• Gene id: 10497

Gene Summary

• Gene Symbol: UNC13B   Gene   UCSC   Ensembl
• Aliases: MUNC13, UNC13, Unc13h2, munc13-2
• Gene name: unc-13 homolog B
• Alternate names: protein unc-13 homolog B, homolog of rat Munc13 (diacylglycerol-binding), unc-13-like,
• Gene location: 9p13.3 (35162008: 35405337)     Exons: 44     NC_000009.12
• Gene summary(Entrez): 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
• OMIM: 0

Protein Summary

• Protein general information: O14795  
  • Name: Protein unc 13 homolog B (Munc13 2) (munc13)
  • Length: 1591  
  • Mass: 180679
  • Tissue specificity: Expressed in kidney cortical epithelial cells and brain. {ECO
• Sequence:

  MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGLSVEVWNKGLIWDTMV
  GTVWIALKTIRQSDEEGPGEWSTLEAETLMKDDEICGTRNPTPHKILLDTRFELPFDIPEEEARYWTYKWEQINA
  LGADNEYSSQEESQRKPLPTAAAQCSFEDPDSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQ
  LLLQGSSRDSCNDSMQSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSH
  SLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESFPEENASSPFTQARAH
  WIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLRRKKPLPLVSDLSLVQSRKAGITSAMATRTS
  LKDEELKSHVYKKTLQALIYPISCTTPHNFEVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNA
  DCLQRAAEKSCKHGAEDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSA
  KITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSDRIKVRVWDEDDDIKS
  RVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNLEKRTDKSAVSGAIRLQISVEIKGEEKVAPYHVQYTCLHENL
  FHYLTDIQGSGGVRIPEARGDDAWKVYFDETAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLL
  ANINAYYAHTTASTNVSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
  TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGPSIRNLDFWPKLITLI
  VSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALEEHEKDHLCKSADYMNLHFKVKWLHNEYVRD
  LPVLQGQVPEYPAWFEQFVLQWLDENEDVSLEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRK
  LECPDPSILAHYMRRFAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEA
  ADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQDADSVLRPLMDFLDG
  NLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQLIFTAAKELSHLSKLKDHMVREETRNLTPK
  QCAVLDLALDTIKQYFHAGGNGLKKTFLEKSPDLQSLRYALSLYTQTTDTLIKTFVRSQTTQGSGVDDPVGEVSI
  QVDLFTHPGTGEHKVTVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLG
  NEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPLGRKIHMDETGLTILRILSQRSNDEVAR
  EFVKLKSESRSTEEGS

• Structural information:
  • Protein Domains: (583..70-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (1013..115-)
    (/note="MHD1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00587-)
    (1263..140-)
    (/note="MHD2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00588-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR010439  IPR014770  IPR014772   IPR019558  IPR002219  IPR027080  IPR037302  
  • Prosite: PS50004 PS51258 PS51259 PS00479 PS50081
  • CDD: cd00029 cd04027
  • STRING: ENSP00000367756
• Other Databases: GeneCards:  UNC13B  Malacards:  UNC13B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0030742	GTP-dependent protein binding	IPI	molecular function
GO:0005516	calmodulin binding	ISS	molecular function
GO:0017137	Rab GTPase binding	NAS	molecular function
GO:0007268	chemical synaptic transmission	ISS	biological process
GO:0071333	cellular response to glucose stimulus	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0043195	terminal bouton	ISS	cellular component
GO:0019992	diacylglycerol binding	NAS	molecular function
GO:0019992	diacylglycerol binding	NAS	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016082	synaptic vesicle priming	ISS	biological process
GO:0050714	positive regulation of protein secretion	IDA	biological process
GO:0097151	positive regulation of inhibitory postsynaptic potential	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0010808	positive regulation of synaptic vesicle priming	ISS	biological process
GO:0005516	calmodulin binding	IBA	molecular function
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0016082	synaptic vesicle priming	IBA	biological process
GO:0016188	synaptic vesicle maturation	IBA	biological process
GO:0017075	syntaxin-1 binding	IBA	molecular function
GO:0035249	synaptic transmission, glutamatergic	IBA	biological process
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0043195	terminal bouton	IBA	cellular component
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0016081	synaptic vesicle docking	IBA	biological process
GO:0030672	synaptic vesicle membrane	IBA	cellular component
GO:0031594	neuromuscular junction	IBA	cellular component
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0061789	dense core granule priming	IBA	biological process
GO:0099525	presynaptic dense core vesicle exocytosis	IBA	biological process
GO:0060478	acrosomal vesicle exocytosis	IDA	biological process
GO:0099011	neuronal dense core vesicle exocytosis	ISS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0005543	phospholipid binding	IEA	molecular function
GO:0019992	diacylglycerol binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006887	exocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0014047	glutamate secretion	TAS	biological process
GO:1900426	positive regulation of defense response to bacterium	IEA	biological process
GO:0099011	neuronal dense core vesicle exocytosis	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0097470	ribbon synapse	IEA	cellular component
GO:0090382	phagosome maturation	IEA	biological process
GO:0035249	synaptic transmission, glutamatergic	IEA	biological process
GO:0032009	early phagosome	IEA	cellular component
GO:0016082	synaptic vesicle priming	IEA	biological process
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0007528	neuromuscular junction development	IEA	biological process
GO:0007268	chemical synaptic transmission	IEA	biological process
GO:0099525	presynaptic dense core vesicle exocytosis	IEA	biological process
GO:0098793	presynapse	IEA	cellular component
GO:0098686	hippocampal mossy fiber to CA3 synapse	IEA	cellular component
GO:0060384	innervation	IEA	biological process
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0048172	regulation of short-term neuronal synaptic plasticity	IEA	biological process
GO:0044305	calyx of Held	IEA	cellular component
GO:0031914	negative regulation of synaptic plasticity	IEA	biological process
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0016081	synaptic vesicle docking	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04721	Synaptic vesicle cycle

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq