PLXNA2 (plexin A2)

Gene

• Entrez ID: 5362
• Gene name: Plexin A2
• Gene symbol: PLXNA2
• Synonyms (NCBI Gene): OCT, PLXN2
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphori

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1553277591	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023176	hsa-miR-124-3p	Microarray	18668037
MIRT030349	hsa-miR-26b-5p	Microarray	19088304
MIRT722530	hsa-miR-4717-3p	HITS-CLIP	19536157
MIRT722529	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT722528	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT722527	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT722526	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT722525	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT722524	hsa-miR-1976	HITS-CLIP	19536157
MIRT722523	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT722522	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT722521	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT722520	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT722519	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT722518	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT535119	hsa-miR-103b	PAR-CLIP	22012620
MIRT535117	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535115	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT535116	hsa-miR-6131	PAR-CLIP	22012620
MIRT535114	hsa-miR-601	PAR-CLIP	22012620
MIRT535113	hsa-miR-7977	PAR-CLIP	22012620
MIRT443379	hsa-miR-5197-3p	PAR-CLIP	22100165
MIRT443378	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT443377	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT443376	hsa-miR-6760-5p	PAR-CLIP	22100165
MIRT443374	hsa-miR-4270	PAR-CLIP	22100165
MIRT443375	hsa-miR-4441	PAR-CLIP	22100165
MIRT443373	hsa-miR-6754-5p	PAR-CLIP	22100165
MIRT443372	hsa-miR-1253	PAR-CLIP	22100165
MIRT443371	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443370	hsa-miR-4434	PAR-CLIP	22100165
MIRT443369	hsa-miR-4516	PAR-CLIP	22100165
MIRT443368	hsa-miR-5703	PAR-CLIP	22100165
MIRT443367	hsa-miR-6878-5p	PAR-CLIP	22100165
MIRT443366	hsa-miR-3202	PAR-CLIP	22100165
MIRT722530	hsa-miR-4717-3p	HITS-CLIP	19536157
MIRT722529	hsa-miR-6892-3p	HITS-CLIP	19536157
MIRT722528	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT722527	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT722526	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT722525	hsa-miR-3653-5p	HITS-CLIP	19536157
MIRT722524	hsa-miR-1976	HITS-CLIP	19536157
MIRT722523	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT722522	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT722521	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT722520	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT722519	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT722518	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT535119	hsa-miR-103b	PAR-CLIP	22012620
MIRT535117	hsa-miR-338-3p	PAR-CLIP	22012620
MIRT535115	hsa-miR-3663-5p	PAR-CLIP	22012620
MIRT535116	hsa-miR-6131	PAR-CLIP	22012620
MIRT535114	hsa-miR-601	PAR-CLIP	22012620
MIRT535113	hsa-miR-7977	PAR-CLIP	22012620
MIRT443379	hsa-miR-5197-3p	PAR-CLIP	22100165
MIRT443378	hsa-miR-6758-5p	PAR-CLIP	22100165
MIRT443377	hsa-miR-6856-5p	PAR-CLIP	22100165
MIRT443376	hsa-miR-6760-5p	PAR-CLIP	22100165
MIRT443374	hsa-miR-4270	PAR-CLIP	22100165
MIRT443375	hsa-miR-4441	PAR-CLIP	22100165
MIRT443373	hsa-miR-6754-5p	PAR-CLIP	22100165
MIRT443372	hsa-miR-1253	PAR-CLIP	22100165
MIRT443371	hsa-miR-5189-3p	PAR-CLIP	22100165
MIRT443370	hsa-miR-4434	PAR-CLIP	22100165
MIRT443369	hsa-miR-4516	PAR-CLIP	22100165
MIRT443368	hsa-miR-5703	PAR-CLIP	22100165
MIRT443367	hsa-miR-6878-5p	PAR-CLIP	22100165
MIRT443366	hsa-miR-3202	PAR-CLIP	22100165
