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
381753012024Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.5
381753012024Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.5
378873202023Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment.0
378873202023Interaction of the C9orf72-Amyotrophic Lateral Sclerosis-Related Proline-Arginine Dipeptide Repeat Protein with the RNA-Binding Protein NOVA1 Causes Decreased Expression of UNC13A Due to Enhanced Inclusion of Cryptic Exons, Which Is Reversed by Betulin Treatment.0
351976262022TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.163
351976282022TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.137
351976262022TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.163
351976282022TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.137
338180642021Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1.2
338180642021Probing the Diacylglycerol Binding Site of Presynaptic Munc13-1.2
326272292020The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.18
326272292020The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis.18
303681602019UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.21
312015982019UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis.16
303681602019UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.21

Citation

Dessen P

UNC13A (unc-13 homolog A)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54754/unc13a-(unc-13-homolog-a)