BSN (bassoon presynaptic cytomatrix protein)

Gene

• Entrez ID: 8927
• Gene name: Bassoon presynaptic cytomatrix protein
• Gene symbol: BSN
• Synonyms (NCBI Gene): ZNF231
• Chromosome: 3
• Chromosome location: 3p21.31
• Summary: Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaf

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016702	hsa-miR-335-5p	Microarray	18185580
MIRT019679	hsa-miR-375	Microarray	20215506
MIRT040863	hsa-miR-18a-3p	CLASH	23622248
MIRT054336	mmu-miR-153-3p	Luciferase reporter assay, qRT-PCR, Western blot	23595248
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628411	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT628410	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT660127	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT660126	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT660125	hsa-miR-603	HITS-CLIP	23824327
MIRT660124	hsa-miR-3155a	HITS-CLIP	23824327
MIRT660123	hsa-miR-3155b	HITS-CLIP	23824327
MIRT660122	hsa-miR-484	HITS-CLIP	23824327
MIRT660121	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT660120	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT660119	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT660118	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT660117	hsa-miR-3941	HITS-CLIP	23824327
MIRT660116	hsa-miR-6511b-5p	HITS-CLIP	23824327
MIRT660115	hsa-miR-6811-5p	HITS-CLIP	23824327
MIRT660114	hsa-miR-3912-5p	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628411	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT628410	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	27418678
MIRT628412	hsa-miR-8485	HITS-CLIP	27418678
MIRT628412	hsa-miR-8485	HITS-CLIP	27418678
MIRT628412	hsa-miR-8485	HITS-CLIP	27418678
MIRT628412	hsa-miR-8485	HITS-CLIP	27418678
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628411	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT628410	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT660127	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT660126	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT660125	hsa-miR-603	HITS-CLIP	23824327
MIRT660124	hsa-miR-3155a	HITS-CLIP	23824327
MIRT660123	hsa-miR-3155b	HITS-CLIP	23824327
MIRT660122	hsa-miR-484	HITS-CLIP	23824327
MIRT660121	hsa-miR-4793-5p	HITS-CLIP	23824327
MIRT660120	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT660119	hsa-miR-3944-5p	HITS-CLIP	23824327
MIRT660118	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT660117	hsa-miR-3941	HITS-CLIP	23824327
MIRT660116	hsa-miR-6511b-5p	HITS-CLIP	23824327
MIRT660115	hsa-miR-6811-5p	HITS-CLIP	23824327
MIRT660114	hsa-miR-3912-5p	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628412	hsa-miR-8485	HITS-CLIP	23824327
