UNC79 (unc-79 homolog, NALCN channel complex subunit)

2014-11-01  

Identity

HGNC
UNC79
LOCATION
14q32.12
LOCUSID
57578
ALIAS
KIAA1409
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57578
MIM: 616884
HGNC: 19966
Ensembl: ENSG00000133958

Variants:

dbSNP: 57578
ClinVar: 57578
TCGA: ENSG00000133958
COSMIC: UNC79

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133958ENST00000256339Q9P2D8
ENSG00000133958ENST00000393151Q9P2D8
ENSG00000133958ENST00000553484Q9P2D8
ENSG00000133958ENST00000555664G3V2U4
ENSG00000133958ENST00000621021Q9P2D8

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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
201583042010A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.52
267087532016Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.12
301678502018Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).7

Citation

Dessen P

UNC79 (unc-79 homolog, NALCN channel complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75488/unc79