UNC13B (unc-13 homolog B)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 10497
• Gene name: Unc-13 homolog B
• Gene symbol: UNC13B
• Synonyms (NCBI Gene): MUNC13, UNC13, Unc13h2, munc13-2
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: This gene is expressed in the kidney cortical epithelial cells and is upregulated by hyperglycemia. The encoded protein shares a high level of similarity to the rat homolog, and contains 3 C2 domains and a diacylglycerol-binding C1 domain. Hyperglycemia i

miRNA Show/Hide all (284)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019776	hsa-miR-375	Microarray	20215506
MIRT052137	hsa-let-7b-5p	CLASH	23622248
MIRT049246	hsa-miR-92a-3p	CLASH	23622248
MIRT046959	hsa-miR-221-3p	CLASH	23622248
MIRT1475320	hsa-miR-183	CLIP-seq
MIRT1475321	hsa-miR-194	CLIP-seq
MIRT1475322	hsa-miR-1976	CLIP-seq
MIRT1475323	hsa-miR-216a	CLIP-seq
MIRT1475324	hsa-miR-216b	CLIP-seq
MIRT1475325	hsa-miR-3120-3p	CLIP-seq
MIRT1475326	hsa-miR-3138	CLIP-seq
MIRT1475327	hsa-miR-3664-3p	CLIP-seq
MIRT1475328	hsa-miR-369-3p	CLIP-seq
MIRT1475329	hsa-miR-374a	CLIP-seq
MIRT1475330	hsa-miR-374b	CLIP-seq
MIRT1475331	hsa-miR-380	CLIP-seq
MIRT1475332	hsa-miR-4435	CLIP-seq
MIRT1475333	hsa-miR-4712-5p	CLIP-seq
MIRT1475334	hsa-miR-4800-5p	CLIP-seq
MIRT1475335	hsa-miR-486-5p	CLIP-seq
MIRT1475336	hsa-miR-545	CLIP-seq
MIRT1475337	hsa-miR-556-3p	CLIP-seq
MIRT1475338	hsa-miR-578	CLIP-seq
MIRT1475339	hsa-miR-770-5p	CLIP-seq
MIRT1475340	hsa-miR-873	CLIP-seq
MIRT2143197	hsa-miR-1264	CLIP-seq
MIRT2143198	hsa-miR-146b-3p	CLIP-seq
MIRT2143199	hsa-miR-1915	CLIP-seq
MIRT1475322	hsa-miR-1976	CLIP-seq
MIRT1475324	hsa-miR-216b	CLIP-seq
MIRT2143200	hsa-miR-3145-5p	CLIP-seq
MIRT2143201	hsa-miR-3158-3p	CLIP-seq
MIRT2143202	hsa-miR-3173-5p	CLIP-seq
MIRT2143203	hsa-miR-3177-5p	CLIP-seq
MIRT2143204	hsa-miR-3187-3p	CLIP-seq
MIRT2143205	hsa-miR-3681	CLIP-seq
MIRT2143206	hsa-miR-3688-3p	CLIP-seq
MIRT2143207	hsa-miR-3911	CLIP-seq
MIRT2143208	hsa-miR-433	CLIP-seq
MIRT2143209	hsa-miR-4529-5p	CLIP-seq
MIRT2143210	hsa-miR-4652-3p	CLIP-seq
MIRT2143211	hsa-miR-4666-3p	CLIP-seq
MIRT2143212	hsa-miR-4677-3p	CLIP-seq
MIRT2143213	hsa-miR-4679	CLIP-seq
MIRT2143214	hsa-miR-4722-3p	CLIP-seq
MIRT2143215	hsa-miR-4725-5p	CLIP-seq
MIRT2143216	hsa-miR-4726-3p	CLIP-seq
MIRT2143217	hsa-miR-4778-5p	CLIP-seq
MIRT2143218	hsa-miR-504	CLIP-seq
MIRT2143219	hsa-miR-508-5p	CLIP-seq
MIRT2143220	hsa-miR-595	CLIP-seq
MIRT2143221	hsa-miR-874	CLIP-seq
MIRT2143222	hsa-miR-942	CLIP-seq
MIRT2363450	hsa-miR-1207-5p	CLIP-seq
MIRT2143197	hsa-miR-1264	CLIP-seq
MIRT2363451	hsa-miR-1266	CLIP-seq
MIRT2363452	hsa-miR-127-5p	CLIP-seq
MIRT2363453	hsa-miR-140-3p	CLIP-seq
