UNC80 (unc-80 homolog, NALCN channel complex subunit)

2014-11-01  

Identity

HGNC
LOCATION
2q34
LOCUSID
ALIAS
C2orf21,UNC-80
FUSION GENES

Other Information

Locus ID:

NCBI: 285175
MIM: 612636
HGNC: 26582
Ensembl: ENSG00000144406

Variants:

dbSNP: 285175
ClinVar: 285175
TCGA: ENSG00000144406
COSMIC: UNC80

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144406ENST00000272845Q8N2C7
ENSG00000144406ENST00000333907H3BLU5
ENSG00000144406ENST00000439458Q8N2C7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195359182009UNC80 functions as a scaffold for Src kinases in NALCN channel function.14
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
265458772016UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.0
267087512016Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.0
275138302016Phenotypic evolution of UNC80 loss of function.0
295721952018Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.0

Citation

Dessen P

UNC80 (unc-80 homolog, NALCN channel complex subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75489/unc80