MIRT628411	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT628410	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT826056	hsa-miR-1178	CLIP-seq
MIRT826057	hsa-miR-1229	CLIP-seq
MIRT826058	hsa-miR-1253	CLIP-seq
MIRT826059	hsa-miR-129-3p	CLIP-seq
MIRT826060	hsa-miR-1321	CLIP-seq
MIRT826061	hsa-miR-135a	CLIP-seq
MIRT826062	hsa-miR-135b	CLIP-seq
MIRT826063	hsa-miR-146b-3p	CLIP-seq
MIRT826064	hsa-miR-1827	CLIP-seq
MIRT826065	hsa-miR-185	CLIP-seq
MIRT826066	hsa-miR-1909	CLIP-seq
MIRT826067	hsa-miR-197	CLIP-seq
MIRT826068	hsa-miR-2278	CLIP-seq
MIRT826069	hsa-miR-2467-3p	CLIP-seq
MIRT826070	hsa-miR-3120-3p	CLIP-seq
MIRT826071	hsa-miR-3125	CLIP-seq
MIRT826072	hsa-miR-3150a-3p	CLIP-seq
MIRT826073	hsa-miR-3150b-3p	CLIP-seq
MIRT826074	hsa-miR-3152-3p	CLIP-seq
MIRT826075	hsa-miR-3152-5p	CLIP-seq
MIRT826076	hsa-miR-3153	CLIP-seq
MIRT826077	hsa-miR-3158-5p	CLIP-seq
MIRT826078	hsa-miR-3173-5p	CLIP-seq
MIRT826079	hsa-miR-3175	CLIP-seq
MIRT826080	hsa-miR-3179	CLIP-seq
MIRT826081	hsa-miR-3183	CLIP-seq
MIRT826082	hsa-miR-3194-3p	CLIP-seq
MIRT826083	hsa-miR-3202	CLIP-seq
MIRT826084	hsa-miR-329	CLIP-seq
MIRT826085	hsa-miR-342-5p	CLIP-seq
MIRT826086	hsa-miR-3607-5p	CLIP-seq
MIRT826087	hsa-miR-3672	CLIP-seq
MIRT826088	hsa-miR-3678-3p	CLIP-seq
MIRT826089	hsa-miR-3692	CLIP-seq
MIRT826090	hsa-miR-3908	CLIP-seq
MIRT826091	hsa-miR-3916	CLIP-seq
MIRT826092	hsa-miR-3935	CLIP-seq
MIRT826093	hsa-miR-4300	CLIP-seq
MIRT826094	hsa-miR-4306	CLIP-seq
MIRT826095	hsa-miR-4419a	CLIP-seq
MIRT826096	hsa-miR-4447	CLIP-seq
MIRT826097	hsa-miR-4468	CLIP-seq
MIRT826098	hsa-miR-4472	CLIP-seq
MIRT826099	hsa-miR-4476	CLIP-seq
MIRT826100	hsa-miR-4496	CLIP-seq
MIRT826101	hsa-miR-4510	CLIP-seq
MIRT826102	hsa-miR-4635	CLIP-seq
MIRT826103	hsa-miR-4643	CLIP-seq
MIRT826104	hsa-miR-4644	CLIP-seq
MIRT826105	hsa-miR-4651	CLIP-seq
MIRT826106	hsa-miR-4664-5p	CLIP-seq
MIRT826107	hsa-miR-4688	CLIP-seq
MIRT826108	hsa-miR-4690-3p	CLIP-seq
MIRT826109	hsa-miR-4716-3p	CLIP-seq
MIRT826110	hsa-miR-4723-3p	CLIP-seq
MIRT826111	hsa-miR-4723-5p	CLIP-seq
MIRT826112	hsa-miR-4728-5p	CLIP-seq
MIRT826113	hsa-miR-4739	CLIP-seq
MIRT826114	hsa-miR-4756-3p	CLIP-seq
MIRT826115	hsa-miR-4756-5p	CLIP-seq
MIRT826116	hsa-miR-4784	CLIP-seq
MIRT826117	hsa-miR-483-5p	CLIP-seq
MIRT826118	hsa-miR-486-3p	CLIP-seq
MIRT826119	hsa-miR-491-5p	CLIP-seq
MIRT826120	hsa-miR-493	CLIP-seq
MIRT826121	hsa-miR-548p	CLIP-seq
MIRT826122	hsa-miR-555	CLIP-seq
MIRT826123	hsa-miR-563	CLIP-seq
MIRT826124	hsa-miR-576-3p	CLIP-seq
MIRT826125	hsa-miR-608	CLIP-seq
MIRT826126	hsa-miR-642a	CLIP-seq
MIRT826127	hsa-miR-760	CLIP-seq
MIRT826128	hsa-miR-765	CLIP-seq
MIRT826129	hsa-miR-767-3p	CLIP-seq
MIRT826130	hsa-miR-874	CLIP-seq
MIRT826131	hsa-miR-920	CLIP-seq
