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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
  • Protein 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

Entrez Gene Summary for UNC80 Gene

  • 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]

GeneCards Summary for UNC80 Gene

UNC80 (Unc-80 Homolog, NALCN Activator) is a Protein Coding gene. Diseases associated with UNC80 include Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 and Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome. 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, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.

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

Genomics for UNC80 Gene

Regulatory Elements for UNC80 Gene

Enhancers for UNC80 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G209430 0.2 ENCODE 5.2 -340.2 -340246 2.2 MAP2 UNC80 GC02M209529
GH02G209771 1 ENCODE 0.7 -0.2 -182 0.2 MLX ZFP64 ARID4B SIN3A ZNF48 SLC30A9 GLIS2 ZNF143 ZNF263 SP5 ENSG00000272807 UNC80 RNA5SP118
GH02G209682 0.4 FANTOM5 1.6 -89.1 -89095 0.4 TBX3 MAP2 UNC80 GC02P209686 GC02P209534
GH02G209726 0.4 ENCODE 0.2 -45.5 -45500 0.9 JUND RNA5SP118 UNC80
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around UNC80 on UCSC Golden Path with GeneCards custom track

Promoters for UNC80 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000129621 -192 800 MLX ZFP64 ARID4B SIN3A ZNF48 SLC30A9 GLIS2 ZNF143 ZNF263 SP5

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

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:
    • Found in a complex with NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79. Interacts with NALCN. Interacts with UNC79.

    Alternative splice isoforms for UNC80 Gene

neXtProt entry for UNC80 Gene

Post-translational modifications 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, required for channel regulation. This complex is a cation channel activated by neuropeptides substance P, neurotensin, and extracellular calcium that regulates neuronal excitability by controlling the sizes of NALCN-dependent sodium-leak current. UNC80 is essential for NALCN sensitivity to extracellular calcium.
genes like me logo Genes that share phenotypes with UNC80: view

Animal Model Products

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UNC80 gene
Compartment Confidence
plasma membrane 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for UNC80 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with UNC80: view

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with UNC80: view

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

(21) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of UNC80 Gene:

UNC80

SOURCE GeneReport for Unigene cluster for UNC80 Gene:

Hs.396201

mRNA Expression by UniProt/SwissProt for UNC80 Gene:

Q8N2C7-UNC80_HUMAN
Tissue specificity: Moderately expressed in fetal brain, spinal cord, skeletal muscle, thymus, spleen, fetal liver, small intestine, colon, kidney and uterus. Highly expressed in adrenal gland, prostate and testis, as well as in brain and cerebellum.

Evidence on tissue expression from TISSUES for UNC80 Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with UNC80: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia UNC80 34 35
  • 99.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 98 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 87 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 95 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
dog
(Canis familiaris)
Mammalia UNC80 34 35
  • 92.47 (n)
cow
(Bos Taurus)
Mammalia UNC80 34 35
  • 91.72 (n)
mouse
(Mus musculus)
Mammalia Unc80 34 16 35
  • 89.42 (n)
rat
(Rattus norvegicus)
Mammalia LOC689991 34
  • 89.29 (n)
chicken
(Gallus gallus)
Aves UNC80 35
  • 91 (a)
OneToOne
C2ORF21 34
  • 81.49 (n)
lizard
(Anolis carolinensis)
Reptilia UNC80 35
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii UNC80 (2 of 2) 35
  • 81 (a)
OneToMany
unc80 34
  • 73.08 (n)
UNC80 (1 of 2) 35
  • 73 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001566 34
  • 48.97 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG18437 34 35
  • 48.84 (n)
worm
(Caenorhabditis elegans)
Secernentea unc-80 35
  • 22 (a)
OneToOne
Species where no ortholog for UNC80 was found in the sources mined by GeneCards:
  • 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
rs864321623 Pathogenic, Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801] 209,777,524(+) TCTTC(A/G)TGTTT nc-transcript-variant, reference, missense
rs869025316 other, Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801] 209,918,616(+) GGGTT(C/T)CTCAG nc-transcript-variant, reference, missense
rs200659479 Pathogenic 209,813,719(+) GGCTG(C/T)GACAC nc-transcript-variant, reference, stop-gained
rs864321622 Pathogenic 209,872,917(+) ACAAG(C/T)GAAAC nc-transcript-variant, upstream-variant-2KB, reference, stop-gained
rs869025320 Pathogenic 209,775,898(+) TTGAG(C/T)GAGTG nc-transcript-variant, reference, stop-gained, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv1203e212 CNV loss 25503493
esv1346753 CNV insertion 17803354
esv3305744 CNV mobile element insertion 20981092
esv3362104 CNV insertion 20981092
esv3400426 CNV insertion 20981092
esv3434082 CNV insertion 20981092
esv3435709 CNV insertion 20981092
esv3594153 CNV loss 21293372
nsv3142 CNV deletion 18451855
nsv3144 CNV insertion 18451855
nsv3145 CNV insertion 18451855
nsv477779 CNV novel sequence insertion 20440878
nsv955099 CNV insertion 24416366
nsv998029 CNV loss 25217958

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

Human Gene Mutation Database (HGMD)
UNC80
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UNC80

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

Disorders for UNC80 Gene

MalaCards: The human disease database

(7) MalaCards diseases for UNC80 Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • ihprf2
hypotonia-speech impairment-severe cognitive delay syndrome
  • ihprf syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies
  • hypotonia, infantile, with psychomotor retardation and characteristic facies 1
hypotonia
bruxism
  • bruxism - teeth grinding
- elite association - COSMIC cancer census association via MalaCards
Search UNC80 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

UNC80_HUMAN
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801]: An autosomal recessive, neurodegenerative disease characterized by severe truncal hypotonia since birth or early infancy, progressive peripheral spasticity, and profound psychomotor developmental delay. Some patients may have seizures. {ECO:0000269 PubMed:26545877, ECO:0000269 PubMed:26708751, ECO:0000269 PubMed:26708753}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for UNC80

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
UNC80
genes like me logo Genes that share disorders with UNC80: view

No data available for Genatlas for UNC80 Gene

Publications for UNC80 Gene

  1. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. (PMID: 26708751) Stray-Pedersen A. … Yoon G. (Am. J. Hum. Genet. 2016) 3 4 64
  2. Mutations in UNC80, encoding part of the UNC79-UNC80-NALCN channel complex, cause autosomal-recessive severe infantile encephalopathy. (PMID: 26708753) Shamseldin H.E. … Alkuraya F.S. (Am. J. Hum. Genet. 2016) 3 4 64
  3. 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. (PMID: 26545877) Perez Y. … Birk O.S. (J. Med. Genet. 2015) 3 4 64
  4. Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80. (PMID: 19092807) Lu B. … Ren D. (Nature 2009) 2 3 64
  5. UNC80 functions as a scaffold for Src kinases in NALCN channel function. (PMID: 19535918) Wang H. … Ren D. (Channels (Austin) 2009) 2 3 64

Products for UNC80 Gene

Sources for UNC80 Gene

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