MIRT2363454	hsa-miR-1827	CLIP-seq
MIRT1475320	hsa-miR-183	CLIP-seq
MIRT2363455	hsa-miR-1910	CLIP-seq
MIRT2143199	hsa-miR-1915	CLIP-seq
MIRT1475321	hsa-miR-194	CLIP-seq
MIRT1475322	hsa-miR-1976	CLIP-seq
MIRT2363456	hsa-miR-2110	CLIP-seq
MIRT1475323	hsa-miR-216a	CLIP-seq
MIRT1475324	hsa-miR-216b	CLIP-seq
MIRT2363457	hsa-miR-296-5p	CLIP-seq
MIRT2363458	hsa-miR-29a	CLIP-seq
MIRT2363459	hsa-miR-29b	CLIP-seq
MIRT2363460	hsa-miR-29c	CLIP-seq
MIRT2363461	hsa-miR-3065-5p	CLIP-seq
MIRT2363462	hsa-miR-3125	CLIP-seq
MIRT2363463	hsa-miR-3127-3p	CLIP-seq
MIRT2363464	hsa-miR-3127-5p	CLIP-seq
MIRT2363465	hsa-miR-3135	CLIP-seq
MIRT2363466	hsa-miR-3136-5p	CLIP-seq
MIRT2143200	hsa-miR-3145-5p	CLIP-seq
MIRT2363467	hsa-miR-3147	CLIP-seq
MIRT2363468	hsa-miR-3153	CLIP-seq
MIRT2143201	hsa-miR-3158-3p	CLIP-seq
MIRT2363469	hsa-miR-3179	CLIP-seq
MIRT2143204	hsa-miR-3187-3p	CLIP-seq
MIRT1475327	hsa-miR-3664-3p	CLIP-seq
MIRT2363470	hsa-miR-3665	CLIP-seq
MIRT2363471	hsa-miR-3667-5p	CLIP-seq
MIRT2363472	hsa-miR-371-3p	CLIP-seq
MIRT2363473	hsa-miR-371b-3p	CLIP-seq
MIRT2143207	hsa-miR-3911	CLIP-seq
MIRT2363474	hsa-miR-3916	CLIP-seq
MIRT2363475	hsa-miR-3918	CLIP-seq
MIRT2363476	hsa-miR-3936	CLIP-seq
MIRT2363477	hsa-miR-3941	CLIP-seq
MIRT2363478	hsa-miR-4256	CLIP-seq
MIRT2363479	hsa-miR-4270	CLIP-seq
MIRT2363480	hsa-miR-4271	CLIP-seq
MIRT2363481	hsa-miR-4316	CLIP-seq
MIRT2143208	hsa-miR-433	CLIP-seq
MIRT2363482	hsa-miR-4425	CLIP-seq
MIRT2363483	hsa-miR-4439	CLIP-seq
MIRT2363484	hsa-miR-4441	CLIP-seq
MIRT2363485	hsa-miR-4459	CLIP-seq
MIRT2363486	hsa-miR-4514	CLIP-seq
MIRT2363487	hsa-miR-4518	CLIP-seq
MIRT2143209	hsa-miR-4529-5p	CLIP-seq
MIRT2363488	hsa-miR-4640-5p	CLIP-seq
MIRT2363489	hsa-miR-4645-5p	CLIP-seq
MIRT2363490	hsa-miR-466	CLIP-seq
MIRT2143211	hsa-miR-4666-3p	CLIP-seq
MIRT2363491	hsa-miR-4667-5p	CLIP-seq
MIRT2363492	hsa-miR-4672	CLIP-seq
MIRT2363493	hsa-miR-4673	CLIP-seq
MIRT2363494	hsa-miR-4685-5p	CLIP-seq
MIRT2363495	hsa-miR-4692	CLIP-seq
MIRT2363496	hsa-miR-4695-5p	CLIP-seq
MIRT2363497	hsa-miR-4700-5p	CLIP-seq
MIRT2363498	hsa-miR-4712-3p	CLIP-seq
MIRT2363499	hsa-miR-4725-3p	CLIP-seq
MIRT2143216	hsa-miR-4726-3p	CLIP-seq
MIRT2363500	hsa-miR-4726-5p	CLIP-seq
MIRT2363501	hsa-miR-4736	CLIP-seq
MIRT2363502	hsa-miR-4747-5p	CLIP-seq
MIRT2363503	hsa-miR-4763-3p	CLIP-seq
MIRT2363504	hsa-miR-4777-5p	CLIP-seq
MIRT2363505	hsa-miR-4797-5p	CLIP-seq
MIRT2363506	hsa-miR-4799-5p	CLIP-seq
MIRT1475335	hsa-miR-486-5p	CLIP-seq
MIRT2143219	hsa-miR-508-5p	CLIP-seq
MIRT2363507	hsa-miR-515-3p	CLIP-seq
MIRT2363508	hsa-miR-518a-5p	CLIP-seq
MIRT2363509	hsa-miR-518d-5p	CLIP-seq
MIRT2363510	hsa-miR-519b-5p	CLIP-seq
MIRT2363511	hsa-miR-519c-5p	CLIP-seq
