	Component	Cell surface	HDA	19581412
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0010976	Process	Positive regulation of neuron projection development	IDA	16122393
GO:0016020	Component	Membrane	IEA
GO:0017154	Function	Semaphorin receptor activity	IBA
GO:0017154	Function	Semaphorin receptor activity	IEA
GO:0017154	Function	Semaphorin receptor activity	ISS
GO:0030334	Process	Regulation of cell migration	IBA
GO:0031346	Process	Positive regulation of cell projection organization	IEA
GO:0032055	Process	Negative regulation of translation in response to stress	IDA	38718836
GO:0033554	Process	Cellular response to stress	IDA	38718836
GO:0036416	Process	TRNA stabilization	IDA	23843625
GO:0038023	Function	Signaling receptor activity	IDA	29100074
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0045727	Process	Positive regulation of translation	IMP	29100074
GO:0050772	Process	Positive regulation of axonogenesis	IBA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0051246	Process	Regulation of protein metabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS
GO:1904861	Process	Excitatory synapse assembly	IEA
GO:1904861	Process	Excitatory synapse assembly	ISS
GO:2001222	Process	Regulation of neuron migration	IEA
GO:2001222	Process	Regulation of neuron migration	ISS

Other IDs

• MIM: 604293
• HGNC: 9104
• e!Ensembl: ENSG00000196576

Protein

• UniProt ID: O15031
• Protein name: Plexin-B2 (MM1)
• Protein function: Cell surface receptor for SEMA4C, SEMA4D and SEMA4G that plays an important role in cell-cell signaling (By similarity). Plays a role in glutamatergic synapse development and is required for SEMA4A-mediated excitatory synapse development (By sim
• PDB: 4E71
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	36 → 447	Sema domain	Family
  PF01437	PSI	468 → 519	Plexin repeat	Family
  PF17960	TIG_plexin	525 → 613	TIG domain	Domain
  PF01833	TIG	803 → 892	IPT/TIG domain	Domain
  PF01833	TIG	895 → 979	IPT/TIG domain	Domain
  PF01833	TIG	983 → 1091	IPT/TIG domain	Domain
  PF08337	Plexin_cytopl	1271 → 1805	Plexin cytoplasmic RasGAP domain	Family

• Sequence:

  MALQLWALTLLGLLGAGASLRPRKLDFFRSEKELNHLAVDEASGVVYLGAVNALYQLDAK
  LQLEQQVATGPALDNKKCTPPIEASQCHEAEMTDNVNQLLLLDPPRKRLVECGSLFKGIC
  ALRALSNISLRLFYEDGSGEKSFVASNDEGVATVGLVSSTGPGGDRVLFVGKGNGPHDNG
  IIVSTRLLDRTDSREAFEAYTDHATYKAGYLSTNTQQFVAAFEDGPYVFFVFNQQDKHPA
  RNRTLLARMCREDPNYYSYLEMDLQCRDPDIHAAAFGTCLAASVAAPGSGRVLYAVFSRD
  SRSSGGPGAGLCLFPLDKVHAKMEANRNACYTGTREARDIFYKPFHGDIQCGGHAPGSSK
  SFPCGSEHLPYPLGSRDGLRGTAVLQRGGLNLTAVTVAAENNHTVAFLGTSDGRILKVYL
  TPDGTSSEYDSILVEINKRVKRDLVLSGDLGSLYAMTQDKVFRLPVQECLSYPTCTQCRD
  SQDPYCGWCVVEGRCTRKAECPRAEEASHWLWSRSKSCVAVTSAQPQNMSRRAQGEVQLT
  VSPLPALSEEDELLCLFGESPPHPARVEGEAVICNSPSSIPVTPPGQDHVAVTIQLLLRR
  GNIFLTSYQYPFYDCRQAMSLEENLPCISCVSNRWTCQWDLRYHECREASPNPEDGIVRA
  HMEDSCPQFLGPSPLVIPMNHETDVNFQGKNLDTVKGSSLHVGSDLLKFMEPVTMQESGT
  FAFRTPKLSHDANETLPLHLYVKSYGKNIDSKLHVTLYNCSFGRSDCSLCRAANPDYRCA
  WCGGQSRCVYEALCNTTSECPPPVITRIQPETGPLGGGIRITILGSNLGVQAGDIQRISV
  AGRNCSFQPERYSVSTRIVCVIEAAETPFTGGVEVDVFGKLGRSPPNVQFTFQQPKPLSV
  EPQQGPQAGGTTLTIHGTHLDTGSQEDVRVTLNGVPCKVTKFGAQLQCVTGPQATRGQML
  LEVSYGGSPVPNPGIFFTYRENPVLRAFEPLRSFASGGRSINVTGQGFSLIQRFAMVVIA
  EPLQSWQPPREAESLQPMTVVGTDYVFHNDTKVVFLSPAVPEEPEAYNLTVLIEMDGHRA
  LLRTEAGAFEYVPDPTFENFTGGVKKQVNKLIHARGTNLNKAMTLQEAEAFVGAERCTMK
  TLTETDLYCEPPEVQPPPKRRQKRDTTHNLPEFIVKFGSREWVLGRVEYDTRVSDVPLSL
  ILPLVIVPMVVVIAVSVYCYWRKSQQAEREYEKIKSQLEGLEESVRDRCKKEFTDLMIEM
  EDQTNDVHEAGIPVLDYKTYTDRVFFLPSKDGDKDVMITGKLDIPEPRRPVVEQALYQFS
  NLLNSKSFLINFIHTLENQREFSARAKVYFASLLTVALHGKLEYYTDIMHTLFLELLEQY
  VVAKNPKLMLRRSETVVERMLSNWMSICLYQYLKDSAGEPLYKLFKAIKHQVEKGPVDAV
  QKKAKYTLNDTGLLGDDVEYAPLTVSVIVQDEGVDAIPVKVLNCDTISQVKEKIIDQVYR
  GQPCSCWPRPDSVVLEWRPGSTAQILSDLDLTSQREGRWKRVNTLMHYNVRDGATLILSK
  VGVSQQPEDSQQDLPGERHALLEEENRVWHLVRPTDEVDEGKSKRGSVKEKERTKAITEI
  YLTRLLSVKGTLQQFVDNFFQSVLAPGHAVPPAVKYFFDFLDEQAEKHNIQDEDTIHIWK
  TNSLPLRFWVNILKNPHFIFDVHVHEVVDASLSVIAQTFMDACTRTEHKLSRDSPSNKLL
  YAKEISTYKKMVEDYYKGIRQMVQVSDQDMNTHLAEISRAHTDSLNTLVALHQLYQYTQK
  YYDEIINALEEDPAAQKMQLAFRLQQIAAALENKVTDL

• Sequence length: 1838

Pathways

KEGG:

Axon guidance

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33523907	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32722525	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35335125	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30054097		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33381571	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28927892		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36749929	Stimulate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28927892		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24158112, 25762646	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24158112, 25762646	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30558617, 37272581	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30054097		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27277197, 29100074		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	21310923		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	33381571	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29100074		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30054097		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36749929	Associate	★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	21310923		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28927892		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	36171070	Associate	★☆☆☆☆ Found in Text Mining only