MIRT826132	hsa-miR-939	CLIP-seq
MIRT1944266	hsa-miR-1915	CLIP-seq
MIRT1944267	hsa-miR-214	CLIP-seq
MIRT1944268	hsa-miR-3064-3p	CLIP-seq
MIRT1944269	hsa-miR-3074-3p	CLIP-seq
MIRT826070	hsa-miR-3120-3p	CLIP-seq
MIRT1944270	hsa-miR-3126-5p	CLIP-seq
MIRT1944271	hsa-miR-3155	CLIP-seq
MIRT1944272	hsa-miR-3158-3p	CLIP-seq
MIRT1944273	hsa-miR-3187-3p	CLIP-seq
MIRT1944274	hsa-miR-3200-3p	CLIP-seq
MIRT1944275	hsa-miR-3612	CLIP-seq
MIRT1944276	hsa-miR-3619-5p	CLIP-seq
MIRT1944277	hsa-miR-3679-3p	CLIP-seq
MIRT1944278	hsa-miR-3910	CLIP-seq
MIRT1944279	hsa-miR-4435	CLIP-seq
MIRT1944280	hsa-miR-4446-3p	CLIP-seq
MIRT1944281	hsa-miR-4701-5p	CLIP-seq
MIRT1944282	hsa-miR-4708-3p	CLIP-seq
MIRT826109	hsa-miR-4716-3p	CLIP-seq
MIRT1944283	hsa-miR-4721	CLIP-seq
MIRT826111	hsa-miR-4723-5p	CLIP-seq
MIRT1944284	hsa-miR-4724-3p	CLIP-seq
MIRT826112	hsa-miR-4728-5p	CLIP-seq
MIRT1944285	hsa-miR-4736	CLIP-seq
MIRT1944286	hsa-miR-4789-5p	CLIP-seq
MIRT1944287	hsa-miR-4802-3p	CLIP-seq
MIRT1944288	hsa-miR-548s	CLIP-seq
MIRT1944289	hsa-miR-588	CLIP-seq
MIRT1944290	hsa-miR-650	CLIP-seq
MIRT1944291	hsa-miR-761	CLIP-seq
MIRT1944292	hsa-miR-940	CLIP-seq
MIRT826056	hsa-miR-1178	CLIP-seq
MIRT2182802	hsa-miR-1245b-3p	CLIP-seq
MIRT2182803	hsa-miR-1293	CLIP-seq
MIRT2182804	hsa-miR-149	CLIP-seq
MIRT826066	hsa-miR-1909	CLIP-seq
MIRT826069	hsa-miR-2467-3p	CLIP-seq
MIRT2182805	hsa-miR-25	CLIP-seq
MIRT2182806	hsa-miR-3064-5p	CLIP-seq
MIRT826070	hsa-miR-3120-3p	CLIP-seq
MIRT2182807	hsa-miR-3148	CLIP-seq
MIRT826072	hsa-miR-3150a-3p	CLIP-seq
MIRT826079	hsa-miR-3175	CLIP-seq
MIRT2182808	hsa-miR-32	CLIP-seq
MIRT826085	hsa-miR-342-5p	CLIP-seq
MIRT2182809	hsa-miR-363	CLIP-seq
MIRT2182810	hsa-miR-367	CLIP-seq
MIRT826088	hsa-miR-3678-3p	CLIP-seq
MIRT826093	hsa-miR-4300	CLIP-seq
MIRT2182811	hsa-miR-4316	CLIP-seq
MIRT2182812	hsa-miR-4317	CLIP-seq
MIRT2182813	hsa-miR-4325	CLIP-seq
MIRT2182814	hsa-miR-4434	CLIP-seq
MIRT2182815	hsa-miR-4438	CLIP-seq
MIRT2182816	hsa-miR-4483	CLIP-seq
MIRT2182817	hsa-miR-4516	CLIP-seq
MIRT826105	hsa-miR-4651	CLIP-seq
MIRT826106	hsa-miR-4664-5p	CLIP-seq
MIRT2182818	hsa-miR-4667-5p	CLIP-seq
MIRT2182819	hsa-miR-4678	CLIP-seq
MIRT2182820	hsa-miR-4700-5p	CLIP-seq
MIRT2182821	hsa-miR-4710	CLIP-seq
MIRT826112	hsa-miR-4728-5p	CLIP-seq
MIRT2182822	hsa-miR-4794	CLIP-seq
MIRT826119	hsa-miR-491-5p	CLIP-seq
MIRT2182823	hsa-miR-5095	CLIP-seq
MIRT826125	hsa-miR-608	CLIP-seq
MIRT2182824	hsa-miR-616	CLIP-seq
MIRT2182825	hsa-miR-661	CLIP-seq
MIRT826131	hsa-miR-920	CLIP-seq
MIRT2182826	hsa-miR-92a	CLIP-seq
MIRT2182827	hsa-miR-92b	CLIP-seq
MIRT826132	hsa-miR-939	CLIP-seq
MIRT2384889	hsa-miR-124	CLIP-seq
MIRT2182803	hsa-miR-1293	CLIP-seq
MIRT826066	hsa-miR-1909	CLIP-seq
MIRT826072	hsa-miR-3150a-3p	CLIP-seq