MIRT1243605	hsa-miR-1207-3p	CLIP-seq
MIRT1243606	hsa-miR-1252	CLIP-seq
MIRT1243607	hsa-miR-1254	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT1243611	hsa-miR-1825	CLIP-seq
MIRT1243612	hsa-miR-1827	CLIP-seq
MIRT1243613	hsa-miR-1909	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT1243615	hsa-miR-199a-5p	CLIP-seq
MIRT1243616	hsa-miR-199b-5p	CLIP-seq
MIRT1243617	hsa-miR-204	CLIP-seq
MIRT1243618	hsa-miR-211	CLIP-seq
MIRT1243619	hsa-miR-214	CLIP-seq
MIRT1243620	hsa-miR-2355-3p	CLIP-seq
MIRT1243621	hsa-miR-299-3p	CLIP-seq
MIRT1243622	hsa-miR-3116	CLIP-seq
MIRT1243623	hsa-miR-3159	CLIP-seq
MIRT1243624	hsa-miR-33a	CLIP-seq
MIRT1243625	hsa-miR-33b	CLIP-seq
MIRT1243626	hsa-miR-3611	CLIP-seq
MIRT1243627	hsa-miR-3612	CLIP-seq
MIRT1243628	hsa-miR-3619-5p	CLIP-seq
MIRT1243629	hsa-miR-3689a-3p	CLIP-seq
MIRT1243630	hsa-miR-3689c	CLIP-seq
MIRT1243631	hsa-miR-3690	CLIP-seq
MIRT1243632	hsa-miR-3911	CLIP-seq
MIRT1243633	hsa-miR-3919	CLIP-seq
MIRT1243634	hsa-miR-3928	CLIP-seq
MIRT1243635	hsa-miR-3974	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT1243637	hsa-miR-4267	CLIP-seq
MIRT1243638	hsa-miR-4326	CLIP-seq
MIRT1243639	hsa-miR-4436b-3p	CLIP-seq
MIRT1243640	hsa-miR-4436b-5p	CLIP-seq
MIRT1243641	hsa-miR-4446-5p	CLIP-seq
MIRT1243642	hsa-miR-4473	CLIP-seq
MIRT1243643	hsa-miR-4476	CLIP-seq
MIRT1243644	hsa-miR-4477b	CLIP-seq
MIRT1243645	hsa-miR-4539	CLIP-seq
MIRT1243646	hsa-miR-4638-3p	CLIP-seq
MIRT1243647	hsa-miR-4640-5p	CLIP-seq
MIRT1243648	hsa-miR-4648	CLIP-seq
MIRT1243649	hsa-miR-4654	CLIP-seq
MIRT1243650	hsa-miR-4671-3p	CLIP-seq
MIRT1243651	hsa-miR-4677-3p	CLIP-seq
MIRT1243652	hsa-miR-4679	CLIP-seq
MIRT1243653	hsa-miR-4698	CLIP-seq
MIRT1243654	hsa-miR-4726-5p	CLIP-seq
MIRT1243655	hsa-miR-4728-5p	CLIP-seq
MIRT1243656	hsa-miR-4755-5p	CLIP-seq
MIRT1243657	hsa-miR-4760-3p	CLIP-seq
MIRT1243658	hsa-miR-4769-5p	CLIP-seq
MIRT1243659	hsa-miR-4786-3p	CLIP-seq
MIRT1243660	hsa-miR-4793-5p	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT1243662	hsa-miR-5095	CLIP-seq
MIRT1243663	hsa-miR-541	CLIP-seq
MIRT1243664	hsa-miR-548ag	CLIP-seq
MIRT1243665	hsa-miR-548ai	CLIP-seq
MIRT1243666	hsa-miR-552	CLIP-seq
MIRT1243667	hsa-miR-579	CLIP-seq
MIRT1243668	hsa-miR-623	CLIP-seq
MIRT1243669	hsa-miR-650	CLIP-seq
MIRT1243670	hsa-miR-651	CLIP-seq
MIRT1243671	hsa-miR-653	CLIP-seq
MIRT1243672	hsa-miR-654-5p	CLIP-seq
MIRT1243673	hsa-miR-676	CLIP-seq
MIRT1243674	hsa-miR-761	CLIP-seq
MIRT1243675	hsa-miR-765	CLIP-seq
MIRT2071999	hsa-miR-1273e	CLIP-seq
MIRT2072000	hsa-miR-1297	CLIP-seq
MIRT2072001	hsa-miR-137	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT2072002	hsa-miR-185	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT2072003	hsa-miR-203	CLIP-seq
MIRT2072004	hsa-miR-2355-5p	CLIP-seq
MIRT2072005	hsa-miR-26a	CLIP-seq
MIRT2072006	hsa-miR-26b	CLIP-seq
MIRT2072007	hsa-miR-298	CLIP-seq
MIRT2072008	hsa-miR-3614-5p	CLIP-seq
MIRT2072009	hsa-miR-3679-3p	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT2072010	hsa-miR-4306	CLIP-seq
MIRT2072011	hsa-miR-4327	CLIP-seq
MIRT2072012	hsa-miR-4465	CLIP-seq
MIRT2072013	hsa-miR-4480	CLIP-seq
MIRT2072014	hsa-miR-4644	CLIP-seq
MIRT2072015	hsa-miR-4680-5p	CLIP-seq
MIRT2072016	hsa-miR-4718	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT2299023	hsa-let-7a	CLIP-seq
MIRT2299024	hsa-let-7b	CLIP-seq
MIRT2299025	hsa-let-7c	CLIP-seq
MIRT2299026	hsa-let-7d	CLIP-seq
MIRT2299027	hsa-let-7e	CLIP-seq
MIRT2299028	hsa-let-7f	CLIP-seq
MIRT2299029	hsa-let-7g	CLIP-seq
MIRT2299030	hsa-let-7i	CLIP-seq
MIRT1243605	hsa-miR-1207-3p	CLIP-seq
MIRT2299031	hsa-miR-1233	CLIP-seq
MIRT2299032	hsa-miR-1236	CLIP-seq
MIRT1243606	hsa-miR-1252	CLIP-seq
MIRT1243607	hsa-miR-1254	CLIP-seq
MIRT1243608	hsa-miR-15a	CLIP-seq
MIRT1243609	hsa-miR-15b	CLIP-seq
