UNC13B (unc-13 homolog B)

2014-08-01 Affiliation

Identity

HGNC

UNC13B

LOCATION

9p13.3

LOCUSID

10497

ALIAS

MUNC13,UNC13,Unc13h2,munc13-2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000198722	ENST00000378495	O14795
ENSG00000198722	ENST00000378496	F8W8M9
ENSG00000198722	ENST00000396787	B1AM27
ENSG00000198722	ENST00000481299	A0A0U1RRB5
ENSG00000198722	ENST00000617908	I6L9J0
ENSG00000198722	ENST00000619578	O14795
ENSG00000198722	ENST00000634487	A0A0U1RRL2
ENSG00000198722	ENST00000635942	A0A1B0GUS7
ENSG00000198722	ENST00000636694	A0A1B0GVW8

Expression (GTEx)

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

Pathway	Source	External ID
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
Neuronal System	REACTOME	R-HSA-112316
Transmission across Chemical Synapses	REACTOME	R-HSA-112315
Neurotransmitter Release Cycle	REACTOME	R-HSA-112310
Norepinephrine Neurotransmitter Release Cycle	REACTOME	R-HSA-181430
Serotonin Neurotransmitter Release Cycle	REACTOME	R-HSA-181429
Glutamate Neurotransmitter Release Cycle	REACTOME	R-HSA-210500
Dopamine Neurotransmitter Release Cycle	REACTOME	R-HSA-212676
Acetylcholine Neurotransmitter Release Cycle	REACTOME	R-HSA-264642

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
12871971	2003	Regulation of insulin exocytosis by Munc13-1.	25
19492809	2009	Structural insights into the calmodulin-Munc13 interaction obtained by cross-linking and mass spectrometry.	17
15466010	2004	Identification of novel MUNC13-4 mutations in familial haemophagocytic lymphohistiocytosis and functional analysis of MUNC13-4-deficient cytotoxic T lymphocytes.	15
18633107	2008	G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes.	13
18633107	2008	G/T substitution in intron 1 of the UNC13B gene is associated with increased risk of nephropathy in patients with type 1 diabetes.	13
16138900	2005	Diacylglycerol-activated Hmunc13 serves as an effector of the GTPase Rab34.	11
26990377	2016	Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study.	6
19641095	2009	Rab34 and its effector munc13-2 constitute a new pathway modulating protein secretion in the cellular response to hyperglycemia.	4
29485200	2018	Tomosyn guides SNARE complex formation in coordination with Munc18 and Munc13.	4

Citation

Dessen P

UNC13B (unc-13 homolog B)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54755/unc13b