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Aliases for UNC80 Gene

Aliases for UNC80 Gene

  • Unc-80 Homolog, NALCN Activator 2 3 5
  • C2orf21 3 4
  • Chromosome 2 Open Reading Frame 21 2
  • Unc-80 Homolog (C. Elegans) 2
  • WUGSC:H_NH0436C12.1 3
  • Unc-80 Homolog 3
  • KIAA1843 4
  • UNC-80 3

External Ids for UNC80 Gene

Previous HGNC Symbols for UNC80 Gene

  • C2orf21

Previous GeneCards Identifiers for UNC80 Gene

  • GC02P210345
  • GC02P210638
  • GC02P202481

Summaries for UNC80 Gene

GeneCards Summary for UNC80 Gene

UNC80 (Unc-80 Homolog, NALCN Activator) is a Protein Coding gene. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport.

UniProtKB/Swiss-Prot for UNC80 Gene

  • Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for UNC80 Gene

Genomics for UNC80 Gene

Genomic Location for UNC80 Gene

Chromosome:
2
Start:
209,771,993 bp from pter
End:
209,999,300 bp from pter
Size:
227,308 bases
Orientation:
Plus strand

Genomic View for UNC80 Gene

Genes around UNC80 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UNC80 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UNC80 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UNC80 Gene

No data available for Regulatory Elements for UNC80 Gene

Proteins for UNC80 Gene

  • Protein details for UNC80 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2C7-UNC80_HUMAN
    Recommended name:
    Protein unc-80 homolog
    Protein Accession:
    Q8N2C7
    Secondary Accessions:
    • B2RN50
    • B4DQY9
    • B4DZB3
    • C4IXS8
    • C9J1U3
    • Q96JI4
    • Q96SS0

    Protein attributes for UNC80 Gene

    Size:
    3258 amino acids
    Molecular mass:
    363390 Da
    Quaternary structure:
    • Interacts with NALCN and UNC79.

    Alternative splice isoforms for UNC80 Gene

neXtProt entry for UNC80 Gene

Proteomics data for UNC80 Gene at MOPED

Post-translational modifications for UNC80 Gene

Other Protein References for UNC80 Gene

No data available for DME Specific Peptides for UNC80 Gene

Domains & Families for UNC80 Gene

Protein Domains for UNC80 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UNC80 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2C7

UniProtKB/Swiss-Prot:

UNC80_HUMAN :
  • Belongs to the unc-80 family.
Family:
  • Belongs to the unc-80 family.
genes like me logo Genes that share domains with UNC80: view

No data available for Gene Families for UNC80 Gene

Function for UNC80 Gene

Molecular function for UNC80 Gene

UniProtKB/Swiss-Prot Function:
Component of the NALCN sodium channel complex, a cation channel activated either by neuropeptides substance P or neurotensin that controls neuronal excitability.
genes like me logo Genes that share phenotypes with UNC80: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UNC80 Gene

Localization for UNC80 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UNC80 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for UNC80 Gene COMPARTMENTS Subcellular localization image for UNC80 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for UNC80 Gene

Pathways & Interactions for UNC80 Gene

genes like me logo Genes that share pathways with UNC80: view

Pathways by source for UNC80 Gene

Gene Ontology (GO) - Biological Process for UNC80 Gene

None

No data available for SIGNOR curated interactions for UNC80 Gene

Drugs & Compounds for UNC80 Gene

No Compound Related Data Available

Transcripts for UNC80 Gene

mRNA/cDNA for UNC80 Gene

(12) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for UNC80 Gene

Unc-80 homolog (C. elegans):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for UNC80 Gene

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:

Relevant External Links for UNC80 Gene

GeneLoc Exon Structure for
UNC80
ECgene alternative splicing isoforms for
UNC80

Expression for UNC80 Gene

mRNA expression in normal human tissues for UNC80 Gene

mRNA differential expression in normal tissues according to GTEx for UNC80 Gene

This gene is overexpressed in Brain - Cerebellum (x8.6), Brain - Cerebellar Hemisphere (x7.8), Brain - Cortex (x4.4), Pituitary (x4.2), Brain - Frontal Cortex (BA9) (x4.2), and Brain - Anterior cingulate cortex (BA24) (x4.1).

Protein differential expression in normal tissues from HIPED for UNC80 Gene

This gene is overexpressed in Cervix (56.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for UNC80 Gene



SOURCE GeneReport for Unigene cluster for UNC80 Gene Hs.396201

genes like me logo Genes that share expression patterns with UNC80: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for UNC80 Gene

Orthologs for UNC80 Gene

This gene was present in the common ancestor of animals.

Orthologs for UNC80 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia UNC80 35
  • 91.72 (n)
  • 97.24 (a)
UNC80 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia UNC80 35
  • 92.47 (n)
  • 97.55 (a)
UNC80 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Unc80 35
  • 89.42 (n)
  • 96.44 (a)
Unc80 16
Unc80 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia UNC80 35
  • 99.69 (n)
  • 99.85 (a)
UNC80 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC689991 35
  • 89.29 (n)
  • 96.5 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 93 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 98 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
-- 36
  • 97 (a)
OneToMany
-- 36
  • 87 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
-- 36
  • 93 (a)
OneToMany
chicken
(Gallus gallus)
Aves C2ORF21 35
  • 81.49 (n)
  • 92.44 (a)
UNC80 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UNC80 36
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii unc80 35
  • 73.08 (n)
  • 81.52 (a)
UNC80 (1 of 2) 36
  • 73 (a)
OneToMany
UNC80 (2 of 2) 36
  • 81 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001566 35
  • 48.97 (n)
  • 39.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18437 35
  • 48.84 (n)
  • 38.01 (a)
CG18437 36
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea unc-80 36
  • 22 (a)
OneToOne
Species with no ortholog for UNC80:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for UNC80 Gene

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

Paralogs for UNC80 Gene

No data available for Paralogs for UNC80 Gene

Variants for UNC80 Gene

Sequence variations from dbSNP and Humsavar for UNC80 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs35822936 - 209,777,350(+) ATGAG(C/T)GGTTT reference, missense
VAR_060196 -
rs758942 -- 209,810,798(+) AGCAG(A/C)CTAGT intron-variant
rs760325 -- 209,810,433(+) TAAAA(A/G)GAGTA intron-variant
rs765929 -- 209,998,608(-) GTGGA(C/G)AAAGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for UNC80 Gene

Variant ID Type Subtype PubMed ID
nsv3142 CNV Loss 18451855
nsv3144 CNV Insertion 18451855
esv270021 CNV Insertion 20981092
nsv3145 CNV Insertion 18451855
esv1346753 CNV Insertion 17803354

Variation tolerance for UNC80 Gene

Gene Damage Index Score: 6.06; 75.22% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for UNC80 Gene

HapMap Linkage Disequilibrium report
UNC80
Human Gene Mutation Database (HGMD)
UNC80

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UNC80 Gene

Disorders for UNC80 Gene

Relevant External Links for UNC80

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC80

No disorders were found for UNC80 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UNC80 Gene

Publications for UNC80 Gene

  1. UNC80 functions as a scaffold for Src kinases in NALCN channel function. (PMID: 19535918) Wang H. … Ren D. (Channels (Austin) 2009) 2 3 67
  2. Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80. (PMID: 19092807) Lu B. … Ren D. (Nature 2009) 2 3
  3. TIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complex. (PMID: 24344204) Guarani V. … Harper J.W. (Mol. Cell. Biol. 2014) 3
  4. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3
  5. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3

Products for UNC80 Gene

Sources for UNC80 Gene

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