MIRT1243610	hsa-miR-16	CLIP-seq
MIRT1243611	hsa-miR-1825	CLIP-seq
MIRT1243612	hsa-miR-1827	CLIP-seq
MIRT2072002	hsa-miR-185	CLIP-seq
MIRT2299033	hsa-miR-1915	CLIP-seq
MIRT1243614	hsa-miR-195	CLIP-seq
MIRT1243615	hsa-miR-199a-5p	CLIP-seq
MIRT1243616	hsa-miR-199b-5p	CLIP-seq
MIRT1243619	hsa-miR-214	CLIP-seq
MIRT1243620	hsa-miR-2355-3p	CLIP-seq
MIRT2072004	hsa-miR-2355-5p	CLIP-seq
MIRT2299034	hsa-miR-2392	CLIP-seq
MIRT2072007	hsa-miR-298	CLIP-seq
MIRT2299035	hsa-miR-299-5p	CLIP-seq
MIRT1243622	hsa-miR-3116	CLIP-seq
MIRT2299036	hsa-miR-3173-5p	CLIP-seq
MIRT1243628	hsa-miR-3619-5p	CLIP-seq
MIRT2299037	hsa-miR-3622a-3p	CLIP-seq
MIRT2299038	hsa-miR-3622b-3p	CLIP-seq
MIRT2299039	hsa-miR-3667-3p	CLIP-seq
MIRT2299040	hsa-miR-3678-3p	CLIP-seq
MIRT2072009	hsa-miR-3679-3p	CLIP-seq
MIRT2299041	hsa-miR-3689d	CLIP-seq
MIRT2299042	hsa-miR-370	CLIP-seq
MIRT2299043	hsa-miR-3909	CLIP-seq
MIRT2299044	hsa-miR-3925-3p	CLIP-seq
MIRT2299045	hsa-miR-3978	CLIP-seq
MIRT1243636	hsa-miR-424	CLIP-seq
MIRT2072010	hsa-miR-4306	CLIP-seq
MIRT2299046	hsa-miR-432	CLIP-seq
MIRT2072011	hsa-miR-4327	CLIP-seq
MIRT2299047	hsa-miR-4329	CLIP-seq
MIRT2299048	hsa-miR-4422	CLIP-seq
MIRT1243640	hsa-miR-4436b-5p	CLIP-seq
MIRT2299049	hsa-miR-4443	CLIP-seq
MIRT1243641	hsa-miR-4446-5p	CLIP-seq
MIRT2299050	hsa-miR-4458	CLIP-seq
MIRT2299051	hsa-miR-4500	CLIP-seq
MIRT1243647	hsa-miR-4640-5p	CLIP-seq
MIRT2072014	hsa-miR-4644	CLIP-seq
MIRT2299052	hsa-miR-4699-3p	CLIP-seq
MIRT1243654	hsa-miR-4726-5p	CLIP-seq
MIRT2299053	hsa-miR-4773	CLIP-seq
MIRT1243661	hsa-miR-497	CLIP-seq
MIRT2299054	hsa-miR-508-5p	CLIP-seq
MIRT2299055	hsa-miR-512-3p	CLIP-seq
MIRT2299056	hsa-miR-550a	CLIP-seq
MIRT2299057	hsa-miR-564	CLIP-seq
MIRT2299058	hsa-miR-615-5p	CLIP-seq
MIRT2299059	hsa-miR-661	CLIP-seq
MIRT1243673	hsa-miR-676	CLIP-seq
MIRT1243674	hsa-miR-761	CLIP-seq
MIRT2299060	hsa-miR-890	CLIP-seq
MIRT2299061	hsa-miR-922	CLIP-seq
MIRT2299062	hsa-miR-98	CLIP-seq
MIRT2299032	hsa-miR-1236	CLIP-seq
MIRT2299033	hsa-miR-1915	CLIP-seq
MIRT2392713	hsa-miR-3064-5p	CLIP-seq
MIRT2072008	hsa-miR-3614-5p	CLIP-seq
MIRT2392714	hsa-miR-423-3p	CLIP-seq
MIRT2299048	hsa-miR-4422	CLIP-seq
MIRT2299049	hsa-miR-4443	CLIP-seq
MIRT2392715	hsa-miR-4487	CLIP-seq
MIRT2392716	hsa-miR-4633-3p	CLIP-seq
MIRT2392717	hsa-miR-4726-3p	CLIP-seq
MIRT2392718	hsa-miR-604	CLIP-seq
MIRT2392719	hsa-miR-642a	CLIP-seq
MIRT2392720	hsa-miR-647	CLIP-seq
MIRT2299060	hsa-miR-890	CLIP-seq
MIRT2595949	hsa-miR-4713-5p	CLIP-seq
MIRT2595950	hsa-miR-548b-3p	CLIP-seq
MIRT2595949	hsa-miR-4713-5p	CLIP-seq
MIRT2595950	hsa-miR-548b-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001756	Process	Somitogenesis	IEA
GO:0002116	Component	Semaphorin receptor complex	IBA
GO:0002116	Component	Semaphorin receptor complex	TAS	19909241
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	12372285
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007416	Process	Synapse assembly	IBA
GO:0009653	Process	Anatomical structure morphogenesis	IEA
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:0021915	Process	Neural tube development	IEA
GO:0021935	Process	Cerebellar granule cell precursor tangential migration	IEA
GO:0030334	Process	Regulation of cell migration	IBA
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030334	Process	Regulation of cell migration	ISS
GO:0035295	Process	Tube development	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0051642	Process	Centrosome localization	IEA
GO:0060037	Process	Pharyngeal system development	IEA
GO:0060174	Process	Limb bud formation	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IBA
GO:0071526	Process	Semaphorin-plexin signaling pathway	IEA
GO:0071526	Process	Semaphorin-plexin signaling pathway	ISS

