UNC13B (unc-13 homolog B)

2014-08-01  

Identity

HGNC
UNC13B
LOCATION
9p13.3
LOCUSID
10497
ALIAS
MUNC13,UNC13,Unc13h2,munc13-2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/deep-insight-explorer/gene-fusions-explorer/css/lib/dataTables.bootstrap.min.css