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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UNC80 Gene

protein-coding   GIFtS: 46
GCID: GC02P210638

Unc-80 Homolog (C. Elegans)

(Previous name: chromosome 2 open reading frame 21)
(Previous symbol: C2orf21)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Unc-80 Homolog (C. Elegans)1 2     UNC-802
C2orf211 2 3 5     WUGSC:H_NH0436C12.12
KIAA18433 5     Protein Unc-80 Homolog2
Chromosome 2 Open Reading Frame 211     

External Ids:    HGNC: 265821   Entrez Gene: 2851752   Ensembl: ENSG000001444067   OMIM: 6126365   UniProtKB: Q8N2C73   

Export aliases for UNC80 gene to outside databases

Previous GC identifers: GC02P210345 GC02P202481


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for UNC80 Gene: 
UNC80 (unc-80 homolog (C. elegans)) is a protein-coding gene. Diseases associated with UNC80 include neuronitis, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport.

UniProtKB/Swiss-Prot: UNC80_HUMAN, Q8N2C7
Function: Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides
substance P or neurotensin that controls neuronal excitability (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for UNC80
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for UNC80

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UNC80


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q35   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q35

UNC80 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UNC80 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P210638:  view genomic region     (about GC identifiers)

Start:
210,636,717 bp from pter      End:
210,864,024 bp from pter
Size:
227,308 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UNC80_HUMAN, Q8N2C7 (See protein sequence)
Recommended Name: Protein unc-80 homolog  
Size: 3258 amino acids; 363390 Da
Subunit: Interacts with NALCN and UNC79 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein (Potential)
Secondary accessions: B2RN50 B4DQY9 B4DZB3 C4IXS8 Q96JI4 Q96SS0
Alternative splicing: 6 isoforms:  Q8N2C7-1   Q8N2C7-2   Q8N2C7-3   Q8N2C7-4   Q8N2C7-5   Q8N2C7-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UNC80: NX_Q8N2C7

Explore proteomics data for UNC80 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on tyrosine residues (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N2C7

  • UNC80 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UNC80 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_115893.1  NP_872393.3  

    ENSEMBL proteins: 
     ENSP00000272845   ENSP00000335576   ENSP00000391088   ENSP00000441895  
    Reactome Protein details: Q8N2C7
    Human Recombinant Protein Products for UNC80: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse Sino Biological Recombinant Proteins
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    Cloud-Clone Corp. Proteins for UNC80 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--

    UNC80 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q8N2C7

    UniProtKB/Swiss-Prot: UNC80_HUMAN, Q8N2C7
    Similarity: Belongs to the unc-80 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UNC80_HUMAN, Q8N2C7
    Function: Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides
    substance P or neurotensin that controls neuronal excitability (By similarity)

    Phenotypes:
         4 GenomeRNAi human phenotypes for UNC80:

     Decreased Wnt reporter activit  Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UNC80 
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    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC80 (see all 67):
    hsa-miR-520e hsa-miR-15a hsa-miR-106a hsa-miR-128 hsa-miR-759 hsa-miR-629 hsa-miR-93 hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidUNC80 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for UNC80 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for UNC80
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    UNC80 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UNC80

    3 Interacting proteins for UNC80 (Q8N2C73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663I2D: score=1 
    NCAM2O153943I2D: score=1 
    --Q6FG913I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    UNC80 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for UNC80

    Search CenterWatch for drugs/clinical trials and news about UNC80

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for UNC80 gene (2 alternative transcripts): 
    NM_032504.1  NM_182587.3  

    Unigene Cluster for UNC80:

    Unc-80 homolog (C. elegans)
    Hs.396201  [show with all ESTs]
    Unigene Representative Sequence: NM_032504
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478701(uc002vdj.1) ENST00000272845 ENST00000489023(uc002vdk.2)
    ENST00000477301 ENST00000481494 ENST00000333907(uc002vdl.1 uc010zje.1)
    ENST00000477924 ENST00000439458(uc010zjc.1 uc021vvx.1 uc010zjd.1)
    ENST00000539183
    miRNA
    Products:
         
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    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate UNC80 (see all 67):
    hsa-miR-520e hsa-miR-15a hsa-miR-106a hsa-miR-128 hsa-miR-759 hsa-miR-629 hsa-miR-93 hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidUNC80 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat UNC80

    Additional mRNA sequence: 

    AB058746.2 AK027583.1 AK090815.1 AK127501.1 AK299022.1 AK302830.1 BC136690.1 BC136693.1 
    BX640726.1 

    9 DOTS entries:

    DT.413240  DT.92044358  DT.97818702  DT.306936  DT.120993166  DT.40112824  DT.101955894  DT.100721857 
    DT.120993184 

    4 AceView cDNA sequences:

    NM_182587 AX746629 AK090815 BU176750 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for UNC80    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                    -                                                                                                                                       
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37 ^ 38a · 38b ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45
    SP1:                                                                                                                                    
    SP2:                                                                                      -                                             
    SP3:                                                                                                                                    