Other IDs

• MIM: 601054
• HGNC: 9100
• e!Ensembl: ENSG00000076356

Protein

• UniProt ID: O75051
• Protein name: Plexin-A2 (Semaphorin receptor OCT)
• Protein function: Coreceptor for SEMA3A and SEMA6A. Necessary for signaling by SEMA6A and class 3 semaphorins and subsequent remodeling of the cytoskeleton. Plays a role in axon guidance, invasive growth and cell migration. Class 3 semaphorins bind to a complex c
• PDB: 3Q3J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01403	Sema	52 → 489	Sema domain	Family
  PF01437	PSI	510 → 560	Plexin repeat	Family
  PF17960	TIG_plexin	565 → 654	TIG domain	Domain
  PF18020	TIG_2	708 → 802	TIG domain found in plexin	Domain
  PF01437	PSI	803 → 856	Plexin repeat	Family
  PF01833	TIG	858 → 951	IPT/TIG domain	Domain
  PF01833	TIG	954 → 1037	IPT/TIG domain	Domain
  PF01833	TIG	1041 → 1139	IPT/TIG domain	Domain
  PF01833	TIG	1143 → 1228	IPT/TIG domain	Domain
  PF08337	Plexin_cytopl	1311 → 1864	Plexin cytoplasmic RasGAP domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal brain. {ECO:0000269|PubMed:8570614}.
• Sequence:

  MEQRRPWPRALEVDSRSVVLLSVVWVLLAPPAAGMPQFSTFHSENRDWTFNHLTVHQGTG
  AVYVGAINRVYKLTGNLTIQVAHKTGPEEDNKSCYPPLIVQPCSEVLTLTNNVNKLLIID
  YSENRLLACGSLYQGVCKLLRLDDLFILVEPSHKKEHYLSSVNKTGTMYGVIVRSEGEDG
  KLFIGTAVDGKQDYFPTLSSRKLPRDPESSAMLDYELHSDFVSSLIKIPSDTLALVSHFD
  IFYIYGFASGGFVYFLTVQPETPEGVAINSAGDLFYTSRIVRLCKDDPKFHSYVSLPFGC
  TRAGVEYRLLQAAYLAKPGDSLAQAFNITSQDDVLFAIFSKGQKQYHHPPDDSALCAFPI
  RAINLQIKERLQSCYQGEGNLELNWLLGKDVQCTKAPVPIDDNFCGLDINQPLGGSTPVE
  GLTLYTTSRDRMTSVASYVYNGYSVVFVGTKSGKLKKIRADGPPHGGVQYEMVSVLKDGS
  PILRDMAFSIDQRYLYVMSERQVTRVPVESCEQYTTCGECLSSGDPHCGWCALHNMCSRR
  DKCQQAWEPNRFAASISQCVSLAVHPSSISVSEHSRLLSLVVSDAPDLSAGIACAFGNLT
  EVEGQVSGSQVICISPGPKDVPVIPLDQDWFGLELQLRSKETGKIFVSTEFKFYNCSAHQ
  LCLSCVNSAFRCHWCKYRNLCTHDPTTCSFQEGRINISEDCPQLVPTEEILIPVGEVKPI
  TLKARNLPQPQSGQRGYECVLNIQGAIHRVPALRFNSSSVQCQNSSYQYDGMDISNLAVD
  FAVVWNGNFIIDNPQDLKVHLYKCAAQRESCGLCLKADRKFECGWCSGERRCTLHQHCTS
  PSSPWLDWSSHNVKCSNPQITEILTVSGPPEGGTRVTIHGVNLGLDFSEIAHHVQVAGVP
  CTPLPGEYIIAEQIVCEMGHALVGTTSGPVRLCIGECKPEFMTKSHQQYTFVNPSVLSLN
  PIRGPESGGTMVTITGHYLGAGSSVAVYLGNQTCEFYGRSMSEIVCVSPPSSNGLGPVPV
  SVSVDRAHVDSNLQFEYIDDPRVQRIEPEWSIASGHTPLTITGFNLDVIQEPRIRVKFNG
  KESVNVCKVVNTTTLTCLAPSLTTDYRPGLDTVERPDEFGFVFNNVQSLLIYNDTKFIYY
  PNPTFELLSPTGVLDQKPGSPIILKGKNLCPPASGGAKLNYTVLIGETPCAVTVSETQLL
  CEPPNLTGQHKVMVHVGGMVFSPGSVSVISDSLLTLPAIVSIAAGGSLLLIIVIIVLIAY
  KRKSRENDLTLKRLQMQMDNLESRVALECKEAFAELQTDINELTSDLDRSGIPYLDYRTY
  AMRVLFPGIEDHPVLRELEVQGNGQQHVEKALKLFAQLINNKVFLLTFIRTLELQRSFSM
  RDRGNVASLIMTGLQGRLEYATDVLKQLLSDLIDKNLENKNHPKLLLRRTESVAEKMLTN
  WFAFLLHKFLKECAGEPLFMLYCAIKQQMEKGPIDAITGEARYSLSEDKLIRQQIEYKTL
  ILNCVNPDNENSPEIPVKVLNCDTITQVKEKILDAVYKNVPYSQRPRAVDMDLEWRQGRI
  ARVVLQDEDITTKIEGDWKRLNTLMHYQVSDRSVVALVPKQTSSYNIPASASISRTSISR
  YDSSFRYTGSPDSLRSRAPMITPDLESGVKVWHLVKNHDHGDQKEGDRGSKMVSEIYLTR
  LLATKGTLQKFVDDLFETLFSTVHRGSALPLAIKYMFDFLDEQADRHSIHDTDVRHTWKS
  NCLPLRFWVNVIKNPQFVFDIHKGSITDACLSVVAQTFMDSCSTSEHRLGKDSPSNKLLY
  AKDIPSYKSWVERYYADIAKLPAISDQDMNAYLAEQSRLHAVEFNMLSALNEIYSYVSKY
  SEELIGALEQDEQARRQRLAYKVEQLINAMSIES

• Sequence length: 1894

Pathways

KEGG:

Axon guidance

Reactome:

Sema3A PAK dependent Axon repulsion
SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
CRMPs in Sema3A signaling

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
atypical cerebral palsy	Likely pathogenic	rs1553277591	RCV000655966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIRRHOSIS OF LIVER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLXNA2-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alstrom Syndrome	Associate	28112973	★☆☆☆☆ Found in Text Mining only
Beckwith Wiedemann Syndrome	Associate	21863054	★☆☆☆☆ Found in Text Mining only
Bietti Crystalline Dystrophy	Associate	35791149	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Associate	12841847	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	36658114	★☆☆☆☆ Found in Text Mining only
Leukemia	Associate	12384147	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Associate	27099955	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36658114	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	39743445	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal Diseases	Associate	27099955	★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Associate	35295047	★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Associate	22912587	★☆☆☆☆ Found in Text Mining only
Weight Loss	Associate	39743445	★☆☆☆☆ Found in Text Mining only