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

    Gene ID: 285175, updated on 2-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:26582
    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
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    Genomic context

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    See UNC80 in Genome Data Viewer
    Location:
    2q34
    Exon count:
    65
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (209771832..209999296)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (210251971..210480010)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (210636556..210864020)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MYST/Esa1-associated factor 6 pseudogene 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:210163633-210164292 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210164293-210164952 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210168954-210169953 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210169954-210170952 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:210233444-210234643 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12291 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210315845-210316346 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:210359703-210360902 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210383815-210384500 Neighboring gene microtubule associated protein 2 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210479322-210479919 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:210479920-210480516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616149-210616706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:210616707-210617263 Neighboring gene RNA, 5S ribosomal pseudogene 118 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210638115-210638616 Neighboring gene Sharpr-MPRA regulatory region 8450 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729225-210729762 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:210729763-210730300 Neighboring gene Sharpr-MPRA regulatory region 8902 Neighboring gene snail family zinc finger 1 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:210782411-210783610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17054 Neighboring gene KANSL1L antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:210911567-210912293 Neighboring gene KAT8 regulatory NSL complex subunit 1 like Neighboring gene ribulose-5-phosphate-3-epimerase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes. He Y, et al. Gene, 2018 Jun 20. PMID 29572195
    2. UNC80 Deficiency. Adam MP, et al. , 1993. PMID 28933810
    3. Sodium leak channels in neuronal excitability and rhythmic behaviors. Ren D. Neuron, 2011 Dec 22. PMID 22196327, Free PMC Article
    4. Phenotypic evolution of UNC80 loss of function. Valkanas E, et al. Am J Med Genet A, 2016 Dec. PMID 27513830, Free PMC Article
    5. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Stray-Pedersen A, et al. Am J Hum Genet, 2016 Jan 7. PMID 26708751, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
      Title: Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
    2. UNC80 variant is associated with neurodevelopmental diseases.
      Title: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
    3. Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes
      Title: Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.
    4. UNC80 bridges between UNC79 and the cation channel NALCN.
      Title: 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.
    5. Further supporting the UNC80 mutations as causative of these siblings' disorder, biallelic mutations in UNC80 have recently been described among individuals with an overlapping phenotype. This report expands the disease spectrum associated with UNC80 mutations
      Title: Phenotypic evolution of UNC80 loss of function.
    6. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex
      Title: Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
    7. findings demonstrate the fundamental significance of UNC80 and basal ionic conductance to human health
      Title: Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.
    8. UNC80 functions as a scaffold for Src kinases in NALCN channel function.
      Title: UNC80 functions as a scaffold for Src kinases in NALCN channel function.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables monoatomic cation channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in monoatomic cation homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in monoatomic cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cation channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    protein unc-80 homolog
    Names
    unc-80 homolog, NALCN activator

    NCBI Reference Sequences (RefSeq)

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    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
      4908..232372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001371986.1 → NP_001358915.1  protein unc-80 homolog isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC006385, AC006464, AC007038
      Consensus CDS
      CCDS92937.1
      UniProtKB/TrEMBL
      A0A669KAW8, A0A669KBC5
      Related
      ENSP00000501211.1, ENST00000673920.1
      Conserved Domains (1) summary
      pfam15778
      Location:16 → 236
      UNC80; Cation channel complex component UNC80

    2. NM_032504.2 → NP_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
      B2RN50, B4DQY9, B4DZB3, C4IXS8, C9J1U3, Q8N2C7, Q96JI4, Q96SS0
      UniProtKB/TrEMBL
      A0A669KAW8
      Related
      ENSP00000391088.1, ENST00000439458.5
      Conserved Domains (1) summary
      pfam15778
      Location:16 → 236
      UNC80; Cation channel complex component UNC80

    3. NM_182587.4 → NP_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/TrEMBL
      A0A669KAW8
      Related
      ENSP00000272845.5, ENST00000272845.10
      Conserved Domains (1) summary
      pfam15778
      Location:16 → 236
      UNC80; Cation channel complex component UNC80

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      209771832..209999296
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      210251971..210480010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N2C7.2 GenPept UniProtKB/Swiss-Prot:Q8N2C7

    Gene LinkOut

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