    ECgene alternative splicing isoforms for UNC80

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UNC80 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAAAAATGC
    UNC80 Expression
    About this image


    See UNC80 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UNC80

    SOURCE GeneReport for Unigene cluster: Hs.396201
        SABiosciences Custom PCR Arrays for UNC80
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UNC80

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for UNC80 gene from 6/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Unc801 unc-80 homolog (C. elegans) 89.54(n)
    96.68(a)
      329178  NM_175510.3  NP_780719.2 
    chicken
    (Gallus gallus)
    Aves UNC801 unc-80 homolog (C. elegans) 81.58(n)
    92.6(a)
      424003  XM_421859.3  XP_421859.3 
    lizard
    (Anolis carolinensis)
    Reptilia UNC806
    unc-80 homolog (C. elegans)
    87(a)
    1 ↔ 1
    1(113141563-113343720)
    zebrafish
    (Danio rerio)
    Actinopterygii unc801 unc-80 homolog (C. elegans) 73.39(n)
    82.1(a)
      100536734  XM_003198768.1  XP_003198816.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG184376
    --
    28(a)
    1 ↔ 1
    3R(23488161-23502821)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-806
    Protein unc-80
    27(a)
    1 ↔ 1
    V(20879854-20898907)


    ENSEMBL Gene Tree for UNC80 (if available)
    TreeFam Gene Tree for UNC80 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4139 SNPs in UNC80 are shown (see all 4139)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs672703411,2
    C--210191543(+) TCTCT-/CT    
       
    /CTCT
    GTGTG
    2 -- int12NA 4
    rs1876218821,2
    --210634736(+) AGGGTA/TCAGGA 2 -- us2k10--------
    rs1414265041,2
    C--210634924(+) TGATTA/CCTACA 2 -- us2k10--------
    rs1463835721,2
    --210634975(+) CATTCA/GTATCT 2 -- us2k10--------
    rs1397628111,2
    --210635039(+) TTGTGA/GGCAAG 2 -- us2k10--------
    rs1443533691,2
    --210635046(+) CAAGAC/GTCCAT 2 -- us2k10--------
    rs118903311,2
    C,F,H--210635127(+) TCTTTG/CTTTGT 2 -- us2k11Minor allele frequency- C:0.00NA 2
    rs130179871,2
    C,F,H--210635224(+) TTTCTA/GTGGCA 2 -- us2k118Minor allele frequency- G:0.48NS EA NA WA 2336
    rs1914358811,2
    --210635373(+) TCATGC/TCTGTA 2 -- us2k10--------
    rs64355381,2
    C,F--210635387(+) ccagaA/Gctttg 2 -- us2k14Minor allele frequency- G:0.19NA WA CSA 123

    HapMap Linkage Disequilibrium report for UNC80 (210636717 - 210864024 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for UNC80:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1346753CNV Insertion17803354
    esv270021CNV Insertion20981092
    nsv3145CNV Insertion18451855
    nsv3144CNV Insertion18451855
    nsv3142CNV Loss18451855


    Human Gene Mutation Database (HGMD): UNC80
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UNC80
    DNA2.0 Custom Variant and Variant Library Synthesis for UNC80

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612636    OMIM disorders: --

    2 diseases for UNC80:    About MalaCards
    neuronitis    


    UNC80 for disorders           About GeneDecksing


    Export disorders for UNC80 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for UNC80 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with UNC80)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Peptide neurotransmitters activate a cation channel c omplex of NALCN and UNC-80. (PubMed id 19092807)1, 3 Lu B....Ren D. (2009)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (2002)
    4. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2 Nagase T.... Ohara O. (2001)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    7. UNC80 functions as a scaffold for Src kinases in NALC N channel function. (PubMed id 19535918)1 Wang H. and Ren D. (2009)
    8. A putative cation channel, NCA-1, and a novel protein, UNC-80, transmit neuronal activity in C. elegans. (PubMed id 18336069)1 Yeh E....Zhen M. (2008)
    9. UNC-80 and the NCA ion channels contribute to endocytosis defects in synaptojanin mutants. (PubMed id 17825559)1 Jospin M....Schuske K. (2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 285175 HGNC: 26582 AceView: C2orf21 Ensembl:ENSG00000144406 euGenes: HUgn285175
    ECgene: UNC80 H-InvDB: UNC80

    (According to HUGE)
    About This Section
    HUGE: KIAA1843

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for UNC80 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UNC80 gene:
    Search GeneIP for patents involving UNC80

    GeneCards and IP:
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