UNC13A (unc-13 homolog A)

2014-08-01  

Identity

HGNC
UNC13A
LOCATION
19p13.11
LOCUSID
23025
ALIAS
Munc13-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23025
MIM: 609894
HGNC: 23150
Ensembl: ENSG00000130477

Variants:

dbSNP: 23025
ClinVar: 23025
TCGA: ENSG00000130477
COSMIC: UNC13A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130477ENST00000519716Q9UPW8
ENSG00000130477ENST00000550896F8VZH8
ENSG00000130477ENST00000551649F8W059
ENSG00000130477ENST00000552293F8W0P6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

References

Pubmed IDYearTitleCitations
197349012009Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.116
197349012009Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.116
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
221189042012UNC13A is a modifier of survival in amyotrophic lateral sclerosis.28
281923692017Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.20
229212692013UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.16
249318362014C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.16
222488762012RIM, Munc13, and Rab3A interplay in acrosomal exocytosis.14
203859242010Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.8
203859242010Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis.8

Citation

Dessen P

UNC13A (unc-13 homolog A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54754/unc13a