UNC80 Chromosome 2
Unc-80 subunit of NALCN channel complex
Upload your DNA to see your personal genotypes for variants in UNC80.
What This Gene Does
The protein encoded by this gene is a component of a voltage-independent 'leak' ion-channel complex, in which it performs essential functions, such as serving as a bridge between two other components (sodium leak channel non-selective and UNC79) and as a scaffold for Src kinases. Leak channels play an importnat role in establishment and maintenance of resting membrane potentials in neurons. Mutations in this gene are associated with congenital infantile encephalopathy, intellectual disability and growth issues. [provided by RefSeq, Aug 2016]
Gene Info
Gene Group
NALCN channel complex subunits
Locus Type
gene with protein product
Location
2q34
Ensembl
ENSG00000144406
Associated Conditions (12)
Hypotonia
infantile
with psychomotor retardation and characteristic facies 2
Inborn genetic diseases
UNC80-related disorder
Intellectual disability
Neurodevelopmental delay
See cases
Moderate global developmental delay
Encephalopathy
with psychomotor retardation and characteristic facies 1
with psychomotor retardation and characteristic facies
Key Variants
RS1001497433
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Health Risk
RS1164061431
Conflicting classifications of pathogenicity
Health Risk
RS1174664470
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Health Risk
RS1255262851
Conflicting classifications of pathogenicity
Health Risk
RS1382707981
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138421862
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142126808
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypotonia, infantile
Health Risk
RS1425490698
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143612678
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
Health Risk
RS144011305
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS144170692
Conflicting classifications of pathogenicity
UNC80-related disorder, Hypotonia, infantile
Health Risk
RS1467598370
Conflicting classifications of pathogenicity
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2091489920 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS2092524250 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS2093032018 | Health Risk | Pathogenic | — |
| RS2124882927 | Health Risk | Pathogenic | — |
| RS2124953130 | Health Risk | Pathogenic | — |
| RS2124981606 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS2125019136 | Health Risk | Pathogenic | — |
| RS2125032555 | Health Risk | Pathogenic | — |
| RS2153825777 | Health Risk | Pathogenic | — |
| RS2153827732 | Health Risk | Pathogenic | — |
| RS2153828826 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS2470960967 | Health Risk | Pathogenic | — |
| RS2470967737 | Health Risk | Pathogenic | — |
| RS2470967977 | Health Risk | Pathogenic | — |
| RS2470970320 | Health Risk | Pathogenic | — |
| RS2471056141 | Health Risk | Pathogenic | — |
| RS2471063377 | Health Risk | Pathogenic | — |
| RS2471063455 | Health Risk | Pathogenic | — |
| RS2471105635 | Health Risk | Pathogenic | — |
| RS2471119196 | Health Risk | Pathogenic | — |
| RS2471134516 | Health Risk | Pathogenic | — |
| RS2471142150 | Health Risk | Pathogenic | — |
| RS2471148791 | Health Risk | Pathogenic | — |
| RS2471154038 | Health Risk | Pathogenic | — |
| RS2471157408 | Health Risk | Pathogenic | — |
| RS2471205489 | Health Risk | Pathogenic | — |
| RS2471268382 | Health Risk | Pathogenic | — |
| RS538956139 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS540644856 | Health Risk | Pathogenic | — |
| RS74517001 | Health Risk | Pathogenic | UNC80-related disorder, UNC80-related disorder |
| RS750226213 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS751900819 | Health Risk | Pathogenic | — |
| RS751913925 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS754371531 | Health Risk | Pathogenic | — |
| RS777091779 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS778056528 | Health Risk | Pathogenic | — |
| RS869025320 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS940692104 | Health Risk | Pathogenic | — |
| RS981874506 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS982121969 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1036056877 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS1574574226 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS1575147319 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS200659479 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, Hypotonia, infantile |
| RS2090097617 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS2470895545 | Health Risk | Pathogenic/Likely pathogenic | UNC80-related disorder, UNC80-related disorder |
| RS371905161 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 |
| RS767633598 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies |
| RS864321622 | Health Risk | Pathogenic/Likely pathogenic | Encephalopathy, Hypotonia, infantile |
| RS886043644 | Health Risk | Pathogenic/Likely pathogenic | — |