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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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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

Associated conditions

Description Tests
Hypotonia, infantile, with psychomotor retardation and characteristic facies 2
MedGen: C4225203 OMIM: 616801 GeneReviews: UNC80 Deficiency
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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