Gene Gene information from NCBI Gene database.
Entrez ID 10497
Gene name Unc-13 homolog B
Gene symbol UNC13B
Synonyms (NCBI Gene)
MUNC13UNC13Unc13h2munc13-2
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605836 12566 ENSG00000198722
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
PF00168 C2 2 99 C2 domain Domain
PF00130 C1_1 478 530 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00168 C2 600 709 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
PF00168 C2 1438 1548 C2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney cortical epithelial cells and brain. {ECO:0000269|PubMed:9607201}.
Sequence
MSLLCVRVKRAKFQGSPDKFNTYVTLKVQNVKSTTVAVRGDQPSWEQDFMFEISRLDLGL
SVEVWNKGLIWDTMVGTVWIALKTIRQSDEEGPGEWSTL
EAETLMKDDEICGTRNPTPHK
ILLDTRFELPFDIPEEEARYWTYKWEQINALGADNEYSSQEESQRKPLPTAAAQCSFEDP
DSAVDDRDSDYRSETSNSFPPPYHTASQPNASVHQFPVPVRSPQQLLLQGSSRDSCNDSM
QSYDLDYPERRAISPTSSSRYGSSCNVSQGSSQLSELDQYHEQDDDHRETDSIHSCHSSH
SLSRDGQAGFGEQEKPLEVTGQAEKEAACEPKEMKEDATTHPPPDLVLQKDHFLGPQESF
PEENASSPFTQARAHWIRAVTKVRLQLQEIPDDGDPSLPQWLPEGPAGGLYGIDSMPDLR
RKKPLPLVSDLSLVQSRKAGITSAMATRTSLKDEELKSHVYKKTLQALIYPISCTTPHNF
EVWTATTPTYCYECEGLLWGIARQGMRCSECGVKCHEKCQDLLNADCLQR
AAEKSCKHGA
EDRTQNIIMAMKDRMKIRERNKPEIFEVIRDVFTVNKAAHVQQMKTVKQSVLDGTSKWSA
KITITVVCAQGLQAKDKTGSSDPYVTVQVSKTKKRTKTIFGNLNPVWEEKFHFECHNSSD
RIKVRVWDEDDDIKSRVKQRLKRESDDFLGQTIIEVRTLSGEMDVWYNL
EKRTDKSAVSG
AIRLQISVEIKGEEKVAPYHVQYTCLHENLFHYLTDIQGSGGVRIPEARGDDAWKVYFDE
TAQEIVDEFAMRYGIESIYQAMTHFACLSSKYMCPGVPAVMSTLLANINAYYAHTTASTN
VSASDRFAASNFGKERFVKLLDQLHNSLRIDLSTYRNNFPAGSPERLQDLKSTVDLLTSI
TFFRMKVQELQSPPRASQVVKDCVKACLNSTYEYIFNNCHDLYSRQYQLKQELPPEEQGP
SIRNLDFWPKLITLIVSIIEEDKNSYTPVLNQFPQELNVGKVSAEVMWHLFAQDMKYALE
EH
EKDHLCKSADYMNLHFKVKWLHNEYVRDLPVLQGQVPEYPAWFEQFVLQWLDENEDVS
LEFLRGALERDKKDGFQQTSEHALFSCSVVDVFTQLNQSFEIIRKLECPDPSILAHYMRR
FAKTIGKVLMQYADILSKDFPAYCTKEKLPCILMNNVQQLRVQLEKMFEAMGGKELDLEA
ADSLKELQVKLNTVLDELSMVFGNSFQVRIDECVRQMADILGQVRGTGNASPDARASAAQ
DADSVLRPLMDFLDGNLTLFATVCEKTVLKRVLKELWRVVMNTMERMIVLPPLTDQTGTQ
LIFTAAKELSHLSKLKDHMVREETRNLTPKQCAVLDLALDTIKQYFHAGGNGLKKTFLEK
SPDLQSLRYALSLYTQTTDTLIKT
FVRSQTTQGSGVDDPVGEVSIQVDLFTHPGTGEHKV
TVKVVAANDLKWQTAGMFRPFVEVTMVGPHQSDKKRKFTTKSKSNNWAPKYNETFHFLLG
NEEGPESYELQICVKDYCFAREDRVLGLAVMPLRDVTAKGSCACWCPL
GRKIHMDETGLT
ILRILSQRSNDEVAREFVKLKSESRSTEEGS
Sequence length 1591
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Likely benign rs188569841 RCV005927599
Malignant tumor of esophagus Likely benign rs188569841 RCV005927600
UNC13B-related seizure disorder Uncertain significance rs1008082717 RCV002275676
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Bipolar Disorder Associate 30117296
Diabetic Nephropathies Associate 20687937, 31713534
Neoplasms Associate 29636415, 32599841
Parkinson Disease Associate 21812969