BSN (bassoon presynaptic cytomatrix protein)

Gene

• Entrez ID: 8927
• Gene name: Bassoon presynaptic cytomatrix protein
• Gene symbol: BSN
• Synonyms: 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:0005634	Component	Nucleus	TAS	9806829
GO:0007268	Process	Chemical synaptic transmission	TAS	10329005
GO:0008021	Component	Synaptic vesicle	ISS
GO:0009986	Component	Cell surface	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0030424	Component	Axon	IBA	21873635
GO:0030425	Component	Dendrite	ISS
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0035418	Process	Protein localization to synapse	IBA	21873635
GO:0044306	Component	Neuron projection terminus	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048786	Component	Presynaptic active zone	ISS
GO:0048788	Component	Cytoskeleton of presynaptic active zone	IBA	21873635
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:0060076	Component	Excitatory synapse	ISS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA	21873635
GO:0098978	Component	Glutamatergic synapse	IBA	21873635
GO:0098982	Component	GABA-ergic synapse	IBA	21873635
GO:0099526	Process	Presynapse to nucleus signaling pathway	IEA
GO:1904071	Process	Presynaptic active zone assembly	IBA	21873635

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease name	Disease term	dbSNP ID	References
Ankylosing spondylitis	Ankylosing spondylitis		26974007
Cholangitis	Cholangitis, Sclerosing		26974007
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	17554300, 26974007, 18587394, 17804789, 17554261
Heart diseases	Heart Diseases		16844662
Sclerosing cholangitis	Primary sclerosing cholangitis		23603763
Ulcerative colitis	Ulcerative Colitis		26974007, 19915572