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

2014-11-01  

Identity

HGNC
LOCATION
14q32.12
LOCUSID
ALIAS
KIAA1409
FUSION GENES

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

Pathways

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

References

Pubmed IDYearTitleCitations
371838002023A new neurodevelopmental disorder linked to heterozygous variants in UNC79.2
371838002023A new neurodevelopmental disorder linked to heterozygous variants in UNC79.2
301678502018Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).25
301678502018Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).25
267087532016Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.19
267087532016Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.19
201583042010A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.55
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
201583042010A genomewide association study of nicotine and alcohol dependence in Australian and Dutch populations.55
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

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-(unc-79-homolog-nalcn-channel-complex-subunit)