MIRT2363512	hsa-miR-519e	CLIP-seq
MIRT2363513	hsa-miR-520c-5p	CLIP-seq
MIRT2363514	hsa-miR-526a	CLIP-seq
MIRT2363515	hsa-miR-527	CLIP-seq
MIRT2363516	hsa-miR-548p	CLIP-seq
MIRT2363517	hsa-miR-582-5p	CLIP-seq
MIRT2143220	hsa-miR-595	CLIP-seq
MIRT2363518	hsa-miR-635	CLIP-seq
MIRT2363519	hsa-miR-637	CLIP-seq
MIRT2363520	hsa-miR-663b	CLIP-seq
MIRT2363521	hsa-miR-665	CLIP-seq
MIRT1475340	hsa-miR-873	CLIP-seq
MIRT2363522	hsa-miR-877	CLIP-seq
MIRT2363523	hsa-miR-940	CLIP-seq
MIRT2363524	hsa-miR-943	CLIP-seq
MIRT2396679	hsa-miR-1237	CLIP-seq
MIRT2396680	hsa-miR-1248	CLIP-seq
MIRT2396681	hsa-miR-1912	CLIP-seq
MIRT2396682	hsa-miR-3130-5p	CLIP-seq
MIRT2396683	hsa-miR-3155	CLIP-seq
MIRT2396684	hsa-miR-3155b	CLIP-seq
MIRT2396685	hsa-miR-4482	CLIP-seq
MIRT2363489	hsa-miR-4645-5p	CLIP-seq
MIRT2363493	hsa-miR-4673	CLIP-seq
MIRT2396686	hsa-miR-484	CLIP-seq
MIRT2396679	hsa-miR-1237	CLIP-seq
MIRT2396680	hsa-miR-1248	CLIP-seq
MIRT2657190	hsa-miR-136	CLIP-seq
MIRT2363453	hsa-miR-140-3p	CLIP-seq
MIRT2363455	hsa-miR-1910	CLIP-seq
MIRT2143199	hsa-miR-1915	CLIP-seq
MIRT2363456	hsa-miR-2110	CLIP-seq
MIRT1475324	hsa-miR-216b	CLIP-seq
MIRT2657191	hsa-miR-2355-3p	CLIP-seq
MIRT2657192	hsa-miR-296-3p	CLIP-seq
MIRT2363457	hsa-miR-296-5p	CLIP-seq
MIRT2657193	hsa-miR-3074-3p	CLIP-seq
MIRT2657194	hsa-miR-3117-5p	CLIP-seq
MIRT2363463	hsa-miR-3127-3p	CLIP-seq
MIRT2363467	hsa-miR-3147	CLIP-seq
MIRT2657195	hsa-miR-3148	CLIP-seq
MIRT2363468	hsa-miR-3153	CLIP-seq
MIRT2396683	hsa-miR-3155	CLIP-seq
MIRT2396684	hsa-miR-3155b	CLIP-seq
MIRT2657196	hsa-miR-361-5p	CLIP-seq
MIRT2143206	hsa-miR-3688-3p	CLIP-seq
MIRT2657197	hsa-miR-383	CLIP-seq
MIRT2143207	hsa-miR-3911	CLIP-seq
MIRT2657198	hsa-miR-3921	CLIP-seq
MIRT2363478	hsa-miR-4256	CLIP-seq
MIRT2657199	hsa-miR-4257	CLIP-seq
MIRT2363480	hsa-miR-4271	CLIP-seq
MIRT2657200	hsa-miR-4328	CLIP-seq
MIRT2657201	hsa-miR-4330	CLIP-seq
MIRT2363482	hsa-miR-4425	CLIP-seq
MIRT2657202	hsa-miR-4448	CLIP-seq
MIRT2657203	hsa-miR-4536	CLIP-seq
MIRT2657204	hsa-miR-4639-3p	CLIP-seq
MIRT2363489	hsa-miR-4645-5p	CLIP-seq
MIRT2657205	hsa-miR-4646-3p	CLIP-seq
MIRT2657206	hsa-miR-4653-5p	CLIP-seq
MIRT2143211	hsa-miR-4666-3p	CLIP-seq
MIRT2363491	hsa-miR-4667-5p	CLIP-seq
MIRT2657207	hsa-miR-4670-3p	CLIP-seq
MIRT2363493	hsa-miR-4673	CLIP-seq
MIRT2363497	hsa-miR-4700-5p	CLIP-seq
MIRT2657208	hsa-miR-4716-5p	CLIP-seq
MIRT2363499	hsa-miR-4725-3p	CLIP-seq
MIRT2143216	hsa-miR-4726-3p	CLIP-seq
MIRT2657209	hsa-miR-4768-5p	CLIP-seq
MIRT2363504	hsa-miR-4777-5p	CLIP-seq
MIRT2363505	hsa-miR-4797-5p	CLIP-seq
MIRT2396686	hsa-miR-484	CLIP-seq
MIRT1475335	hsa-miR-486-5p	CLIP-seq
MIRT2657210	hsa-miR-494	CLIP-seq
