UNC13B (unc-13 homolog B)

2014-08-01  

Identity

HGNC
LOCATION
9p13.3
LOCUSID
ALIAS
MUNC13,UNC13,Unc13h2,munc13-2
FUSION GENES

Other Information

Locus ID:

NCBI: 10497
MIM: 605836
HGNC: 12566
Ensembl: ENSG00000198722

Variants:

dbSNP: 10497
ClinVar: 10497
TCGA: ENSG00000198722
COSMIC: UNC13B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198722ENST00000378495O14795
ENSG00000198722ENST00000378496F8W8M9
ENSG00000198722ENST00000396787B1AM27
ENSG00000198722ENST00000481299A0A0U1RRB5
ENSG00000198722ENST00000617908I6L9J0
ENSG00000198722ENST00000619578O14795
ENSG00000198722ENST00000634487A0A0U1RRL2
ENSG00000198722ENST00000635942A0A1B0GUS7
ENSG00000198722ENST00000636694A0A1B0GVW8

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Synaptic vesicle cycleKEGGko04721
Synaptic vesicle cycleKEGGhsa04721
Neuronal SystemREACTOMER-HSA-112316
Transmission across Chemical SynapsesREACTOMER-HSA-112315
Neurotransmitter Release CycleREACTOMER-HSA-112310
Norepinephrine Neurotransmitter Release CycleREACTOMER-HSA-181430
Serotonin Neurotransmitter Release CycleREACTOMER-HSA-181429
Glutamate Neurotransmitter Release CycleREACTOMER-HSA-210500
Dopamine Neurotransmitter Release CycleREACTOMER-HSA-212676
Acetylcholine Neurotransmitter Release CycleREACTOMER-HSA-264642

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
351358832022Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.24
351358832022Munc13 structural transitions and oligomers that may choreograph successive stages in vesicle priming for neurotransmitter release.24
338768202021UNC13B variants associated with partial epilepsy with favourable outcome.19
338768202021UNC13B variants associated with partial epilepsy with favourable outcome.19
321349752020Munc13 mediates klotho-inhibitable diacylglycerol-stimulated exocytotic insertion of pre-docked TRPC6 vesicles.4
321349752020Munc13 mediates klotho-inhibitable diacylglycerol-stimulated exocytotic insertion of pre-docked TRPC6 vesicles.4
317135342019The Association of UNC13B Gene Polymorphisms and Diabetic Kidney Disease in a Chinese Han Population.4
317135342019The Association of UNC13B Gene Polymorphisms and Diabetic Kidney Disease in a Chinese Han Population.4
294852002018Tomosyn guides SNARE complex formation in coordination with Munc18 and Munc13.12
301172962018De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.5
294852002018Tomosyn guides SNARE complex formation in coordination with Munc18 and Munc13.12
301172962018De novo UNC13B mutation identified in a bipolar disorder patient increases a rare exon-skipping variant.5
269903772016Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.13
269903772016Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.13
248545372014Structural insights into calmodulin/Munc13 interaction.3

Citation

Dessen P

UNC13B (unc-13 homolog B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54755/css/haematological-explorer/favicon/favicon-32x32.png