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UNC80 unc-80 homolog, NALCN channel complex subunit [ Homo sapiens (human) ]

Gene ID: 285175, updated on 5-Aug-2018
Official Symbol
UNC80provided by HGNC
Official Full Name
unc-80 homolog, NALCN channel complex subunitprovided by HGNC
Primary source
HGNC:HGNC:26582
See related
Ensembl:ENSG00000144406 MIM:612636; Vega:OTTHUMG00000132963
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UNC-80; C2orf21
Summary
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]
Expression
Biased expression in brain (RPKM 5.6), adrenal (RPKM 2.1) and 3 other tissues See more
Orthologs
See UNC80 in Genome Data Viewer
Location:
2q34
Exon count:
68
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (209771925..209999300)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (210636717..210864024)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MYST/Esa1-associated factor 6 pseudogene 1 Neighboring gene microtubule associated protein 2 Neighboring gene RNA, 5S ribosomal pseudogene 118 Neighboring gene snail family zinc finger 1 pseudogene 1 Neighboring gene uncharacterized LOC101928020 Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene ribulose-5-phosphate-3-epimerase

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ14677, FLJ33496, FLJ53903, KIAA1843, WUGSC:H_NH0436C12.1

Gene Ontology Provided by GOA

Process Evidence Code Pubs
ion transmembrane transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
protein unc-80 homolog
Names
unc-80 homolog, NALCN activator

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051361.1 RefSeqGene

    Range
    5069..232376
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_032504.1NP_115893.1  protein unc-80 homolog isoform 1

    See identical proteins and their annotated locations for NP_115893.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). There are no full-length transcripts representing this variant in human; it is inferred from partial transcript data and from alignments of homologous transcripts.
    Source sequence(s)
    AC006385, AC006464, AC007038
    Consensus CDS
    CCDS46504.1
    UniProtKB/Swiss-Prot
    Q8N2C7
    Related
    ENSP00000391088.1, ENST00000439458.5
    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  2. NM_182587.3NP_872393.3  protein unc-80 homolog isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1. There are no full-length transcripts representing this variant in human; it is inferred from partial transcript data and from alignments of homologous transcripts.
    Source sequence(s)
    AB058746, AC006385, AC007038, AK027583, AK299022, AK302830, BC136690, CV392610, DA147023, DB301313, DN990286, DW009748, DW010027, DY654424
    Consensus CDS
    CCDS2387.2
    UniProtKB/Swiss-Prot
    Q8N2C7
    Related
    ENSP00000272845.5, OTTHUMP00000206605, ENST00000272845.10, OTTHUMT00000336930
    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    209771925..209999300
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003891.1XP_016859380.1  protein unc-80 homolog isoform X14

  2. XM_011511004.1XP_011509306.1  protein unc-80 homolog isoform X1

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  3. XM_011511008.1XP_011509310.1  protein unc-80 homolog isoform X8

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  4. XM_017003886.1XP_016859375.1  protein unc-80 homolog isoform X9

  5. XM_011511005.1XP_011509307.1  protein unc-80 homolog isoform X2

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  6. XM_017003887.1XP_016859376.1  protein unc-80 homolog isoform X10

  7. XM_011511007.1XP_011509309.1  protein unc-80 homolog isoform X5

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  8. XM_011511006.1XP_011509308.1  protein unc-80 homolog isoform X3

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  9. XM_017003885.1XP_016859374.1  protein unc-80 homolog isoform X6

  10. XM_005246476.1XP_005246533.1  protein unc-80 homolog isoform X7

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  11. XM_017003888.1XP_016859377.1  protein unc-80 homolog isoform X11

  12. XM_017003889.1XP_016859378.1  protein unc-80 homolog isoform X12

  13. XM_017003884.1XP_016859373.1  protein unc-80 homolog isoform X4

  14. XM_017003890.1XP_016859379.1  protein unc-80 homolog isoform X13

  15. XM_011511010.2XP_011509312.1  protein unc-80 homolog isoform X15

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  16. XM_017003893.1XP_016859382.1  protein unc-80 homolog isoform X17

  17. XM_011511012.1XP_011509314.1  protein unc-80 homolog isoform X19

    Conserved Domains (1) summary
    pfam15778
    Location:16236
    UNC80; Cation channel complex component UNC80
  18. XM_017003892.1XP_016859381.1  protein unc-80 homolog isoform X16

  19. XM_017003894.1XP_016859383.1  protein unc-80 homolog isoform X18

RNA

  1. XR_002959283.1 RNA Sequence

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