MIRT2363509	hsa-miR-518d-5p	CLIP-seq
MIRT2363510	hsa-miR-519b-5p	CLIP-seq
MIRT2363511	hsa-miR-519c-5p	CLIP-seq
MIRT2363513	hsa-miR-520c-5p	CLIP-seq
MIRT2363514	hsa-miR-526a	CLIP-seq
MIRT2657211	hsa-miR-579	CLIP-seq
MIRT2363517	hsa-miR-582-5p	CLIP-seq
MIRT2657212	hsa-miR-593	CLIP-seq
MIRT2143220	hsa-miR-595	CLIP-seq
MIRT2363519	hsa-miR-637	CLIP-seq
MIRT2657213	hsa-miR-676	CLIP-seq
MIRT2657214	hsa-miR-759	CLIP-seq
MIRT2143222	hsa-miR-942	CLIP-seq
MIRT2694757	hsa-miR-1229	CLIP-seq
MIRT2396679	hsa-miR-1237	CLIP-seq
MIRT2396680	hsa-miR-1248	CLIP-seq
MIRT2657190	hsa-miR-136	CLIP-seq
MIRT2143199	hsa-miR-1915	CLIP-seq
MIRT2363456	hsa-miR-2110	CLIP-seq
MIRT2694758	hsa-miR-2117	CLIP-seq
MIRT1475324	hsa-miR-216b	CLIP-seq
MIRT2657191	hsa-miR-2355-3p	CLIP-seq
MIRT2657192	hsa-miR-296-3p	CLIP-seq
MIRT2363457	hsa-miR-296-5p	CLIP-seq
MIRT2657194	hsa-miR-3117-5p	CLIP-seq
MIRT2363463	hsa-miR-3127-3p	CLIP-seq
MIRT2657195	hsa-miR-3148	CLIP-seq
MIRT2363468	hsa-miR-3153	CLIP-seq
MIRT2396683	hsa-miR-3155	CLIP-seq
MIRT2396684	hsa-miR-3155b	CLIP-seq
MIRT2694759	hsa-miR-330-3p	CLIP-seq
MIRT2143206	hsa-miR-3688-3p	CLIP-seq
MIRT2657197	hsa-miR-383	CLIP-seq
MIRT2143207	hsa-miR-3911	CLIP-seq
MIRT2657198	hsa-miR-3921	CLIP-seq
MIRT2363478	hsa-miR-4256	CLIP-seq
MIRT2363480	hsa-miR-4271	CLIP-seq
MIRT2694760	hsa-miR-4273	CLIP-seq
MIRT2694761	hsa-miR-4312	CLIP-seq
MIRT2657200	hsa-miR-4328	CLIP-seq
MIRT2657201	hsa-miR-4330	CLIP-seq
MIRT2657202	hsa-miR-4448	CLIP-seq
MIRT2657203	hsa-miR-4536	CLIP-seq
MIRT2657204	hsa-miR-4639-3p	CLIP-seq
MIRT2363489	hsa-miR-4645-5p	CLIP-seq
MIRT2657205	hsa-miR-4646-3p	CLIP-seq
MIRT2657206	hsa-miR-4653-5p	CLIP-seq
MIRT2143211	hsa-miR-4666-3p	CLIP-seq
MIRT2363491	hsa-miR-4667-5p	CLIP-seq
MIRT2657207	hsa-miR-4670-3p	CLIP-seq
MIRT2363493	hsa-miR-4673	CLIP-seq
MIRT2694762	hsa-miR-4677-5p	CLIP-seq
MIRT2363497	hsa-miR-4700-5p	CLIP-seq
MIRT2657208	hsa-miR-4716-5p	CLIP-seq
MIRT2363499	hsa-miR-4725-3p	CLIP-seq
MIRT2143216	hsa-miR-4726-3p	CLIP-seq
MIRT2657209	hsa-miR-4768-5p	CLIP-seq
MIRT2363504	hsa-miR-4777-5p	CLIP-seq
MIRT2363505	hsa-miR-4797-5p	CLIP-seq
MIRT2396686	hsa-miR-484	CLIP-seq
MIRT1475335	hsa-miR-486-5p	CLIP-seq
MIRT2657210	hsa-miR-494	CLIP-seq
MIRT2363509	hsa-miR-518d-5p	CLIP-seq
MIRT2363510	hsa-miR-519b-5p	CLIP-seq
MIRT2363511	hsa-miR-519c-5p	CLIP-seq
MIRT2363513	hsa-miR-520c-5p	CLIP-seq
MIRT2363514	hsa-miR-526a	CLIP-seq
MIRT2657211	hsa-miR-579	CLIP-seq
MIRT2363517	hsa-miR-582-5p	CLIP-seq
MIRT2657212	hsa-miR-593	CLIP-seq
MIRT2143220	hsa-miR-595	CLIP-seq
MIRT2694763	hsa-miR-607	CLIP-seq
MIRT2363519	hsa-miR-637	CLIP-seq
MIRT2657213	hsa-miR-676	CLIP-seq
MIRT2657214	hsa-miR-759	CLIP-seq
MIRT2143222	hsa-miR-942	CLIP-seq