MIRT826079	hsa-miR-3175	CLIP-seq
MIRT826085	hsa-miR-342-5p	CLIP-seq
MIRT826093	hsa-miR-4300	CLIP-seq
MIRT2182811	hsa-miR-4316	CLIP-seq
MIRT826097	hsa-miR-4468	CLIP-seq
MIRT2182816	hsa-miR-4483	CLIP-seq
MIRT826105	hsa-miR-4651	CLIP-seq
MIRT826106	hsa-miR-4664-5p	CLIP-seq
MIRT2182819	hsa-miR-4678	CLIP-seq
MIRT2182821	hsa-miR-4710	CLIP-seq
MIRT826119	hsa-miR-491-5p	CLIP-seq
MIRT2384890	hsa-miR-506	CLIP-seq
MIRT826125	hsa-miR-608	CLIP-seq
MIRT826131	hsa-miR-920	CLIP-seq
MIRT826132	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004857	Function	Enzyme inhibitor activity	ISS
GO:0005634	Component	Nucleus	TAS	9806829
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	10329005
GO:0008021	Component	Synaptic vesicle	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0009986	Component	Cell surface	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035418	Process	Protein localization to synapse	IBA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	ISS
GO:0048788	Component	Cytoskeleton of presynaptic active zone	IBA
GO:0048788	Component	Cytoskeleton of presynaptic active zone	ISS
GO:0048788	Component	Cytoskeleton of presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0060076	Component	Excitatory synapse	ISS
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0098683	Component	Cochlear hair cell ribbon synapse	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:1904071	Process	Presynaptic active zone assembly	IBA

Other IDs

• MIM: 604020
• HGNC: 1117
• e!Ensembl: ENSG00000164061

Protein

• UniProt ID: Q9UPA5
• Protein name: Protein bassoon (Zinc finger protein 231)
• Protein function: Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (PubMed:12812759). After synthesis, participates in the formation of Golgi-derived membranous organelles
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05715	zf-piccolo	168 → 226	Piccolo Zn-finger	Domain
  PF05715	zf-piccolo	463 → 521	Piccolo Zn-finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Exclusively expressed in brain. {ECO:0000269|PubMed:9806829}.
• Sequence:

  MGNEVSLEGGAGDGPLPPGGAGPGPGPGPGPGAGKPPSAPAGGGQLPAAGAARSTAVPPV
  PGPGPGPGPGPGPGSTSRRLDPKEPLGNQRAASPTPKQASATTPGHESPRETRAQGPAGQ
  EADGPRRTLQVDSRTQRSGRSPSVSPDRGSTPTSPYSVPQIAPLPSSTLCPICKTSDLTS
  TPSQPNFNTCTQCHNKVCNQCGFNPNPHLTQVKEWLCLNCQMQRALGMDMTTAPRSKSQQ
  QLHSPALSPAHSPAKQPLGKPDQERSRGPGGPQPGSRQAETARATSVPGPAQAAAPPEVG
  RVSPQPPQPTKPSTAEPRPPAGEAPAKSATAVPAGLGATEQTQEGLTGKLFGLGASLLTQ
  ASTLMSVQPEADTQGQPAPSKGTPKIVFNDASKEAGPKPLGSGPGPGPAPGAKTEPGARM
  GPGSGPGALPKTGGTTSPKHGRAEHQAASKAAAKPKTMPKERAICPLCQAELNVGSKSPA
  NYNTCTTCRLQVCNLCGFNPTPHLVEKTEWLCLNCQTKRLLEGSLGEPTPLPPPTSQQPP
  VGAPHRASGTSPLKQKGPQGLGQPSGPLPAKASPLSTKASPLPSKASPQAKPLRASEPSK
