Identity
HGNC
LOCATION
2q34
LOCUSID
ALIAS
C2orf21,UNC-80
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 285175
MIM: 612636
HGNC: 26582
Ensembl: ENSG00000144406
Variants:
dbSNP: 285175
ClinVar: 285175
TCGA: ENSG00000144406
COSMIC: UNC80
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000144406 | ENST00000272845 | Q8N2C7 |
| ENSG00000144406 | ENST00000333907 | H3BLU5 |
| ENSG00000144406 | ENST00000439458 | Q8N2C7 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32620897 | 2020 | Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. | 11 |
| 32620897 | 2020 | Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. | 11 |
| 29572195 | 2018 | Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. | 5 |
| 30167850 | 2018 | Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). | 25 |
| 29572195 | 2018 | Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. | 5 |
| 30167850 | 2018 | Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). | 25 |
| 26545877 | 2016 | UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. | 24 |
| 26708751 | 2016 | Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. | 24 |
| 26708753 | 2016 | Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. | 19 |
| 27513830 | 2016 | Phenotypic evolution of UNC80 loss of function. | 9 |
| 26545877 | 2016 | UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN. | 24 |
| 26708751 | 2016 | Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. | 24 |
| 26708753 | 2016 | Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy. | 19 |
| 27513830 | 2016 | Phenotypic evolution of UNC80 loss of function. | 9 |
| 19535918 | 2009 | UNC80 functions as a scaffold for Src kinases in NALCN channel function. | 20 |
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-(unc-80-homolog-nalcn-channel-complex-subunit)