Gene ontology (GO) Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16138900, 33961781
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	ISS
GO:0005543	Function	Phospholipid binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA	10233166, 16138900
GO:0005829	Component	Cytosol	IDA	10233166, 16138900
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006887	Process	Exocytosis	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010808	Process	Positive regulation of synaptic vesicle priming	ISS
GO:0016020	Component	Membrane	IDA	9607201
GO:0016020	Component	Membrane	IEA
GO:0016081	Process	Synaptic vesicle docking	IBA
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0016082	Process	Synaptic vesicle priming	ISS
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0019992	Function	Diacylglycerol binding	IEA
GO:0019992	Function	Diacylglycerol binding	NAS	10233166, 16138900
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030742	Function	GTP-dependent protein binding	IPI	16138900
GO:0031267	Function	Small GTPase binding	NAS	19641095
GO:0031594	Component	Neuromuscular junction	IBA
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0043065	Process	Positive regulation of apoptotic process	IDA	10233166
GO:0043195	Component	Terminal bouton	IBA
GO:0043195	Component	Terminal bouton	ISS
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	TAS	15217342
GO:0050714	Process	Positive regulation of protein secretion	IDA	19641095
GO:0060478	Process	Acrosomal vesicle exocytosis	IDA	22248876
GO:0061789	Process	Dense core granule priming	IBA
GO:0071333	Process	Cellular response to glucose stimulus	IDA	19641095
GO:0097151	Process	Positive regulation of inhibitory postsynaptic potential	ISS
GO:0099011	Process	Neuronal dense core vesicle exocytosis	ISS