  TPSSVQEKKTRVPTKAEPMPKPPPETTPTPATPKVKSGVRRAEPATPVVKAVPEAPKGGE
  AEDLVGKPYSQDASRSPQSLSDTGYSSDGISSSQSEITGVVQQEVEQLDSAGVTGPHPPS
  PSEIHKVGSSMRPLLQAQGLAPSERSKPLSSGTGEEQKQRPHSLSITPEAFDSDEELEDI
  LEEDEDSAEWRRRREQQDTAESSDDFGSQLRHDYVEDSSEGGLSPLPPQPPARAAELTDE
  DFMRRQILEMSAEEDNLEEDDTATSGRGLAKHGTQKGGPRPRPEPSQEPAALPKRRLPHN
  ATTGYEELLPEGGSAEATDGSGTLQGGLRRFKTIELNSTGSYGHELDLGQGPDPSLDREP
  ELEMESLTGSPEDRSRGEHSSTLPASTPSYTSGTSPTSLSSLEEDSDSSPSRRQRLEEAK
  QQRKARHRSHGPLLPTIEDSSEEEELREEEELLREQEKMREVEQQRIRSTARKTRRDKEE
  LRAQRRRERSKTPPSNLSPIEDASPTEELRQAAEMEELHRSSCSEYSPSPSLDSEAEALD
  GGPSRLYKSGSEYNLPTFMSLYSPTETPSGSSTTPSSGRPLKSAEEAYEEMMRKAELLQR
  QQGQAAGARGPHGGPSQPTGPRGLGSFEYQDTTDREYGQAAQPAAEGTPASLGAAVYEEI
  LQTSQSIVRMRQASSRDLAFAEDKKKEKQFLNAESAYMDPMKQNGGPLTPGTSPTQLAAP
  VSFSTPTSSDSSGGRVIPDVRVTQHFAKETQDPLKLHSSPASPSSASKEIGMPFSQGPGT
  PATTAVAPCPAGLPRGYMTPASPAGSERSPSPSSTAHSYGHSPTTANYGSQTEDLPQAPS
  GLAAAGRAAREKPLSASDGEGGTPQPSRAYSYFASSSPPLSPSSPSESPTFSPGKMGPRA
  TAEFSTQTPSPAPASDMPRSPGAPTPSPMVAQGTQTPHRPSTPRLVWQESSQEAPFMVIT
  LASDASSQTRMVHASASTSPLCSPTETQPTTHGYSQTTPPSVSQLPPEPPGPPGFPRVPS
  AGADGPLALYGWGALPAENISLCRISSVPGTSRVEPGPRTPGTAVVDLRTAVKPTPIILT
  DQGMDLTSLAVEARKYGLALDPIPGRQSTAVQPLVINLNAQEHTFLATATTVSITMASSV
  FMAQQKQPVVYGDPYQSRLDFGQGGGSPVCLAQVKQVEQAVQTAPYRSGPRGRPREAKFA
  RYNLPNQVAPLARRDVLITQMGTAQSIGLKPGPVPEPGAEPHRATPAELRSHALPGARKP
  HTVVVQMGEGTAGTVTTLLPEEPAGALDLTGMRPESQLACCDMVYKLPFGSSCTGTFHPA
  PSVPEKSMADAAPPGQSSSPFYGPRDPEPPEPPTYRAQGVVGPGPHEEQRPYPQGLPGRL
  YSSMSDTNLAEAGLNYHAQRIGQLFQGPGRDSAMDLSSLKHSYSLGFADGRYLGQGLQYG
  SVTDLRHPTDLLAHPLPMRRYSSVSNIYSDHRYGPRGDAVGFQEASLAQYSATTAREISR
  MCAALNSMDQYGGRHGSGGGGPDLVQYQPQHGPGLSAPQSLVPLRPGLLGNPTFPEGHPS
  PGNLAQYGPAAGQGTAVRQLLPSTATVRAADGMIYSTINTPIAATLPITTQPASVLRPMV
  RGGMYRPYASGGITAVPLTSLTRVPMIAPRVPLGPTGLYRYPAPSRFPIASSVPPAEGPV
  YLGKPAAAKAPGAGGPSRPEMPVGAAREEPLPTTTPAAIKEAAGAPAPAPLAGQKPPADA
  APGGGSGALSRPGFEKEEASQEERQRKQQEQLLQLERERVELEKLRQLRLQEELERERVE
  LQRHREEEQLLVQRELQELQTIKHHVLQQQQEERQAQFALQREQLAQQRLQLEQIQQLQQ
  QLQQQLEEQKQRQKAPFPAACEAPGRGPPLAAAELAQNGQYWPPLTHAAFIAMAGPEGLG
  QPREPVLHRGLPSSASDMSLQTEEQWEASRSGIKKRHSMPRLRDACELESGTEPCVVRRI
  ADSSVQTDDEDGESRYLLSRRRRARRSADCSVQTDDEDSAEWEQPVRRRRSRLPRHSDSG
  SDSKHDATASSSSAAATVRAMSSVGIQTISDCSVQTEPDQLPRVSPAIHITAATDPKVEI
  VRYISAPEKTGRGESLACQTEPDGQAQGVAGPQLVGPTAISPYLPGIQIVTPGPLGRFEK
  KKPDPLEIGYQAHLPPESLSQLVSRQPPKSPQVLYSPVSPLSPHRLLDTSFASSERLNKA
  HVSPQKHFTADSALRQQTLPRPMKTLQRSLSDPKPLSPTAEESAKERFSLYQHQGGLGSQ
  VSALPPNSLVRKVKRTLPSPPPEEAHLPLAGQASPQLYAASLLQRGLTGPTTVPATKASL
  LRELDRDLRLVEHESTKLRKKQAELDEEEKEIDAKLKYLELGITQRKESLAKDRGGRDYP
  PLRGLGEHRDYLSDSELNQLRLQGCTTPAGQFVDFPATAAAPATPSGPTAFQQPRFQPPA
  PQYSAGSGGPTQNGFPAHQAPTYPGPSTYPAPAFPPGASYPAEPGLPNQQAFRPTGHYAG
  QTPMPTTQSTLFPVPADSRAPLQKPRQTSLADLEQKVPTNYEVIASPVVPMSSAPSETSY
