UNC80 Homolog, NALCN Channel Complex Subunit

Alternative Names

  • UNC80
  • UNC80, C. elegans, Homolog of
  • Chromosome 2 Open Reding Frame 21
  • C2ORF21
  • KIAA1843
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OMIM Number

612636

NCBI Gene ID

285175

Uniprot ID

Q8N2C7

Length

227,308 bases

No. of Exons

68

No. of isoforms

7

Protein Name

Protein unc-80 homolog

Molecular Mass

363390 Da

Amino Acid Count

3258

Genomic Location

chr2:209,771,993-209,999,300

Gene Map Locus
2q34

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
NM_032504.1:c.1679_1680delACEgyptchr2:209817938-209817939PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.51014_51015AC[1]; NM_032504.1:c.1679_1680delAC; NP_115893.1:p.Thr561fs1574579609684714
NM_032504.1:c.520C>TSaudi Arabiachr2:209777479PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.10555C>T; NM_032504.1:c.520C>T; NP_115893.1:p.Arg174Ter751913925684713
NM_032504.1:c.5671C>TEgyptchr2:209929933PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.163009C>T; NM_032504.1:c.5671C>T; NP_115893.1:p.Arg1891Ter1262654975684715
NM_032504.1:c.601-1G>AEgyptchr2:209786065PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.19141G>A; NM_032504.1:c.601-1G>A1574434743684717
NM_032504.1:c.7697A>CLebanonchr2:209967523Likely PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.200602A>C; NM_032504.1:c.7697A>C; NP_115893.1:p.Glu2566Ala
NM_032504.1:c.8058+2T>GEgyptchr2:209970959Likely PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.204035T>G; NM_032504.1:c.8058+2T>G157517967684716
NM_032504.1:c.8525G>APalestine; United Arab...NC_000002.12:g.209976254G>ALikely PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2NG_051361.1:g.209330G>A; NM_032504.1:c.8525G>A; NP_115893.1:p.Arg2842Gln1255262851
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