Other IDs

• MIM: 605836
• HGNC: 12566
• e!Ensembl: ENSG00000198722

Protein

• UniProt ID: O14795
• Protein name: Protein unc-13 homolog B (Munc13-2) (munc13)
• Protein function: Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Is involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activi
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00130	C1_1	478 → 530	Phorbol esters/diacylglycerol binding domain (C1 domain)	Domain
  PF00168	C2	600 → 709	C2 domain	Domain
  PF00168	C2	1438 → 1548	C2 domain	Domain
  PF00168	C2	2 → 99	C2 domain	Domain
  PF06292	DUF1041	918 → 1022	Domain of Unknown Function (DUF1041)	Domain
  PF10540	Membr_traf_MHD	1264 → 1404	Munc13 (mammalian uncoordinated) homology domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney cortical epithelial cells and brain. {ECO:0000269|PubMed:9607201}.
• Sequence:

  MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGL
  SVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHK
  ILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDP
  DSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
  QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSH
  SLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESF
  PEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
  RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNF
  EVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQRAAEKSCKHGA
  EDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSA
  KITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
  RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSG
  AIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDE
  TAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTN
  VSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
  TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGP
  SIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALE
  EHEKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVS
  LEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRR
  FAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEA
  ADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQ
  DADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQ
  LIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEK
  SPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKV
  TVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLG
  NEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLT
  ILRILSQRSNDEVAREFVKLKSESRSTEEGS

• Sequence length: 1591

Pathways

KEGG Pathway	Reactome Pathway
Synaptic vesicle cycle	Serotonin Neurotransmitter Release Cycle
	Norepinephrine Neurotransmitter Release Cycle
	Glutamate Neurotransmitter Release Cycle
	Dopamine Neurotransmitter Release Cycle
	Acetylcholine Neurotransmitter Release Cycle

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	Reference	Evidence Score
Colon adenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	40465716	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	21812969	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNC13B-related seizure disorder	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (17)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	31680867		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23698091		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23698091		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30117296	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29928766		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18633107		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31713534		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	20687937, 31713534	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31713534		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10233166, 18633107		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	18633107		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	18633107		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29928766		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	31680867		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	21812969	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	26990377		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CPLX1 6 shared pathwaysSynaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle Related via 6 shared pathways including Synaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle. STXBP1 6 shared pathwaysSynaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle Related via 6 shared pathways including Synaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle. RIMS1 6 shared pathwaysSynaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle Related via 6 shared pathways including Synaptic vesicle cycle, Serotonin Neurotransmitter Release Cycle. PPFIA4 5 shared pathwaysSerotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle Related via 5 shared pathways including Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle. PPFIA2 5 shared pathwaysSerotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle, Glutamate Neurotransmitter Release Cycle, Dopamine Neurotransmitter Release Cycle, Acetylcholine Neurotransmitter Release Cycle Related via 5 shared pathways including Serotonin Neurotransmitter Release Cycle, Norepinephrine Neurotransmitter Release Cycle.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CPLX1	0	[]	6	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle"]	0	[]
STXBP1	0	[]	6	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle"]	0	[]
RIMS1	0	[]	6	["Synaptic vesicle cycle","Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle"]	0	[]
PPFIA4	0	[]	5	["Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle"]	0	[]
PPFIA2	0	[]	5	["Serotonin Neurotransmitter Release Cycle","Norepinephrine Neurotransmitter Release Cycle","Glutamate Neurotransmitter Release Cycle","Dopamine Neurotransmitter Release Cycle","Acetylcholine Neurotransmitter Release Cycle"]	0	[]

Diseases Linked via Similar Genes

Schizophrenia Linked via 4 of 5 related genesCPLX1, STXBP1, RIMS1, PPFIA2 Neurodevelopmental disorder Linked via 3 of 5 related genesSTXBP1, RIMS1, PPFIA2 Bipolar disorder Linked via 2 of 5 related genesCPLX1, RIMS1 Bipolar depression Linked via 2 of 5 related genesCPLX1, RIMS1 Major depressive disorder Linked via 2 of 5 related genesCPLX1, RIMS1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Schizophrenia	4	["CPLX1","STXBP1","RIMS1","PPFIA2"]
Neurodevelopmental disorder	3	["STXBP1","RIMS1","PPFIA2"]
Bipolar disorder	2	["CPLX1","RIMS1"]
Bipolar depression	2	["CPLX1","RIMS1"]
Major depressive disorder	2	["CPLX1","RIMS1"]