  SGPAVSSGYEQGKVPEVPRAGDRGSVSQSPAPTYPSDSHYTSLEQNVPRNYVMIDDISEL
  TKDSTSTAPDSQRLEPLGPGSSGRPGKEPGEPGVLDGPTLPCCYARGEEESEEDSYDPRG
  KGGHLRSMESNGRPASTHYYGDSDYRHGARVEKYGPGPMGPKHPSKSLAPAAISSKRSKH
  RKQGMEQKISKFSPIEEAKDVESDLASYPPPAVSSSLVSRGRKFQDEITYGLKKNVYEQQ
  KYYGMSSRDAVEDDRIYGGSSRSRAPSAYSGEKLSSHDFSGWGKGYEREREAVERLQKAG
  PKPSSLSMAHSRVRPPMRSQASEEESPVSPLGRPRPAGGPLPPGGDTCPQFCSSHSMPDV
  QEHVKDGPRAHAYKREEGYILDDSHCVVSDSEAYHLGQEETDWFDKPRDARSDRFRHHGG
  HAVSSSSQKRGPARHSYHDYDEPPEEGLWPHDEGGPGRHASAKEHRHGDHGRHSGRHTGE
  EPGRRAAKPHARDLGRHEARPHSQPSSAPAMPKKGQPGYPSSAEYSQPSRASSAYHHASD
  SKKGSRQAHSGPAALQSKAEPQAQPQLQGRQAAPGPQQSQSPSSRQIPSGAASRQPQTQQ
  QQQGLGLQPPQQALTQARLQQQSQPTTRGSAPAASQPAGKPQPGPSTATGPQPAGPPRAE
  QTNGSKGTAKAPQQGRAPQAQPAPGPGPAGVKAGARPGGTPGAPAGQPGADGESVFSKIL
  PGGAAEQAGKLTEAVSAFGKKFSSFW

• Sequence length: 3926

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
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BSN related epilepsy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BSN-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oromandibular-limb hypogenesis spectrum	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	39302268	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	17554261, 17554300, 17804789, 18587394		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	17554261, 17554300, 26974007		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	19657358		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	37175705	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies Partial	Partial epilepsy	Pubtator	36600631	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36600631	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	36600631	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	16844662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	19657358		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	19657358		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	9806829		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	23603763		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	29339765		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	19567891	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36600631	Associate	★☆☆☆☆ Found in Text Mining only
Seizures Febrile	Seizures	Pubtator	36600631	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	29339765, 35842134	Associate	★☆☆☆☆ Found in Text Mining only
Tourette Syndrome	Tourette syndrome	Pubtator	37208127	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19657358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	19915572, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	19915572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations